Updated as of September 19, 2019

With one in 10 Americans over 65 currently living with symptomatic Alzheimers disease, you probably know someone affected by this disease. Worldwide, 50 million people live with symptomatic Alzheimers, making it the most common form of dementia. It commonly affects people over 65, but less than 4 percent of the estimated 5.7 million Americans affected have early-onset Alzheimers with symptoms beginning before age 65.

By 2050, nearly 14 million Americans are projected to suffer from this disease. Alzheimers is 6th leading cause of death in the US, making Alzheimers disease a top health concern. Unfortunately, there is no cure, but current medications and management strategies may improve symptoms, prolonging patient independence. In honor of November being Alzheimers Awareness month, we evaluated the current therapies, drugs in the pipeline and disease outlook.

Overview

Alzheimers disease is a degenerative brain disease that typically begins in late middle age or old age. Degeneration of brain cells, called neurons, cause the symptoms of progressive memory loss, impaired thinking, disorientation and mood and personality changes.

Risk factors: The greatest risk factors are old age, having a family history of Alzheimers and carrying a mutation in a certain gene called apolipoprotein E 4 (APOE4). Environmental and lifestyle factors, such as diet and exercise, also contribute to disease development.

The risk of Alzheimers doubles every five years after the age of 65, with nearly 1 in 3 people age 85 or older developing the disease. People with the APOE4 gene variant are thought to have an increased risk for developing late-onset Alzheimers, but thats not a steadfast rule: inheriting the gene variant does not mean the person will definitely get Alzheimers and some Alzheimers patients do not have the APOE4 gene variant.

Causes: Alzheimers develops as a result of a complex interaction between many risk factors, all resulting in neuron damage and death. The buildup of misfolded proteins, such as the tau protein and -amyloid, create the hallmark protein clumps called tangles and plaques seen in Alzheimers brains. While these protein clumps are thought to cause neuron death by blocking nerve cell communication and function, the exact relationship between the protein clump formation and neuron death is still unclear.

The four stages of Alzheimers: Based on the severity of dementia symptoms, Alzheimers can be characterized into four stages: preclinical, mild (early-stage), moderate (middle-stage) and severe (late-stage). The preclinical stage encompasses all the unseen changes in the brain, such as plaque accumulations, happening years before symptoms arise. Mild Alzheimers patients can still function independently, although they begin forgetting familiar words or locations of objects. As the dementia progresses to become moderate, the patient becomes more forgetful, has greater difficulty doing daily tasks and experiences personality and behavioral changes. At this stage, they may still remember significant life events. The moderate disease stage is the longest, often lasting for many years. Finally, severe Alzheimers patients can no longer respond to their environment, carry a conversation and control their movement or bowels. As the disease progresses, patients require an increasing level of care for daily activities.

Life expectancy: The earlier the diagnosis, the longer the life expectancy is: people diagnosed in their 60s to early 70s can live as long as 7 to 10 years, whereas those diagnosed in their 90s only average a 3-year life expectancy. Alzheimers patients live an average of four to eight years after their diagnosis, but can live as long as 20 years post-diagnosis. However, its difficult to link one disease to life expectancy, especially as you age, due to the many variables that influence life expectancy.

Cost: The cost burden of Alzheimers is as high as its prevalence: Alzheimers medications can range from $177 to $400 monthly, adding up to an annual prescription drugs estimated cost of $3,000. It will cost Americans an estimated $277 billion, including $186 billion in Medicare and Medicaid payments, to care for Alzheimers patients by the end of 2018. By 2050, this cost is projected to be more than $1.1 trillion, accounting for over four-fold increases in government spending through Medicare and Medicaid, as well as out-of-pocket expenses. Up to $7.9 trillion in medical and care costs could be saved by diagnosing earlier and more accurately.

Diagnosis Strategies

Although there is no specific test for Alzheimers disease, doctors use a variety of exams, imaging and lab testing to diagnose the disease.

Physical and neurological exams can test reflexes, coordination and memory. Brain imaging is used to rule out other physical abnormalities, such as tumors, stroke or other traumas, that can cause Alzheimers-like symptoms. Imaging can now be used to detect the specific changes that occur in the brains of living Alzheimers patients, not just in post-mortem analysis. Structural imaging techniques, such as magnetic resonance imaging (MRI) and computed tomography (CT), are used to rule out other physical injuries as well as assess Alzheimers-related brain shrinkage. Functional imaging, such as functional MRI (fMRI) and positron emission tomography (PET), can measure brain cell function by tracking the cells sugar and oxygen use.

Specific radioactive molecules, called radiotracers, can be used to detect -amyloid plaques via PET imaging. Three radiotracers have been approved by the U.S. Food and Drug Administration (FDA) since 2012: Amyvid (18F-florbetapir), Vizamyl (18F-flutametamol) and Neuraceq (18F-florbetaben).

Genetic testing can reveal if someone has a mutation, such as the APOE4 gene variant, that may increase their risk for developing Alzheimers. However, it is generally not recommended for Alzheimers diagnosis due to the lower accuracy, as many factors contribute to disease development. The exception is early-onset Alzheimers: Anyone with a family history of early Alzheimers can be screened for certain gene mutations, such as amyloid precursor protein (APP), presenilin-1 (PS-1) and presenilin-2 (PS-2).

Developing better diagnostic testing could facilitate earlier diagnoses, possibly leading to better outcomes. Future testing includes more sensitive mental ability exams and measuring key disease-associated proteins, called biomarkers, in the blood or spinal fluid.

Current Therapies

While there is no cure for Alzheimers disease, a handful of drugs have been approved by the FDA and shown to somewhat slow symptom progression. They can be broken down into two categories: cholinesterase inhibitors, which increase the amount of the neurotransmitter acetylcholine in the brain, resulting in more cell-to-cell communication; and NMDA receptor antagonists, which also alter how brain cells communicate.

Cholinesterase inhibitors include Eisais Aricept (donepezil) and Novartis Exelon (rivastigmine), both approved for all stages of Alzheimers, as well as Janssen Pharmaceuticals Razdyne (galantamine), which is approved for mild to moderate Alzheimers. Allerganhas two NMDA receptor antagonist-based drugs, Namenda (memantine) and the combination drug Namzaric (donepezil and memantine), which are both approved for moderate to severe Alzheimers. Antidepressants and anti-anxiety medications are sometimes prescribed as well to help control behavioral symptoms.

Unfortunately, these drugs can cause potentially severe side effects and arent overwhelmingly effective compared to placebo, although they have helped stave off mental decline for a while in some patients. However, the need for more effective drugs is clear.

Drug Pipeline

A variety of targeted therapies are currently being explored through clinical trials, including drugs against the tau protein, which forms distinctive tangles in Alzheimers brains; the -amyloid protein, which forms plaques in the Alzheimers brain; -secretase (BACE), an enzyme that cuts amyloid precursor protein (APP) into -amyloid; and the 5-HT2A serotonin receptor, which is involved in cognition and memory by mediating neurotransmitters, such as acetylcholine and glutamate.

The Alzheimers drug development market includes many large players, including Eli Lillywith six drugs (two in Phase 1, two in Phase 2 and two in Phase 3);Biogen with five drugs (two in Phase 1, one in Phase 2 and two in Phase 3); Roche, in collaboration with Genentech, AC Immune, and MorphoSys, with three drugs (two in Phase 2 and one in Phase 3); Eisai, in collaboration with Biogen, with one drug in Phase 3; and Eisai alone with one drug in Phase 2 (as of September 13, 2019).

As of September 13, 2019, there are over 670 active/recruiting/not yet recruiting clinical trials for Alzheimers listed on clinicaltrials.gov. According to a paper published in July 2019, there were 132 drugs in development for Alzheimers: 28 drugs in 42 Phase 3 trials, 74 drugs in 83 Phase 2 trials, and 30 drugs in 31 Phase 1 trials. The figure and legend below, taken from the July 2019 paper, shows all the drugs in clinical trials for Alzheimers as of February 2019.

UsAgainstAlzheimers released their 2019 Alzheimers Drug Pipeline report also in July 2019, where they focused on 98 late-stage Alzheimers drugs in development that could potentially reach the market in the next 5-10 years: 26 drugs in Phase 3 trials, and 72 drugs in Phase 2 trials. Their report shows that, despite some large Phase 3 failures this year, the Alzheimers pipeline is still robust.

The following analysis of some Alzheimers drugs in the pipeline will briefly discuss how each drug works and where it is in clinical trials. This information was up to date as of September 13, 2019. Any text in italics represents failed or terminated trials.

Note: This article is not meant to be completely comprehensive and may unintentionally exclude some drugs in development or clinical trials, especially those trials outside of the United States.

Phase 1

Biogen is exploring multiple antibody drugs against the -amyloid and tau proteins, including a Phase 1 trial studying the anti-tau antibody BIIB076 in 48 healthy and Alzheimers patients; a Phase 2 trial (TANGO) examining the anti-tau antibody BIIB092 (gosuranemab) in 528 early-stage Alzheimers patients; a Phase 2 trial in collaboration with Eisai studying the anti--amyloid antibody BAN2401 in 800 early-stage Alzheimers patients; and a Phase 3 trial (Clarity AD) studying BAN2401 in 1566 early Alzheimers patients.

Unfortunately, in March 2019, Biogen and its partner Eisai decided to end all studies involving another one of its anti--amyloid antibodies called aducanumab (previously called BIIB037), including their two Phase 3 trials (ENGAGE and EMERGE) each studying 1605 early-stage Alzheimers patients, a Phase 2 trial (EVOLVE) in 500 Alzheimers patients with mild cognitive impairment (MCI) or mild dementia due to Alzheimers, and a Phase 1 trial (PRIME) in 197 very mild (prodromal) or mild Alzheimers patients. The studies were stopped because they did not meet their clinical endpoints of slowing cognitive and functional impairment, not due to any safety concerns of the drug.

Eli Lilly is pursuing two chemical entities, a Tau Morphomer and an O-GlcNAcase Inhibitor, in Phase 1 clinical trials for Alzheimers.

Proclara Biosciencescombined a part of the human immunoglobulin protein with their unique protein technology, called General Amyloid Interaction Motif (GAIM), to create their fusion protein drug NPT088, which targets both -amyloid and tau proteins. Their Phase 1a safety trial showed that intravenous NPT088 is safe and well-tolerated in 40 healthy patients. Data from their Phase 1b dosing trial in Alzheimers patients is expected in 2019.

Cognition Therapeutics drug candidate CT1812 is a small molecule pill that disrupts -amyloid binding to a receptor called sigma-2 on brain cells, which is thought to prevent the proteins toxicity. CT1812 has been or is being studied in six clinical trials, including one recruiting Phase 1 trial with 18 mild to moderate Alzheimers patients, one recruiting Phase 1/2 trial with 21 mild to moderate Alzheimers patients, and one recruiting Phase 2 trial with 120 mild to moderate Alzheimers patients. CT1812 was well-tolerated and penetrated the brain very well in 80 healthy patients and 19 mild to moderate Alzheimers patients with mild to moderate side effects. Although the treated Alzheimers patients had lower levels of Alzheimers-related proteins (such as neurogranin and synaptotagmin-1, markers of synaptic damage) in their cerebrospinal fluid, they didnt show significantly different cognitive functioning compared with the placebo group after 28 days of treatment.

Samus Therapeuticsis developing a positron-emitting molecule, called 124I-PU-AD, that inhibits a certain protein complex called epichaperone complex, which reduced tau proteins in the brain, restored long-term memory and increased survival in preclinical animal models. 124I-PU-AD is also being used as a PET imaging agent to study the epichaperone complex in the brains of Alzheimers patients. They have completed an early Phase 1 trial in 5 Alzheimers and certain cancer patients to evaluate the molecules metabolism. Another Phase 1 study is currently recruiting 24 healthy volunteers to evaluate the safety and tolerance of the drug.

Janssen Research & Development is examining the ability of a radioactive PET imaging agent, called [18F]MNI-1020, to bind to the tau protein in Alzheimers patients. An early Phase 1 trial studied the safety and brain uptake efficacy of a single injection of the imaging agent in 15 Alzheimers and healthy age-matched patients. That study also compared the location of tau (using [18F]MNI-1020) and -amyloid (using Amyvid (florbetapir)) in patients with suspected Alzheimers.

Longeveron collects stem cells from healthy adult donors to create their own Longeveron mesenchymal stem cells (LMSCs), which have been shown to reduce inflammation and promote cell regeneration. Their Phase 1 clinical trial is currently recruiting 30 Alzheimers patients to evaluate the safety and efficacy of LMSCs.

Athira Pharmas small molecule drug NDX-1017 designed to restore lost or build new connections in the brain. Their Phase 1 trial is currently recruiting to evaluate the drugs safety in two parts, with Part A involving up to 56 healthy young and elderly participants and Part B involving 44 healthy, mild cognitive impairment or mild to moderate Alzheimers patients.

Cortexyme, Inc.is developing COR388, a first-in-class bacterial protease inhibitor that targets the bacteria Porphyromonas gingivalis, which is present in Alzheimers patients brains and cerebrospinal fluid and thought to contribute to the disease. Two completed Phase 1 trials have shown that COR388 is safe and well-tolerated in 58 healthy and nine Alzheimers patients. A Phase 2/3 trial is currently enrolling 573 mild to moderate Alzheimers patients to assess the drugs efficacy, safety, and tolerability.

Allergan was pursuing a small molecule drug called AGN-242071 that selectively targeted certain receptors in the brain, called muscarinic receptors, which may treat symptomatic cognitive deficits and behavioral symptoms in Alzheimers.

Unfortunately, Allergan decided to withdraw their Phase 1 trial evaluating the safety and tolerability of the drug prior to patient recruitment in November 2018.

Corium Internationalhas developed a novel delivery method for an approved drug, a once-weekly skin patch (the Corplex Donepezil Transdermal System) that delivers a sustained dose of donepezil. The patchs safety and drug profile were examined in multiple Phase 1 trials, which showed great skin tolerability and comparable dosages between the weekly patch and the currently prescribed daily donepezil pills. Corium is also developing a once-weekly skin patch to deliver memantine

Cognoptix has taken a different approach, developing an eye test called Sapphire II to catch and diagnose Alzheimers much earlier by detecting -amyloid deposits in their eyes. A fluorescent drug that binds to the -amyloid protein (Aftobetin-HCl) is administered to the eye as an ointment and binding is detected with the Sapphire II laser device. Their Phase 1 study determined the optimal dosing of the fluorescent drug in 15 participants and is currently recruiting 10 normal and 20 mild cognitive impairment (MCI) or mild Alzheimers patients for dose testing. If the dosing is optimal, then 30 more MCI and 30 more mild Alzheimers patients will be recruited, totaling 105 participants.

Phase 1/2

Ionis Pharmaceuticalsis collaborating with Biogen to study their antisense oligonucleotide drug IONIS-MAPTRx (also called BIIB080), which may reduce tau protein production and its accumulation in brain cells, in a Phase 1/2 trial in 44 mild Alzheimers patients.

QR Pharma, Inc.s small molecule drug Posiphen inhibits APP, tau and -synuclein (involved with Parkinsons disease) protein synthesis. They are currently recruiting 24 Alzheimers patients for their Phase 1/2 dosage study (DISCOVER).

Following their successful Phase 1 trial (SEAD) in 15 Alzheimers patients, Ausio Pharmaceuticalsbrought their estrogen receptor activating drug S-equol (also called AUS-131) to a Phase 1/2 trial (SEAD2), which is currently recruiting 40 Alzheimers patients to test the drugs tolerability and whether or not it affects cognitive abilities. Activating the estrogen receptors on mitochondria is thought to promote mitochondrial functioning, which could restore the reduced mitochondrial activity seen in Alzheimers patients. Less mitochondrial activity is thought to contribute to -amyloid protein build-up in the brain.

Nature Cell Co. is studying a fat cell-derived mesenchymal stem cell (MSC) therapy called AstroStem in an active Phase 1/2 study involving 21 mild to moderate Alzheimers patients.

Phase 2

Eli Lilly has two ongoing Phase 2 trials studying antibody drugs: one active trial (TRAILBLAZER-ALZ) evaluating the tolerability and efficacy of a humanized anti--amyloid antibody, called donanemab (LY3002813 or N3pG-A MAb), in 266 early symptomatic Alzheimers patients; and another currently recruiting trial evaluating the safety and efficacy of a humanized anti-tau antibody, called zagotenemab (LY3303560), in 285 early symptomatic Alzheimers patients.

Roche, in partnership with AC Immune, is studying crenezumab (RG7412), an anti--amyloid antibody drug that binds to -amyloid similar to Eli Lillys solanezumab. Crenezumab is being investigated in an active Phase 2 trial involving 252 non-symptomatic adults with a family history of Alzheimers who have a particular genetic mutation (autosomal-dominant PSEN1 E280A). Baseline data for 242 of the enrolled patients were presented at the Alzheimers Association International Conference in August 2019. Another not yet recruiting Phase 2 trial is in the works to study the effect of crenezumab on the longitudinal tau burden via PET imaging of 150 patients enrolled in the active Phase 2 trial (NCT01998841).

Crenezumab was being investigated in three Phase 3 trials: CREAD 1 evaluating the drugs safety and efficacy in 813 mild Alzheimers patients; CREAD 2 studying the drugs safety and efficacy in 750 mild Alzheimers patients; and an open-label extension trial (CREAD OLE) examining long-term drug treatment in 149 Alzheimers patients. Unfortunately, in January 2019, Roche discontinued all CREAD trials due to the interim analysis showing crenezumab was unlikely to meet the primary endpoint of improving cognition.

Genentech (a subsidiary of Roche) is partnering with AC Immune to develop the anti-tau antibody drug RO7105705 (also called RG6100 and MTAU9937A), which recognizes tau tangles and is meant to block their spread between cells. An active Phase 2 trial involving 457 prodromal to mild Alzheimers patients is studying the drugs safety and effect on cognitive function.

AbbVies humanized antibody drug ABBV-8E12, which targets the tau protein, is being evaluated for its safety and efficacy in an active Phase 2 trial involving 400 early-stage Alzheimers patients. An extension study to study the drugs long-term safety and tolerability is currently enrolling patients from the Phase 2 study (NCT02880956) by invitation.

Avid Radiopharmaceuticals, a wholly-owned subsidiary of Eli Lilly, is developing the PET imaging agent 18F-AV-1451 (also called Flortaucipir F 18 or F 18 T807), a molecule that binds to the tau protein, allowing researchers to study tau in living patients. There are multiple Phase 2 or Phase 2/3 trials studying the imaging agents safety and efficacy, with five Phase 2 trials currently recruiting or not yet recruiting: one to evaluate the agents safety and tau binding via PET imaging in 250 healthy, Alzheimers, traumatic brain injury and depression patients; one (ADRC proj 1) to compare tau tangles in the brain with cerebrospinal fluid CSF biomarkers and cognitive status in 80 Alzheimers patients; one (DIAN Project, AV ADAD) to study the presence of tau tangles in the brain and cognitive status in 130 adults; one to study the uptake and binding in 80 older HIV-positive adults with and without HIV-associated neurocognitive disorders and HIV-negative age-matched controls; and one (Protocol Z) to study tau and amyloid lesions in the brains of 80 APOE4+ adults with normal cognition or early-stage symptomatic Alzheimers.

Neurotrope Bioscience is developing bryostatin-1, a small molecule that activates protein kinase C (PKC), a protein that is important for learning and memory. This drug stimulates synapse repair and growth, activates -amyloid degrading enzymes and prevents tau tangle formation and neuron death. A Phase 2 trial evaluating the safety and efficacy of bryostatin-1 in 147 moderate to severe Alzheimers patients showed positive results: the lower (20 g) dose improved cognition and the ability to care for oneself. This prompted a second Phase 2 trial to study the drugs safety and efficacy at the lower dose in 108 moderately severe to severe Alzheimers patients.

Unfortunately, Neurotrope announced that the second Phase 2 trial did not show statistically significant improvement in memory, indicating it did not meet its primary endpoint of a change in the Severe Impairment Battery (SIB) test total score from baseline to week 13.

EIP Pharma is pursuing a small molecule called neflamapimod (VX-745) that inhibits an enzyme, called p38 MAPK, found in the neurons that is involved in inflammation and possibly -amyloid toxicity. Neflamapimod previously showed clinical activity in rheumatoid arthritis patients before being licensed to EIP Pharma. They are currently conducting a Phase 2b efficacy study (REVERSE-SD) in 161 participants with mild Alzheimers. A Phase 3 study is scheduled to start in the third quarter of 2020. Another Phase 2 trial is recruiting 40 Alzheimers patients to study neflamapimod on brain inflammation.

Actinogen Medicalis studying a drug called xanamem, which inhibits a cortisol-producing enzyme in the brain, ultimately blocking local production of cortisol, known as the stress hormone. While blood cortisol levels tend to rise with age, its particularly raised in patient with certain diseases, such as Alzheimers. Long-term high cortisol levels can be toxic to brain neurons, so preventing cortisol production in the brain may help slow cognitive decline and -amyloid plaque formation. After assessing xanamems safety and dosing in two Phase 1 trials, a Phase 2 trial (XanADu) assessed the drugs safety and efficacy in 186 early-stage Alzheimers patients.

Boehringer Ingelheims drug BI 425809 is a glycine transport inhibitor designed to regulate signaling in the brain that contributes to cognitive impairment. An active Phase 2 trial is studying the safety and effect on cognition of multiple dosages of the drug in 611 Alzheimers patients.

Neurocentriais developing a dietary supplement called MMFS, which contains a molecule called L-threonic acid magnesium salt (L-TAMS) that increases synapse density in portions of the brain needed for memory and executive functioning, such as the prefrontal cortex and hippocampus. Two previous studies showed improved cognition in mild to moderate Alzheimers patients, prompting the active Phase 2 trial that is recruiting 12 mild Alzheimers patients to examine the drugs safety and effect on cognition.

Alkahestis studying intravenously administered plasma-derived product called GRF6019, which is isolated from human plasma (a component of the blood) that has been shown to enhance neurogenesis and improve learning and memory in animals. Matching donor and patients blood types is not needed because the donor-specific antibodies (called immunoglobulins) are removed. A Phase 2 trial in 40 mild to moderate Alzheimers patients studied the safety and feasibility of GRF6019. Another Phase 2 trial is currently recruiting 20 severe Alzheimers patients to study the safety, tolerability, and cognitive benefits of the drug.

Suven Life Sciences drug SUVN-502 specifically inhibits a certain serotonin receptor (called 5-HT6), which is thought to improve cognition and memory. SUVN-502 in combination with donepezil and memantine was shown to increase the concentration of neurotransmitters, like acetylcholine. An active Phase 2 trial is testing the effect of this triple combination therapy on cognition in 563 moderate Alzheimers patients. An expanded access program is also available for eligible patients to receive the drug without being evaluated for safety and efficacy.

Neurim Pharmaceuticalsis taking a different approach by developing a drug, called piromelatine, that binds to and activates melatonin and serotonin receptors in the brain, promoting sleep and therefore neuroprotective effects. This drug was safe and promoted deeper and more REM sleep in a Phase 2 clinical trial in adults with insomnia. Given the link between sleep and Alzheimers, Neurim decided to study piromelatines effects on cognition in 500 mild Alzheimers patients in an active dose-ranging Phase 2 trial.

Eisai, in collaboration withPurdue Pharma, is studying their orexin receptor antagonist drug lemborexant in a Phase 2 trial involving 62 mild to moderate Alzheimers patients. The orexin receptor is involved in the regulation of sleep. Lemborexant binds to the orexin receptor, preventing orexin from binding, which should decrease wakefulness and promote falling and staying asleep naturally. Sleep, especially at appropriate hours, is troublesome for Alzheimers patients whose circadian rhythms tend to be dysregulated.

Phase 2/3

Novartis has partnered with Amgen and the Banner Alzheimer's Instituteto pursue Novartis drug umibacestat (CNP520), which inhibits BACE1, an enzyme involved in -amyloid production. After a successful Phase 2 trial safety study in 124 healthy elderly patients, there were two Phase 2/3 trials: one (Generation S1) to test the efficacy of CNP520 against an investigational immunotherapy drug (CAD106, a vaccine against a fragment of the -amyloid protein) in 481 non-symptomatic older patients with two copies of the APOE4 gene; and one (Generation S2) to test the drugs effect on cognition and underlying Alzheimers pathology in 1145 non-symptomatic older patients with at least one APOE4 allele and elevated brain -amyloid levels.

Unfortunately, both Phase 2/3 trials were discontinued in July 2019 due to worsening cognitive function seen during interim data analysis. As umibacestat was meant to delay the onset of symptoms, participants in the study will discontinue the investigational treatment and discuss further treatment options with their doctors.

TauRx Therapeutics drug TRx0237 (also called LMTX) is their second-generation tau protein aggregation inhibitor, which aims to both dissolve existing tau tangles and prevent new tangles from forming. Two previous Phase 3 clinical trials studied the safety and efficacy of high doses (150-250 mg/day) and a low dose control (8 mg/day) of the drug in 800 mild and 891 mild to moderate Alzheimers patients. Surprisingly, they found that the low dose was as beneficial as the higher doses, prompting a current Phase 2/3 trial (LUCIDITY) recruiting 375 early Alzheimers patients studying TRx0237 at low doses (8 and 16 mg/day). An expanded access program is also available to provide the drug to patients who have previously participated in a TauRx clinical trial but do not qualify for an ongoing trial.

Axsome Therapeutics is pursuing a treatment for agitation associated with Alzheimers and have been granted fast track status for their drug AXS-05, which combines dextromethorphan and bupropion. Dextromethorphan (called DM and commonly known as an over-the-counter cough suppressant) inhibits serotonin and norepinephrine transporters and the NMDA receptor at high doses. Bupropion increases the bioavailability of dextromethorphan and inhibits norepinephrine and dopamine reuptake. A Phase 2/3 trial (ADVANCE) is currently recruiting 435 Alzheimers patients to study the safety of AXS-05 and its effect on agitation.

Phase 3

Eli Lilly has a Phase 3 anti--amyloid antibody drug called solanezumab (LY2062430), which binds to soluble -amyloid monomers. The primary endpoints of trials involving this drug is to slow memory and cognitive decline. The drug is associated with 11 listed trials, including an active Phase 3 trial (A4) involving 1150 not yet symptomatic adults with evidence of amyloid plaque build-up in their brains, and a currently recruiting Phase 2/3 large collaboration trial (DIAN-TU) comparing solanezumab and gantenerumab in 490 non-symptomatic adults known to have an Alzheimers disease-causing mutation. This collaboration includes Eli Lilly, Roche, Avid Radiopharmaceuticals, Janssen, Alzheimers Association, National Institute on Aging (NIA), Accelerating Medicines Partnership (AMP), and Washington University School of Medicine.

Two Phase 3 trials (EXPEDITION and EXPEDITION 2) were completed previously and involved 1040 Alzheimers patients each. Although there was no difference in cognition between the treated and placebo groups, patients with mild Alzheimers did show slower cognitive decline compared to placebo, prompting further studies.

Unfortunately, the next three Phase 3 trials (EXPEDITION 3, EXPEDITION EXT and EXPEDITION PRO) were terminated due to lack of meeting primary endpoints, including slowing cognitive decline, and insufficient evidence that solanezumab would likely demonstrate a meaningful benefit to patients with prodromal Alzheimers.

Roche is currently investigating gantenerumab, an anti--amyloid antibody drug that binds and neutralizes -amyloid plaques. Gantenerumab, brought back after failing in previous clinical trials, is involved in four Phase 3 trials: two active trials studying the drugs effect on cognitive function in 799 prodromal and 389 mild Alzheimers patients; and two currently recruiting trials studying the drugs effect on cognition in 760 early Alzheimers patients each.

Eisai, in collaboration with Biogen, is studying their small molecule BACE1 inhibitor elenbecestat (also called E2609) in two Phase 3 trials (MISSION AD1 and MISSION AD2) currently recruiting 950 early-stage Alzheimers patients each. Inhibiting BACE1 is thought to interfere with -amyloid production.

Unfortunately, the companies announced that they were discontinuing their MISSION AD1 and AD2 Phase 3 trials on September 13, 2019. The decision was made based on results from a safety review that showed an unfavorable risk-benefit ratio of elenbecestat.

Avid Radiopharmaceuticals and Eli Lilly reported positive results earlier this year from their Phase 3 trial on the tau-binding PET imaging agent flortaucipir F 18 (18F-AV-1451 or Tau imaging agent) in Alzheimers patients. The trial met its two primary endpoints, successfully predicting both the disease-related role of tau in the brain and an Alzheimers diagnosis. PET imaging was performed on 156 end-of-life patients with cognition ranging from normal to dementia, with 67 of these patients being evaluated post-mortem. Flortaucipir could significantly detect Alzheimers-related changes in the brain, including both tau and -amyloid plaque densities. Being able to accurately image and diagnose Alzheimers patients is a critical component in understanding the disease and being able to manage it. There are currently 33 studies listed on clinicaltrials.gov for flortaucipir and Alzheimers.

AZTherapies, Inc. is studying the combination drug ALZT-OP1, which consists of the inhaled drug cromolyn and oral drug ibuprofen, both of which are anti-inflammatory. Inflammation in the brain is thought to trigger neuronal death, which causes progressive brain damage. Cromolyn was also shown to prevent -amyloid aggregation in one study. A Phase 3 trial (COGNITE) is currently studying the effect of this combination drug on cognitive decline in 620 early-stage Alzheimers patients.

ACADIA Pharmaceuticals drug pimavanserin (previously called ACP 103) is a selective serotonin inverse agonist (SSIA), meaning it both binds to serotonin receptor subtype 5-HT2A and blocks serotonin signaling. Following a few Phase 2 trials specifically in Alzheimers patients, there are currently three recruiting Phase 3 trials for a broader range of dementia patients: an efficacy study examining pimavanserins ability to prevent relapse of dementia-related psychosis symptoms in 356 dementia patients, a safety study in 300 patients with neurodegenerative disease, and an open-label extension study examining the drugs long-term safety in 300 patients with neurodegenerative disease who previously participated in another pimavanserin clinical trial by ACADIA.

Intra-Cellular Therapiesis developing lumateperone (ITI-007), a molecule that simultaneously affects serotonin, dopamine and glutamate signaling, which play important roles in multiple mental illnesses. Following a Phase 1b/2 study, they recruited 177 dementia patients, including Alzheimers patients, for a Phase 3 trial studying the safety and efficacy of the drug for reducing agitation.

However, the Phase 3 trial was terminated early due to interim data analysis indicating lumateperones lack of efficacy.

AVANIR Pharmaceuticals drug AVP-786 combines two approved drugs: deuterated dextromethorphan (d6-DM), which has better bioavailability and less side effects than regular DM, and an ultra-low dose of quinidine, which slows the metabolism of d6-DM by inhibiting an enzyme (CYP 2D6) that breaks down d6-DM. AVP-786 is a second-generation version of Nuedexta (formerly AVP-923), which is currently approved to treat pseudobulbar affect (PBA). Currently, there are four recruiting or active Phase 3 trials studying the safety and efficacy of AVP-786 in treating agitation in Alzheimers patients: one recruiting 412 Alzheimers patients with moderate to severe agitation worldwide, one active study involving 522 Alzheimers patients in the US, one completed study involving 410 Alzheimers patients in the US and a long-term extension study recruiting 700 patients who have completed previous clinical trials of AVP-786 by Avanir.

Otsuka Pharmaceutical Co.and Lundbeck are collaborating to develop brexpiprazole (brand name Rexulti) for treating agitation and behavioral symptoms in Alzheimers patients. Rexulti, which binds to and activates a particular dopamine receptor (D2), is currently FDA approved to treat schizophrenia and as an add-on treatment for major depression disorder. Two Phase 3 trials examining brexpiprazole at either fixed or flexible doses in a total of 703 Alzheimers patients showed reduced agitation compared to the placebo. They are currently recruiting for three Phase 3 trials: one evaluating the safety, efficacy, and tolerability in 225 Alzheimers patients with dementia-associated agitation in the US; one studying long-term treatment in 157 Alzheimers patients with dementia-associated agitation in Japan; and a 12-week extension study for 250 Alzheimers patients with dementia-associated agitation who were previously enrolled in other Otsuka trials studying brexpiprazole. They are also recruiting for a Phase 2/3 study in 407 Alzheimers patients with dementia-associated agitation in Japan.

Merck Sharp & Dohme Corp., a subsidiary of Merck, is studying their FDA approved drug suvorexant (previously called MK-4305, brand name Belsomra) to treat insomnia in Alzheimers patients. Currently approved for insomnia patients, the small molecule drug works by inhibiting the orexin receptor in the signaling system involved in wakefulness. Their Phase 3 trial studying suvorexants safety and efficacy at improving sleep in 285 Alzheimers patients and patients with insomnia concluded in October 2018, but results have not been posted yet.

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Alzheimer's Disease Insight Report: Current Therapies, Drug Pipeline and Outlook - BioSpace

Recommendation and review posted by Bethany Smith

Anti-Ageing Drugs Market Report is a complete assessment of current status, trends and respective shares of some of the most prominent players in this landscape. The study contains thoughtful insights, facts, Anti-Ageing Drugs historical data, and statistically supported and industry-validated market data. This Anti-Ageing Drugs report also explores Business models, Key strategies and Growth opportunities in upcoming years.

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Nu Skin, BIOTIME, Elysium Health, La Roche-Posay, DermaFix

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North America, China, Rest of Asia-Pacific, UK, Europe, Central & South America, Middle East & Africa

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Anti-Ageing Drugs Market 2019 In-depth Analysis by Leading Players: Nu Skin, BIOTIME, Elysium Health - Daily Research Chronicle

Recommendation and review posted by Bethany Smith

Once weve conquered our diets, instituted a regimen of exercise and saunas and cold plunges, doused ourselves in NMN and resveratrol and Metformin and benign viruses, quit smoking and cut down our drinking and remembered to wear our seatbelts, theres one main obstacle remaining in the way of an extra-long and healthy life: our guilt.

Whether its hard-wired or a result of societal expectations, we tend to feel that old farts should not outstay their welcome. Leave some room for future generations, we grumble under our breath, out of earshot of elderly relatives. Youre already taking up too much of the housing stock, making it near-impossible for millennials to buy homes. You want to bankrupt Social Security and Medicare too?

Just last month, Ezekiel Emanuel, the chair of the University of Pennsylvanias department of medical ethics (and a chief architect of Obamacare) confirmed that he stood by his controversial 2014 essay: Why I hope to die at 75. Despite the onslaught of anti-aging research, Emmannuel (now 62) said his main arguments still held water: That people in their 80s who were still vigorous were not doing meaningful work; that authors above 75 were not producing brand-new books but simply re-ploughing old furrows.

Let's leave aside the fact that's a pretty weird metric to judge the worth of a life -- sorry, grandma, time to go, you're not doing meaningful work or writing new books! Emanuel's argument ignores what biologists like Sinclair are telling us. The more we age in good health, the more useful we will be.

Sinclair, as you might expect, could not disagree with Emanuel more. First of all, he says, lets assume everyone stopped dying of age-related causes tomorrow and they wont, even under the most extreme anti-aging regimen. But if they do, thats only 100,000 extra people per day sticking around. (Around 150,000 people die every day, roughly two-thirds of them from age-related causes.)

Compare that to the worlds current growth rate. More than 350,000 babies arrive every 24 hours. Earth's population is growing because of the size of the average family in the developing world, not because more people are living longer. The main way to bring it down is to educate more women and move more families into cities where, by the way, we shouldnt blame Baby Boomers for the lack of housing. We simply need to build more.

Total human population should level off at around 11 billion around the time your century dawns, whether or not the aged continue to die. And as for the threat of climate change well, perhaps the older generation will start to pay more attention when theyre actually going to live with the effects themselves. Or when they have to look their great-great-grandchildren in the eyes and explain their inaction.

Secondly, a healthy longevity boom would actually take an enormous burden off the healthcare system. Reducing just one of the major killers like heart disease, even by 10 percent, could savetrillions of dollars, money that can then be reinvested in medical research or just returned to patients in the form of lower costs. And thats the whole point of treating aging as the ultimate disease, the one that effectively produces all the others. (For example, Sinclair writes, smoking makes lung cancer five times more likely, but just living from 20 to 70 increases your chances of getting the disease a thousandfold, even if youve never sucked on a cancer stick.)

Aging is by far the biggest risk factor in any disease, by an order of magnitude, Sinclair says; having volunteered in nursing homes with his wife, he knows whereof he speaks. Dont delude yourself: Getting old and getting sick is not fun, for you or for your family. So I believe we have an obligation to preserve our health for as long as possible.

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The end of aging: Are you ready to live to 150? - Mashable

Recommendation and review posted by Bethany Smith

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Rocket Pharmaceuticals (RCKT) is a best in class gene therapy company with five shots on goal and strong data to support its current valuation. The two largest assets, RP-L102, a lentiviral gene therapy for Fanconi Anemia and RP-A501, an AAV gene therapy for Danon Disease are each worth multiples of the current share price, if successfully commercialized. The management team is highly experienced and have successfully commercialized many products at predecessor companies. The board of directors are both experienced and proven money makers on wall street in the world of biotech. The shareholder base is strong with top quality investors and the company has sufficient cash on the balance sheet for at least two years, during which multiple value drivers will report out. Commercialization of the most advanced products could occur in the 2021 timeframe. While never an investment attribute alone, I would note that there have been multiple acquisitions in gene therapy during the last 18 months (AVXS, ONCE) at eye-watering valuations and large cap pharma is struggling to find pipeline assets and return on productivity for internal pipeline assets remains at a multi decade low.

This report provides an overview of the company and details of the most advanced product in development, RP-L102 for Fanconi Anemia, as this is the primary focus for investors currently. The company's largest pipeline asset, RP-A501 for Danon Disease will become a focus for investors during 2020.

RCKT has Five Programs. Four will be in the Clinic in 2019

Source: Company data

Pipeline has > $1bn in Revenue Potential

Source: Company data, my estimates

Plenty of Catalysts Anticipated During Next 12 months

With five assets either in, or almost in the clinic, there are multiple catalysts expected during the next twelve months.

Source: Company data, my estimates

The company finished 2Q 2019 with $257 million of cash on its balance sheet and during the last 12 months the company burnt $66.5 million of cash. This is expected to increase during 2020 and 2021 as multiple pivotal trials start and consensus forecasts suggest that the company will spend $99 million in 2020 and $98.5 million in 2021. Therefore the company has sufficient cash on its balance sheet for approximately 2.5 years during which time, there will be multiple clinical catalysts that will hopefully drive the share price higher, allowing the company to raise additional equity in late 2020 to fund the company to break even in the 2023 timeframe. In the current environment, investors need to avoid any company that requires substantial financing.

Rocket Pharmaceuticals trades with a market capitalization of just $546 million. As of June 30, 2019, the company had cash of $ 258 million and debt of $ 46 million. Compared to other companies in the gene therapy space, RCKT trades at a significant discount. The company is well capitalized with approximately two years of cash on the balance sheet and there are a number of value creating catalysts during the next 12 months. Additionally, whilst never a reason to solely own a biotech company, I would note that there have been a number of acquisitions in the gene therapy space during the past few years. Large-cap pharma and biotech is short on products and long on cash and they need to make acquisitions.

Selected M&A in the Gene Therapy Sector: 2016-2019

Source: Bloomberg, Company data

RCKT is currently covered by 8 Wall Street Sell Side analysts, as shown below. Notably, Large banks including Goldman Sachs, Jefferies, JP Morgan, Morgan Stanley, Citi and Barclays Capital are all missing. As the company evolves into a commercial company during the next several years, it is likely that some of these brokers will initiate coverage of the stock, thereby improving liquidity.

Source: Bloomberg

As with all biotechnology stocks, there are significant risks associated with this investment and under a worst case outcome, there is 100% downside. The most obvious risk is that the pipeline products fail in clinical development. While Rocket has five assets in its pipeline, and success in any one of these is likely enough to justify the current valuation, negative clinical trial data would clearly have a negative impact on the company's share price. Under the outcome that all five pipeline assets fail in development, the stock is likely worth zero.

We are also in an uncertain political environment with an election looming in 2020. It is unlikely that either party will be arguing for higher drug prices and biotech stocks often underperform during these periods. Investors can mitigate this risk by being short a number of lower quality biotech companies and long a number of higher quality biotech companies. In my opinion, investors need to be long biotech stocks that are financed through 2021 and have multiple catalysts during the next 12 months. Being short companies in the opposite camp likely generates a good return as well.

Currently this company is not really exposed to foreign exchange rate or interest rate risks but these factors may become relevant in years to come.

This report will start with a primer on exactly what gene therapy is and then a detailed analysis of Rocket's lead asset where clinical data has been evolving during the last 24 months.

Gene therapy refers to technologies that can insert genes into cells, thereby expressing the proteins encoded by the genes. Gene therapies consist of two key elements - the gene of interest, and a vector that carries the gene into the host's target cells. Over the years a number of vectors have been used, although most efforts now employ viruses to carry the target genes. In creating a gene therapy, most of the viral genome is replaced by the therapeutic gene of interest. This eliminates the ability of the virus to replicate and cause disease, and permits relatively large target genes to be carried. The manipulated genome is inserted into a viral vector and when the virus is given to a patient, it is taken up by the patient's cells where it delivers its DNA to the nucleus. The cell then makes the target protein using the new gene as if it were encoded by the cell's own genetic material. Importantly, this process of gene transfer can be conducted ex vivo or in vivo depending upon the application.

Although gene therapy has the potential to treat a wide range of conditions, orphan monogenic diseases are particularly well suited for this approach. There are a number of scientific, economic, and logistical attributes of severe, monogenic orphan diseases that make them ideal candidates for the development of gene therapies by small biotechnology companies. First, by their nature as monogenic diseases, their causes are defects in a single gene. The pathogenesis of the disease is often well understood, and its treatment can be straightforward: by placing a functional copy of the gene in affected tissues, the disease process can be functionally cured/halted. Second, as orphan disorders affect a relatively small number of patients, on the order of several thousand individuals, the clinical trial programs can be conducted in tens of patients, rather than thousands. Such trials are less expensive to run and the logistics are within the capabilities of even small biotech companies. Third, most monogenic orphan diseases have no currently available disease altering therapies. Therefore the unmet need is high and any safe and effective therapy will likely be embraced. Fourth, the FDA has been flexible in its requirements for licensure in severe orphan diseases, routinely granting accelerated approvals based on surrogate markers that are reasonably likely to predict clinical benefit. Finally, innovative, and effective orphan therapies still have pricing flexibility in most worldwide markets such that companies can achieve attractive risk-adjusted returns on their research and development investment. Therefore, the orphan business model is well established and has repeatedly generated high returns for small cap biotechnology companies.

Rocket is building a comprehensive gene therapy technology platform to address serious, rare diseases. Rocket is developing both ex vivo lentiviral-based gene therapy technologies as well as adeno-associated virus (AAV) technologies to be used in vivo. Rocket also has early preclinical efforts in gene editing such as CRISPR/Cas9 (Clustered Regularly Interspaced Short palindromic Repeat/CRISPR-associated protein-9 nuclease) in its pipeline.

RCKT is Focusing on both In Vivo and Ex Vivo Gene Therapies

Source: Company data

What is a Lentiviral Vector?

Lentiviruses are a genus of retroviruses that includes the human pathogen human immunodeficiency virus (HIV). Like all retroviruses, lentiviruses are RNA viruses that encode reverse transcriptase (RT). Once a virion infects a cell, RT converts the virus' RNA genome into a DNA copy. This DNA copy is then integrated into the host genome using the virally encoded integrase. Once integrated into the host genome, the virally encoded genes are expressed and copied alongside host genes using the normal host gene expression and replication machinery. Lentivirus-based gene therapy approaches seek to co-opt the viral integration process to stably introduce genes of therapeutic interest into the human genome. Unfortunately, every insertion event is associated with a theoretical risk of causing disease (insertional mutagenesis) due to disruption of the host genome at the site of integration. As a result, lentiviral gene therapy programs take several steps to limit the ability of the virus to generate unnecessary insertion events.

Lentiviral (and retroviral more generally) gene therapy is most often deployed in an ex vivo process whereby cells are removed from the body, transfected with a lentivirus encoding the gene of interest, and then reintroduced into the patient. In Rocket's programs, it is transducing hematopoietic stem cells (HSCs) isolated from patients with defined monogenic diseases in order to insert a normal copy of the gene that is defective in these patients. The transduced HSCs are then infused back into the patient so that they will engraft. Although historically the patient's native hematopoietic system is ablated to improve engraftment, Rocket and its academic collaborators have pioneered a lentiviral approach that requires no or minimal chemotherapy.

HSCs are a self-renewing cell type that reconstitutes the patient's hematopoietic system, thus providing permanent, life-long expression of the normal gene from this one-time treatment. Because HSCs differentiate to form a variety of terminal cell types, this general approach is potentially applicable to a variety of genetic diseases in a modular, repeatable fashion. The ex vivo use of HSCs rather than in vivo treatment of all cells dramatically reduces the number of insertion events required to generate a therapeutic effect thereby reducing the risk of insertional mutagenesis. In addition, Rocket's use of the patient's own cells (an autologous transplant) is an important attribute of lentiviral gene therapy, as this should avoid some of the serious immune complications associated with allogeneic transplants such as graft-versus host disease (GVHD), which require management with harsh immunosuppressive therapies and can be fatal.

The lentiviral vector Rocket uses is based on the HIV virus. The vector takes advantage of the virus' natural ability to integrate into the host genome in both dividing and nondividing cells in order to efficiently deliver the chosen genetic payload. However the vector has been modified in a number of ways to render it nonpathogenic. Virtually all the viral genes have been removed to make room for the transgene and eliminate the virus' ability to replicate. The infectious viral particles are generated by co-transfecting producer cells with separate plasmids containing the "gutted" viral backbone and transgene, the viral capsid proteins and viral polymerase to make viral RNA from the DNA plasmid, reverse transcriptase to make DNA from the virus' RNA, and VSV - a pantropic envelope protein that allows infection of a variety of human cell types (not just CD4+ T cells). This results in the production of infectious viral particles carrying the viral RNA, reverse transcriptase protein, and viral integrase protein. When the virus infects target cells, it is thus able to undergo the process of reverse transcription and integration into the genome, but because the natural viral genes are not present, it can only undergo this single cycle of transduction and cannot replicate or infect other cells. To make doubly sure of this, the terminal ends of the viral genome are also modified to be "self-inactivating," so that they would no longer be recognized for excision even if the necessary viral proteins were to become present in the cell. Thus, the transgene is stably inserted into the host genome. For those readers who would like additional information on lentival gene therapy I recommend you reed this report available on PubMed. Kenneth Lundstrom does a great job discussing the pros and cons of each approach.

AAV is a naturally occurring non-pathogenic virus that is not known to cause any disease in humans. AAV has a number of advantages as a delivery vehicle for in vivo applications of gene therapy. AAV vectors do not replicate inside the host cell, preventing their spread to unintended tissues, and they typically integrate at a very low level into the host cell's genome, reducing the risk of insertional mutagenesis. Moreover, cellular tropism can be effectively modulated by using the natural tropism of different AAV serotypes, synthetically engineering the AAV capsid, and/or altering the transgene's promoter sequence. AAV vectors are also able to transduce non-dividing cells (such as RPE cells in the retina), and once incorporated into a host cell, they can drive the expression of a therapeutic protein for years. Last, AAV vectors can carry a good amount of genetic material, up to 4.5kb permitting them to target a range of indications. Since AAVs are non-replicating and generally non-integrating, the viral genome is typically not copied when an infected cell divides. Therefore, there is a theoretical risk that the efficacy of AAV based therapy in dividing cells could wane as an increasing number of divisions occurs.

A large number of clinical trials of AAV gene therapy are either under way, or have been completed. Applications have been diverse, ranging from hemophilia to REP65-mediated blindness and Parkinson's disease. AAV is versatile, and can be delivered through a number of routes of administration including intravenous, intramuscular, intrapleural, intravitreal, subretinal, and intracranial. For example, in lysosmal storage disorder (LSD) and hemophilia, AAV gene therapies are delivered systemically via intravenous (i.v.) route of administration and liver cells are transduced. In more localized diseases such as retinal dystrophy, choroideremia, X-linked retinoschisis (XLRS), the gene therapies are directly injected into the eye. In advanced Parkinson's disease, the gene therapy candidate is injected intracranially.

Fanconi Anemia - A rare disease with limited treatment options and a median survival of 29 years

Fanconi Anemia (FA) is a rare autosomal recessive DNA repair-deficiency syndrome characterized by aplastic anemia and progressive bone marrow failure. Though FA is a blood disorder, broad complications across a number of organ systems are associated with the syndrome such as defects of the eyes, ears, bones, kidneys and the heart. Perhaps most important, up to 30% of patients with FA develop leukemia, myelodysplastic syndrome (MDS), and or solid tumors at ages between 5 and 15. The median life span for FA patients is approximately 29 years.

Disease Progression: Unmet need for a treatment for FA

Source: Kutler et al, Blood 101:1249, 2003

FA is a complex disease with abnormalities in at least 18 genes associated with the disorder. These genes typically belong in the FANC gene family (FANC A-G, FANC CJ, FANC CL, and FANC M). The FANC gene family is associated with the DNA repair pathway. A mutation in any of these genes renders cells unable to properly repair damaged DNA. FANC A, B, C, E, F, G, L and M) form a nuclear complex termed the FA core complex. The FA core complex is required for monoubiquitination of the FANCD2 protein. Monoubiquintination of the FANCD2 protein allows for FANCD2 to translocate to sites of DNA damage to facilitate BRCA2/FAN CD1 and FANC E function in homologous recombination for DNA repair. Due to mutations in this DNA repair machinery, FA patients are simply unable to repair DNA damage that occurs naturally as cells divide, are exposed to mutagens, etc. Depending upon the exact DNA insult that occurs, unrepaired DNA can lead to abnormal cell death (most commonly) or uncontrolled cell growth. The abnormal cell death in turn creates FA's characteristic anemia and other organ defects. In other cases unrepaired DNA damage leads to uncontrolled cell growth and the development of a leukemia, tumor, or MDS. While it is extremely uncommon for any one DNA insult to generate cancer rather than cell death, DNA damage is occurring constantly within millions of cells in any human. Therefore, with millions of potentially oncogenic unrepaired mutations occurring it is unsurprising that FA patients have a significantly increased risk of developing cancer.

Approximately 60% of FA cases are due to mutations in the FANC A gene (the specific genetic abnormality that Rocket's lead program addresses). Approximately half of FA patients are diagnosed prior to age 10 while about 10% are diagnosed during adulthood. The remaining ~40% of FA patients are diagnosed during their teenage years. Birth defects such as undeveloped skull, eyes, or abnormalities in radial bones, kidney, skeleton, or skin pigmentation often facilitate early diagnosis. The definitive test for FA is a chromosome breakage test using crosslinking agents (dieposxybutane or mitomycin C) in isolated patient blood cells. While blood cells from healthy volunteers are able to correct most of the crosslinking agent induced DNA damage, FA patients' cells are incapable of correcting the damage from DEB or MMC treatment. Other methods of diagnosis include the use of molecular genetic testing on the 18 genes associated with FA such as sequencing analysis. The only curative therapy for FA is hematopoietic stem cell transplantation (HSCT) (there is good information on this here).

However, HSCT has a number of notable difficulties and complications. For one, it can be difficult to find a matched donor so that the transplant can be performed with a reasonable likelihood of success. Even when a suitable match is found, HSCT confers a high degree of morbidity and mortality, particularly in FA patients. Recent advances in conditioning regimens and supportive care have reduced treatment-related mortality from 38% or higher to 5-10% at most centers; nonetheless, such rates of death due to the procedure are notable. Moreover, HSCT can have major short and long-term complications including veno-occlusive disease, infections, infertility, secondary malignancies and graft-versus-host disease. GvHD can be particularly problematic and can evolve into a life-long condition causing serious damage to the lung, skin and mucosa. In severe cases GvHD can also be deadly. Conditioning chemotherapy is also inherently mutagenic and is therefore associated with additional risk of tumors developing post-transplant (secondary malignancy). FA patients are unable to repair these mutations that occur throughout the body during conditioning. Therefore HSCT confers a particularly high risk of secondary malignancy to FA patients. For example, the chance of an FA patient developing a new malignancy such as squamous cell carcinoma is estimated to be ~4x higher post HSCT. Thus, while HSCT is curative of FA's characteristic hematological manifestations, "cured" patients remain at an elevated risk of experiencing morbidity/mortality.

There can be spontaneous improvement in a small fraction of FA patients due to somatic mosaicism. Somatic mosaicism results from the spontaneous, random mutations that occur during normal cell division and proliferation. The cells clonally derived from the initial mutant cell have a different genotype than their neighbors. Somatic mosaicism has been reported in patients with FA. In cells of FA patients, the reversion of a pathogenic FA allele to a functional wild type allele confers a survival advantage on the cell vs. its non-reverted sibling cells. The cell(s) with the wild type reversion exploit this survival advantage to gradually populate the bone marrow. Up to 10-15% of FA patients develop somatic mosaicism resulting in disease stabilization or even improvement in bone marrow function for a prolonged period of time. This observation supports the theory that a very small percentage of corrected cells is sufficient to change the clinical course of FA. Somatic mosaicism therefore provides a rational as to why gene therapy may be successful in the treatment of FA patients and RCKT refer to somatic mosaicism as natural gene therapy.

Somatic mosaicism in FA leads to stabilization/correction of blood counts, in some cases for decades. This uncommon variant results from a reverse mutation and demonstrates that a modest number of gene-corrected hematopoietic stem cells can repopulate a patient's blood and bone marrow with corrected (non-FA) cells.

Source: Soulier, J., et al. (2005) Detection of somatic mosaicism and classification of Fanconi anemia patients by analysis of the FA/BRCA pathway. Blood 105: 1329-1336

Commercial launch likely in 2021/22 with >$1bn potential.

RP-L102 is a lentiviral vector that employs the phosphoglycerate kinase (PGK) promoter to express the FANCA gene. Expression is further facilitated by inclusion of the Woodchuck Hepatitis virus posttranscriptional regulatory element (WPRE). RP-L102 was licensed from the Centro de Investigaciones Energeticas, Medioambientales Y Technologicas (CIEMAT) in Madrid, Spain. CIEMAT is the Investigational Medicinal Product Dossier (IMPD) sponsor of the ongoing Phase I/II FANCOLEN-1 study of RP-L102 in patients with FA. Rocket is entitled to the data and commercial rights to the drug product generated under the CIEMAT sponsored IMPD.

RP-L102 gene therapy could have significant advantages over HSCT for FA patients. Perhaps the most notable advantage is that RP-L102 is being developed by Rocket and its academic collaborators without the use of bone marrow conditioning with chemotherapy agents. In contrast, all HSCT protocols require chemotherapy conditioning. The lack of conditioning confers a number of advantages. For example, without the use of chemotherapy agents, patients do not need to be hospitalized, and treatment can occur outside of a transplant-unit. Most important, FA patients have a diminished ability to correct damage to genetic material like that typically caused by chemotherapeutic agents. Therefore, by avoiding chemotherapy conditioning, the FA patients should not have an increased risk of head and neck cancer or leukemia. Moreover, because of their toxicities in FA bone marrow transplants are indicated specifically for patients with signs of bone marrow failure. RPL102 should enable treatment earlier in the disease course, well before bone marrow failure. This will allow patients to avoid the risks associated with the low blood counts of bone marrow failure, including anemia, infections and hemorrhages.

Gene Therapy Value Proposition: Early, Low-toxicity Intervention to Prevent Hematologic Failure

Source: Company data

RCKT recently presented data at the American Society of Hematology of the first four patients treated with RCKT's lentivial gene therapy for FA.

Bone Marrow Engraftment: Increasing Levels Provide Evidence of Potential Survival Advantage of Gene-Corrected FA Cells

Source: Company data

Increases of Corrected Leukocytes Support Restoration of Normal Bone Marrow Function Consistent with Mosaic Phenotype

Source: ASH 2018

Functional Correction of Bone Marrow

Source: ASGCT 2018

RCKT is a best in class gene therapy company with multiple shots on goal. During the next 12 months, data will likely emerge on many of these assets and if successful, should lead to considerable upside. This report focuses on the company's lead asset and data that has been presented to date is extremely supportive of a likely successful outcome, which would lead to considerable upside. As with all biotech investments, there are obviously significant downside risks and the worst case outcome for this stock is that it ends up at zero. However, with 5 pipeline assets in development, this risk is lower than biotech companies that are reliant upon a single driver of value.

Disclosure: I am/we are long RCKT. I wrote this article myself, and it expresses my own opinions. I am not receiving compensation for it. I have no business relationship with any company whose stock is mentioned in this article.

Read more:
Blast Off With Rocket Pharmaceuticals - Seeking Alpha

Recommendation and review posted by Bethany Smith

A new study has shown the power of genetic testing to pick out the best drugs for children with cancer to extend and improve their lives signalling a new era of precision medicine for young patients.

The pilot including more than 200 children found that half had gene mutations that are targetable by adult cancer drugs that are either available as standard treatment or via clinical trials.

Although few children on the study went on to receive adult drugs, those who did receive targeted therapies had significant benefits.

But the study also laid bare the regulatory and funding barriers to children receiving the newest drugs, as only 7 per cent of those with targetable mutations were able to access the appropriate adult drug.

The study was led by The Institute of Cancer Research, London, andThe Royal Marsden NHS Foundation Trust, and offered genetic testing of tumours to children as part of a clinical trial. Some 20 additional hospitals around the UK participated by sending childrens biopsies in for testing.

The research ispublished in theEuropean Journal of Cancertoday (Thursday) and was primarily funded by the parent-led charityChristophers Smileand theNIHR Biomedical Research Centreat The Royal Marsden and The Institute of Cancer Research (ICR).

Researchers used a gene panel test to read the DNA sequence of 91 genes that drive cancers growth and spread from 223 childrens tumour biopsies looking for potentially targetable mutations.

Solid tumours such as those of the brain, central nervous system, bone and muscle are rare but have much worse survival rates than childrens blood cancers such as leukaemia. Surgery is often not possible and treatment is limited to blunt instrument chemotherapies.

The researchers first validated the panel test, showing it to be than more than 99 per cent sensitive at picking up the 91 mutations, even with just 50 nanograms of DNA which is around 1,000 times less than the weight of a grain of table salt.

Using the test, they found 51 per cent of tumour samples tested had mutations that could be targeted by adult cancer drugs.

The most common potentially treatable mutations were in the genes ATRX, CDKN2A and CTNNB1 which were each found in 12 childrens tumours. MYCN mutations were found in 11 tumours and PI3K3CA mutations in 10 tumours.

Three children had BRAF gene mutations which are common in melanoma skin cancers and can be treated using a combination of the drugs dabrafenib and trametinib.

Using these melanoma drugs, one of the children had their brain tumour held in check for 13 months before developing resistance. Another was on the drug for nine months with no progression of disease. The third child couldnt tolerate the combination but had a response to dabrafenib for 15 months.

But there are still challenges to overcome, since the majority of children with targetable mutations didnt receive adult drugs because there was no trial available for the drug in children, they were unable to access the drug on the NHS or they were too ill to receive an experimental treatment by the time they were tested.

For eight of the patients, there were samples available at diagnosis and after treatment and in six of those, testing revealed that the cancer had acquired new mutations as it evolved in response to treatment. That highlights the need to take an additional biopsy at relapse to search for targetable mutations.

For 12 of the children, the researchers were also able to test for cancer gene mutations in DNA released from tumours into the bloodstream from a blood sample. They found blood tests picked up almost all of the mutations found in the tumour, and in some cases they also found extra mutations which were not detected in the tumour region biopsied.

In future work the researchers will use serial blood tests to monitor how tumours evolve in response to therapies which will be particularly useful in hard-to-biopsy tumours.

Additionally, for children with brain tumours, the researchers are now looking at using samples of cerebral-spinal fluid to find drug targets. Although lumbar punctures are invasive, they are less so than a brain biopsy.

Study author Dr Sally George, Clinical Research Fellow at the ICR and Consultant Paediatric Oncologist atThe Royal Marsden, said:

Children deserve the very best cancer treatments, so they can live as long as possible and as well as possible. We desperately need better, more intelligently designed treatments which can give children longer with their families with fewer side effects.

By testing tumours for specific gene mutations, we have shown its possible to identify new smarter, kinder treatment options for children, which may potentially give these patients much longer with their families after conventional therapies have failed.

But our study also exposes the desperately frustrating barriers that children still face in receiving new treatments barriers which lie in the regulations controlling how drugs for children are developed and approved.

Study leaderProfessor Louis Chesler, Professor of Paediatric Cancer Biology at the ICR, and Consultant at The Royal Marsden, said:

Our study has demonstrated that we have the scientific knowledge and technology to get children access to state-of-the-art testing and treatments. And because our testing currently only assesses a focused set of well-known and clinically meaningful mutations, it is more practical, faster and more cost-effective than looking at the whole genome.

In future, I want to be able to treat more children whose tumours have these targetable mutations with better drugs, as currently not all children have access. But gathering the molecular data is the first practical step to making this possible. This data, and more that we are continuing to collect, will be good evidence to more clearly guide use of the most appropriate drug for each child.

It is also very important that we extend very robust and detailed testing to children at time of diagnosis, so we can more accurately classify and treat these cancers in the first place. We will also be looking at the utility of the approaches for detecting cancer relapse, a very important area where we currently have few tools to anticipate what treatments may be required with adequate time to do so.

Dr Mike Hubank, Head of Clinical Genomics at The Royal Marsden and Reader in Translational Genomics at the ICR, said:

The next steps for testing will be to look at using liquid biopsies to detect targetable tumour mutations without having to rely on invasive biopsies to get the information.

Our early results, presented here, show that we can detect more mutations in blood than we do in conventional biopsies. It is probably in the blood that we get a more complete picture of the whole tumour, and not just the small part of the tumour that was removed for testing. Blood-based testing will also allow us to monitor tumour response to treatment and may be able to detect relapses early, offering the possibility of finely tuned, personalised treatments in the future.

Karen Capel is the founder and trustee of UK childrens cancer charityChristophers Smile, who funded the development of the test. Karen and her husband Kevin have campaigned tirelessly to improve the treatment for children with cancer after their son Christopher died from medulloblastoma in 2008. Karen said:

When our son died there was no biological information available to doctors about individual childrens tumours. There is an urgent unmet need to provide new treatments for those children diagnosed with the most aggressive and hard-to-treat cancers.

This test Professor Chesler and colleagues at the ICR developed is a first for children. We believe gene sequencing is the key foundation stone in enabling personalised medicine, and it will help to bring new treatments for children a step closer.

Building on the foundations of the sequencing test, blood tests could provide critical information for any child from diagnosis throughout their treatment and into remission opening the door for additional, continued or changed treatments. We are determined to fight for these liquid biopsies to become standard of care at the earliest opportunity.

Reference: George, et al. (2019) A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations. EJC. DOI: https://doi.org/10.1016/j.ejca.2019.07.027

This article has been republished from the following materials. Note: material may have been edited for length and content. For further information, please contact the cited source.

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The Power of Genetic Testing Picking Out the Best Drugs for Children With Cancer - Technology Networks

Recommendation and review posted by Bethany Smith

If you found out today you were at a high risk of being diagnosed with Alzheimers disease, what would you do? Crawl under the covers? Take that exotic vacation? Wish youd never found out?

Or would you change the way you live?

When a genetic test revealed that Jamie TenNapel Tyrone had a 91 percent chance of developing Alzheimers, she slipped into a deep depression. She thought about suicide.

Tyrone had been worried about multiple sclerosis. Thats why she took the test, to see if she had any of the genes associated with MS following some neurological symptoms. At 49 years old, Alzheimers disease wasnt anywhere on her radar.

I was devastated, Tyrone said. She was also critical about the way the 2009 study was designed, without genetic counseling before or after, leaving her completely unprepared for the shock of her results.

Then she surprised herself. She wrote a book about her experience to guide others through the pros, cons and pitfalls associated with genetic testing. It was co-written with geriatric neurologist Marwan Noel Sabbagh.

I think people now can get commercial genetic testing (services) like 23andMe and not understand the consequences of what theyre getting tested for, Sabbagh said.

Fighting for my Life: How to Thrive in the Shadow of Alzheimers describes the emotional journey Tyrone went through after participating in genetic testing as part of a research study 10 years ago.

The basis for the study was to find out if, or how people would change their lifestyle if they knew they had a high risk of disease by using genetic testing. The research showed that knowing the risk of disease did not lead to significant lifestyle changes.

Without the counseling, Tyrone said she felt abandoned by researchers when she found out she has two copies of the apolipoprotein E4 gene, which is linked to an increased risk for Alzheimers.

Afraid of the stigma associated with the disease, she avoided discussing her results at first, fearing that shed be discriminated against or ostracized.

There are laws that protect people from certain forms of discrimination related to genetic information, but theyre not all-inclusive.

The Genetic Information Nondiscrimination Act protects individuals from being denied health insurance or charged higher premiums based only on the genetic predisposition to a disease. It also means that employers cant make decisions to hire, fire, segregate or otherwise mistreat employees based on the results of genetic testing.

But it doesnt protect access to long-term care, life or disability insurance.

For three years I didnt talk about it and I became very depressed, said Tyrone, who lives with her husband in Ramona. I contemplated not being in the world.

After years of depression, suicidal thoughts, therapy and being diagnosed with post-traumatic stress disorder, Tyrone now volunteers as a research collaborator, or what she calls a lab rat. She wants to help scientists find a cure for the disease and hopes that participating might help her to prevent the onset of the disease, or cure her someday if needed.

The first person cured of Alzheimers disease is going to be a research participant, Tyrone said, paraphrasing UsAgainstAlzheimers founder George Vradenburg.

If she had it to do over again, would she take the test? Tyrone said she probably wouldnt.

I truly believe that if I had genetic counseling during the consent process, I would have chosen not to be tested, she said.

Even still, Tyrone said finding out about her risk has been a gift in some ways because it prompted her to help others through public speaking and writing her book. She hopes her story can help people to decide if and when to take genetic tests in search of potential health risks.

Co-author Sabbagh said he generally advises that genetic testing only be done if there are already symptoms present. He also suggests working to increase brain health early on before memory loss symptoms begin.

The fact is that by the time you come into the office to get seen for your memory issues, the changes in the brain have been accumulating for a long time, he said.

Now 59, Tyrone said shes cognitively healthy, but still searching for answers to the mysterious neurological issues that led her to the testing in the first place.

Read the rest here:
When genetic testing goes sideways: One woman's cautionary tale - The San Diego Union-Tribune

Recommendation and review posted by Bethany Smith

The agency has expressed worry that unsupported claims about gene-drug links could be dangerous if they spur patients to start, stop, or switch medications in inappropriate ways. But the American Clinical Laboratory Association says the warnings could stifle a burgeoning industry.

Stat:Groups Push Back Against Troubling FDA Crackdown On Genetic TestsIn recent weeks, the genetic testing world has been rattled by the Food and Drug Administrations efforts to quietly pressure a number of companies to stop reporting results to patients about how their genes may interact with specific drugs. Now, increasingly, the industry is pushing back. On Wednesday, a trade group that represents clinical laboratories sent a sharply worded letter to the agency calling its enforcement actions troubling and inappropriate. The letter, from the American Clinical Laboratory Association, warned that the agencys actions could stifle the growth of a burgeoning industry and make it harder for patients to get the right types and doses of their medications. (Robbins, 9/18)

In other news on the FDA

Stat:FDA To Modernize Its IT And Make More Efficient Use Of DataDr. Amy Abernethy, the principal deputy commissioner at the Food and Drug Administration, is unveiling a three-point plan to radically redirect the agencys efforts at using computer technology. At a Wednesday meeting held by Friends of Cancer Research, a patient advocacy group, Abernethy, who is also the FDAs acting chief information officer, plans to outline how regulators can move more of their work to the cloud virtual servers and automate work that is now done by hand. This, she said, could change the way that the agency interacts with the companies it regulates. (Herper, 9/18)

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FDA's Warnings Over What Genetic Testing Companies Can Report To Patients Deemed 'Troubling' By Industry Group - Kaiser Health News

Recommendation and review posted by Bethany Smith

Federal authorities warn of a telemarketing scam that offers "free" cancer screenings that lead to Medicare fraud. Federal authorities warn of a telemarketing scam that offers "free" cancer screenings that lead to Medicare fraud. Related stories

FORT MYERS, Fla. - Federal investigators call it the latest scheme targeting consumers on Medicare and it all begins with claims of free screening for cancer.

Tammy Rose fears her 83-year-old mom, who lives in Sebastian, recently fell for the scam after receiving a call from a telemarketer.

"They started asking her questions like what did your mother die from? What did your father died from? What's your family history?"

Tammy's mom has heart issues, cancer runs in the family so when the telemarketer pitched free cancer screening, her mom bought in. A package of q tip swabs and a dispenser arrived a few days later.

"She was to swab one cheek corner and then swab the other cheek corner," Tammy said. Her mom was directed by the company to place the swabs in separate bags and send it back to the facility, which she did. A few days later, Tammy received a frantic call from her mom.

"My mom called me crying saying she just saw something on TV saying it was a fraud," she said.

On the west coast of Florida, complaints about fraudulent DNA cancer screening is now the number one call at the Area Agency on Aging for Southwest Florida says senior advocate Camalita Aldridge.

"We're seeing more and more of these cases. There are various forms of the scam. Folks can receive these kits at home whether they're solicited or not," Aldridge said.

Aldridge says companies who do this fraudulently are targeting Medicare patients by telling them each screening is free. These companies are screen patients for which cancer or genetic testing is not medically necessary and/or not ordered by the beneficiary's doctor. But every DNA screening test represents an opportunity to cash in since Medicare (taxpayers) will pay for it. Each screening can range from $10,000 per test to upwards of $30,000 says Aldridge.

"They work on someone fear," she said. "If a consumer thinks that if I can know ahead, diagnose and then treat, then I might prevent [cancer], scammers know this so that's what they do," she said.

While legitimate DNA cancer screening can be helpful for some people who qualify, experts advise any health screening should take place at your doctor's office and be approved by your own doctor not a stranger.

Cole Buckley of Fort Myers showed us several flags and fliers he had made for what he thought would be a lucrative DNA cancer screening business.

"I was going to be the man on the ground," he said. "I was going to go to different things like health fairs, flea markets and set up a booth where we can pre-screen people," he explained about the pitch he heard about in January.

Buckley said the company, which no longer offers DNA screening, told him to only target seniors on Medicare and a company doctor, who Buckley never met, would approve each test. Buckley said he spent $200 to sign on with the company and another $1000 in marketing for the flags, fliers and business cards he had made which all tout "free DNA cancer screening." But in the end, he said, the company pulled out and never sent him any cancer screening kits. Buckley said he felt duped.

"I thought I was going to make a lot of money," he said. When asked how much, Buckley said he was told by the company it would be "thousands per month."

Tammy Rose's mother doesn't know yet if Medicare was charged for her screening. She hasn't received any results from her so-called "free" screening but she did file a police report and Tammy reported the company to Medicare knowing if her mother fell for it, chances are, thousands of others are doing it too.

"I'm angry that my mother was targeted. Someone's getting rich off this and they need to be in prison," she said.

How to protect yourself from falling victim to "free" cancer screening - If a genetic testing kit is mailed to you, don't accept it unless it was ordered by your doctor or return it to the sender. - Keep a record of the sender's name and date of your returned items. - Be suspicious of anyone who offers you "free" genetic or cancer screening and then requests your Medicare number. - Be cautious of unsolicited requests for your Medicare numbers. Don't provide your Medicare information to anyone you don't know.

- If you suspect Medicare fraud, contact the Office of the Inspector General.

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Genetic testing latest target for fraud - KTVZ

Recommendation and review posted by Bethany Smith

DENVER Sisters Marcy and Elissa Newman have always known they had strong familial ties to breast and ovarian cancer.

Our grandmother was a two-time breast cancer survivor, and we had several aunts that had breast cancer and had passed away, Marcy said.

Even so, the sisters only got tested for the BRCA gene after Marcy was diagnosed with ovarian cancer at the age of 47. The gene, often known as the breast cancer gene, actually raises the risk for multiple types of cancer.

When Marcy found out she was BRCA1 positive, she called her sister.

As we were hanging up the phone she said, 'By the way, Im BRCA1 positive, and you have a one in two, or 50 percent, chance of having the gene,' Elissa said.

She said she was encouraged to get tested even earlier in life because of her family history, but at the time, insurance laws allowed companies to discriminate based on a pre-existing condition.

Thats no longer the case, but genetic counselor Lisa Mullineaux said people are still fearful of getting genetic testing for other reasons.

They may not be ready to know that they have an increased risk, or theyre not ready to take action, said Mullineaux.

Some people who find out they have the BRCA gene may simply opt for additional screenings or may take birth control pills to reduce their ovarian cancer risk. But Elissa decided to take more extreme action. She had her ovaries, Fallopian tubes, uterus and breasts removed.

To reduce my risk to that of the natural population, was well worth it, she said.

Elissas 20-year-old will soon get tested for the BRCA gene, because men who have the gene face an increased risk for prostate, pancreatic and other cancers.

The United States Preventative Services Task Force recently updated the recommendations for BRCA1 and BRCA2 testing to include more of the population. And since its now considered preventative, the testing may be covered by insurance.

Marcy is celebrating 5 years as an ovarian cancer survivor, but wishes shed been told about all her options earlier.

I would have expected an expert who knew my family history would have had me take additional steps and screenings, she said. Now, I know we have to advocate for ourselves and educate others.

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Sisters encourage women, men to get tested for cancer gene - The Denver Channel

Recommendation and review posted by Bethany Smith

CHICAGO (CBS) The price of DNA testing to see if we are genetically more likely to develop certain health complications is dropping, but the benefits are still out of reach for many who cant afford it. One area hospital is now offering the tests free of charge to help patients better prepare for the health risks ahead.

CBS 2 Morning Insider Vince Gerasole took the test and shares the changes he now has to make in his life.

The world of genetic testing can save lives, helping patients detect mutations in their DNA that could lead to certain types of cancers and other medical complications.

The benefits, they can be many, said Dr. Peter Hulick, medical director of the Mark Neaman Center for Personalized Medicine at NorthShore University HealthSystem.

Youve seen the commercials; once costing thousands of dollars, DNA tests are now marketed to the masses at prices a bit more reasonable, most near $200. Its still a price not all can afford; minorities, especially, have been under-represented in the populations taking the tests.

Thats part of the reason why we opened this to our primary care network, so anyone of any ancestry can have access to this information, Hulick said.

NorthShore University HealthSystem is now providing DNA screening free of charge through a program called DNA 10K.

It aims to make interpreting the results and taking action if necessary part of standard health care.

What it allows us to do is to make a better plan, so that you can be proactive with this information so that we can get you on the right screening and prevention path, Hulick said.

CBS 2s Vince Gerasole participated in the process. Following a quick blood draw, his sample was sent to the labs at health technology firm Color. In a few weeks, a genetic counselor reviewed his results by phone.

The results included a significant red flag: several women in Gerasoles immediate family have died from breast cancer, so it was not much of a surprise that he tested positive for the BRACA 1 mutation, making him more likely to develop male breast cancer, as well as pancreatic and prostate cancer.

Genetics is not a crystal ball. It doesnt predict your life. It doesnt tell you when or exactly if something is going to occur, Hulick said.

However, the results can help patients consult with their doctors and make choices ranging from lifestyle to more frequent medical screenings to preventative surgeries like breast removal.

Its not destiny. Genetics isnt destiny, Hulick said.

But if available to more patients, it could be destined to help.

Call 847-570 GENE (4363) to learn how you can participate.

Originally posted here:
DNA Testing Can Help Detect Possible Health Risks; Genetics Is Not A Crystal Ball - CBS Chicago

Recommendation and review posted by Bethany Smith

16 September 2019

Seventeen former employees of a genetic testing company, Orig3n, have accused it of not meeting scientific standards and returning inaccurate results.

In an interview with Bloomberg Businessweek, the employees, who had previously been managers, lab technicians, software engineers, marketers, and salespeople, said that the company's test results could not be replicated for the same person. The company, based in Boston, Massachusetts, allegedly built software to automatically return the initial outcome if a repeat analysis did not match. A technician has reported a document of 407 such errors over a period of three months from fewer than 2000 tests.

'Accurate science didn't seem to be a priority,' a former lab technician told Bloomberg. 'Marketing was the priority.'

Orig3n's genetic tests, costing between US$28 and $298, are used to advise customers on lifestyle choices and help them to identify their genetic predispositions and the 'superhero traits' that they are most likely to have.

The employees claim that the advice provided to customers was often generic good health practice collected from the internet or had limited scientific evidence. Examples included eating kale, wearing sunglasses, or eating sugar and almond oilto reduce stretch marks.

Co-founder and CEO of Orig3n, Robin Smith, said the company 'wholeheartedly' disputed these assertations. He said the company has operated under the Clinical Laboratory Improvement Amendments (CLIA) - US federal testing regulations to ensure proper practice, since November 2017 and that many of the claims concern a period before this.

'Orig3n had to change many of its laboratory staff precisely because they simply wanted to "do things their way", rather than in compliance with CLIA,' he said. He also offered to review any tests if customers have concerns. The former employees were at the company between the summer of 2015 and autumn 2018.

Orig3n was previously singled out as part of an NBC Chicago investigation into genetic testing in 2018. When the reporter submitted genetic material from a Labrador retriever called Bailey, the company produced a seven-page report about her genetic traits, stating that she had strong muscle force and cardiac output for long endurance, while failing to note that she was not a human. Other companies said that the genetic material was 'unreadable'.

Read more from the original source:
DNA company accused of fudging people's genetic test results - BioNews

Recommendation and review posted by Bethany Smith

--(BUSINESS WIRE)--Wolters Kluwer Tax & Accounting:

What: In recent years when presented with the opportunity, the Internal Revenue Service (IRS) has identified a number of expenses as qualifying medical expenses for purposes of the itemized deduction for medical expenses or for qualified distributions from health savings accounts or flexible spending accounts. These have included smoking cessation programs, weight loss programs, and gluten-free products for celiac disease. Now, in a private letter ruling, the IRS has spelled out the circumstances under which genetic testing might qualify as a medical expense.

Why: While private letter rulings cannot be relied upon by taxpayers other than the taxpayer to whom it was issued, the ruling on genetic testing does indicate the IRS thinking on the matter and how they might treat similar situations:

Who: Federal tax expert Mark Luscombe, JD, LL.M, CPA, Principal Federal Tax Analyst at Wolters Kluwer Tax & Accounting, is available to discuss these developments with respect to genetic testing and qualified medical expenses in general.

PLEASE NOTE: The content of this article is designed to provide accurate and authoritative information in regard to the subject matter covered. The information is provided with the understanding that Wolters Kluwer Tax & Accounting is not engaged in rendering legal, accounting, or other professional services.

Contact: To arrange interviews with Mark Luscombe, other federal and state tax experts from Wolters Kluwer Tax & Accounting on this or any other tax-related topic, please contact:

MARISA WESTCOTT212-771-0853marisa.westcott@wolterskluwer.com

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MEDIA ALERT: IRS Approves Medical Expense Deduction for Genetic Testing - Business Wire

Recommendation and review posted by Bethany Smith

The ConversationSep 21, 2019 16:50:49 IST

Dramatic developments in genetics research and the availability of commercial genetics tests have put us in a very modern predicament we can now find out (quickly, easily and cheaply) whether we personally hold genetic risk factors that put us at a substantially increased risk of Alzheimers disease. In addition, we have recently shown that brain changes can be identified in people holding these genetic risk variants as early as 20 years old.

Should we be testing ourselves? Should we worry? No. Heres why:

Representational image credit: StunningArt/Shutterstock

Genetic research has revealed that some individuals carry variants of specific genes that confer an increased risk of developing Alzheimers disease in later life. For example, carriers of the 4 variant of the APOE gene are approximately three to eight times more likely to be diagnosed with Alzheimers disease after age 60 than individuals without this variant. The more variants, the greater the risk with a maximum of one inherited from each parent.

In our recent research, we looked at these genetic factors in young people (around 20 years old, on average). We split them into higher-risk and lower-risk groups depending on whether they did or did not carry the APOE-4 gene variant, respectively.

Using advanced brain imaging techniques, we were able to show that it is possible to detect subtle differences in particular brain networks for the higher-risk young adults, several decades before any clinical symptoms of Alzheimers emerge.

While brain structure and function were significantly different between the risk groups on average, it is very important to point out that not all higher-risk individuals go on to develop Alzheimers disease. (Note that we say higher not high risk.)

The brains of many of these individuals were comparable to those at lower risk. This means carrying a higher-risk gene variant does not necessarily lead to early brain changes, or an Alzheimers diagnosis later in life.

Public interest in genetics and gene testing is booming. Recent times have also seen highly publicised incidences of people responding to their own genetic risk with drastic interventions. For instance, Angelina Jolie, who has a faulty copy of the BRCA1 gene, associated with breast cancer and had elective surgery to remove both breasts and some of her reproductive organs.

Direct to consumer genetic testing kits sold by companies now provide people with convenient and affordable access to their personal genetic information, including their genetic risk for specific diseases, including Alzheimers.

But the relatively low cost of these tests reflects the fact that they typically only cover a fraction of the genome. The results, therefore, neglect the contribution of the rest of the consumers genetic code. This will include other genes with protective, as well as negative, effects.

Oral swaps and saliva samples are used by Direct To Consumer commercial genetic tests. image credit: B-DSPiotrMarcinsk/Shutterstock

Of other concern, these tests have been shown to frequently generate false positive results: indeed, one study found approximately 40% of variants in a variety of genes reported in raw commercial genetic test data were false positives. This could lead to unnecessary distress, treatment and lifestyle adjustments. These tests also come with privacy and social concerns.

On the upside, the popularity of commercial genetic testing partly reflects consumers positive desire to be proactive about their health. Consumers concerned about commercial genetic test findings should, however, request confirmatory tests from their clinician. These consumers should also understand that the disease risk reports they have purchased at best provide a partial answer to the question they are trying to address, because disease risk is about much more than genetics alone.

The next step for our research is to find out what leads some people at higher-risk to go on to develop these early brain changes, but not others. Do these people exercise or sleep less, maintain a poorer diet, or have poorer social relationships? Many possible answers involve lifestyle factors that could potentially be altered to buffer individuals against their genetic risk.

The only way to properly understand which lifestyle factors may have such a protective effect is to study large numbers of people with varying degrees of genetic risk over several decades.

We are part of an international team of scientists undertaking one such study, led by Professors Kim Graham and Andrew Lawrence at Cardiff University. The project involves collecting advanced brain imaging and cognitive test data from a large group of approximately 240 young adults. These individuals are part of a cohort that has been studied since birth, so we can access a wealth of retrospective health and lifestyle data.

Can lifestyle factors like reading, exercise and socialising protect us from our genetic risks as we age? image credit: RomanSamborskyi/Shutterstock

Smaller, isolated studies looking at lifestyle factors might currently be missing the big picture. Brain differences have been found in these high-risk groups between people who do and dont exercise regularly. This could suggest exercise has a protective effect on the brain, and may, in turn, mitigate Alzheimers risk. It could also be that exercisers engage in other protective behaviours like eating a healthier diet. It is only with large-scale cohort studies that we can begin to disentangle the genetic and lifestyle contributions to cognitive performance, the brain and Alzheimers risk.

Finally, if you are considering making lifestyle changes to offset your genetic risk for Alzheimers, taking regular exercise and maintaining a healthy lifestyle is seldom bad advice. Other drastic lifestyle changes, however, are likely unjustified.

Mark Postans, Postdoctoral research associate, Cardiff University and Carl Hodgetts, Research Fellow in Cognitive Neuroscience, Cardiff University

This article is republished from The Conversation under a Creative Commons license. Read the original article.

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Alzheimer's Day: Carriers of risky gene show brain changes in its 20s but we don't need to worry - Firstpost

Recommendation and review posted by Bethany Smith

Molecular diagnostics market is growing at a significant rate due to increasing awareness for the same and rising investments in the field. Genetic testing refers to a process of analysis of human DNA in any of its form or related products such as RNA, chromosomes, DNA and others. Genetic testing is widely used for detection of diseases that are related to genotype, phenotype or mutation. Also, genetic testing is done to detect karyotype for clinical purposes. Popularity of genetic testing is increasing due to various advantages offered by this procedure such as detection of genetic abnormalities in early gestation period of about 8 to 10 weeks. In addition, it also helps to determine the sex the fetus. Genetic testing market is growing at a significant rate due to increasing awareness and discoveries in the field. Of all the tests performed for genetic testing, screening for genetic mutations with Cystic Fibrosis Trans-Membrane Conductance Regulator (CFTR) gene is most widely performed.

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North America dominates the global market for genetic testing due to increasing prevalence of diseases by genetic disorders and high technological advancement in the region. Europe, followed by Asia, is expected to show high growth rate in the next few years in genetic testing market. China and India are expected to be the fastest growing genetic testing markets in Asian region. Some of the key driving forces for genetic testing market in emerging countries are increasing R&D investment, large pool of patients and rising government funding.

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Various factors such as advancements in genetic testing technologies, increasing prevalence of genetic diseases and growing awareness are driving the global genetic testing market. In addition, government initiatives and increased R&D activities in the field have been driving the genetic testing market. However, high cost involved, lack of experienced professionals and stringent regulations in some regions is restraining the global genetic testing market.

Innovation of some new techniques for genetic testing, increased efficiency and accuracy are expected to offer good opportunities for global genetic testing market. In addition, emerging markets hold good potential for growth of genetic testing market due to rising patient pool and growing awareness in these regions. Some of the major trends that have been observed in the genetic testing market are shift of focus from clinical science to bioinformatics and growing popularity of these techniques, leading to high rate of adoption of genetic testing technology. Some of the major companies dealing in genetic testing market are Abbott Laboratories, BioRad Laboratories, Abbott Molecular Inc., AutoGenomics Inc., Celera Group, PerkinElmer Inc., Quest Diagnostics Inc., ELITech Group, Roche Diagnostics Corp., Applied Biosystems Inc., Roche Molecular Diagnostics Inc., Transgenomic Inc. and others.

Key points covered in the report Report segments the market on the basis of types, application, products, technology, etc (as applicable)

The report covers geographic segmentation North America Europe Asia RoW The report provides the market size and forecast for the different segments and geographies for the period of 2010 to 2020 The report provides company profiles of some of the leading companies operating in the market The report also provides porters five forces analysis of the market.

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Genetic Testing Market to Record Sturdy Growth by 2020 - Commerce Gazette

Recommendation and review posted by Bethany Smith

Increased of genetic diseases in the fetus and fetus, such as Downs syndrome, Edwards syndrome, and Pataus syndrome, is a driving force that has a large impact on the growth of the fetal and native genetic testing market. Increasing demand for genetic testing of the fetus and newborn to identify genetic abnormalities of 8-11 months before pregnancy and to determine the sex of the fetus is a factor for the growth of this market.

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Top Key Vendors:

Ariosa Diagnostics (Roche), Berry Genomics, BGI, Biorad, Illumina, Laboratory Corporation of America, Natera, Qiagen, Sequenom, Trivitron Healthcare and Verinata health..

By Geography: North America, United States, Canada, Mexico, Others, South America,Brazil,Argentina,Others,Europe,Germany,France,Italy,Spain,UK,Others,Middle East and Africa, Saudi Arabia, UAE, Israel, Others, Asia Pacific ,India, China, Japan ,Australia, Others

The base year considered for the study is New-born Genetic Testing and the market has been examined for the forecast period of 2026.The global New-born Genetic Testingmarket can be used an an insightful understanding for a diverse readership. This informative report provides vital information about the leading key players operating across the world. The competitive landscape has been elaborated on the basis of investment and productivity carried out by top-level companies. Successful business strategies have been roped in this viable analysis of New-born Genetic Testingmarket. This report inspects the entire demand and supply chain in the global New-born Genetic Testing market. It traces the journey of the market with an adjunct summary of several case studies. It conveys the information about distributors operating in the global demanding regions. Additionally, it evaluates dynamic aspects of the industries such as New-born Genetic Testing.

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It provides a forward-looking perspective on different factors driving or restraining market growth

It provides a technological growth map over time to understand the industry growth rate

It provides a seven-year forecast assessed on the basis of how the market is predicted to grow

It helps in understanding the key product segments and their future

It provides pin point analysis of changing competition dynamics and keeps you ahead of competitors

It helps in making informed business decisions by having complete insights of market and by making in-depth analysis of market segments

It provides distinctive graphics and exemplified SWOT analysis of major market segments

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Table of Content:

Chapter 1 Industry Overview of New-born Genetic Testing MarketChapter 2 Manufacturing Cost Structure Analysis of New-born Genetic TestingChapter 3 Technical Data and Manufacturing Plants Analysis of New-born Genetic TestingChapter 4 Global New-born Genetic Testing Overall Market OverviewChapter 5 New-born Genetic Testing Regional Market AnalysisChapter 6 Major Manufacturers Analysis of New-born Genetic TestingChapter 7 Development Trend of Analysis of New-born Genetic Testing MarketChapter 8 New-born Genetic Testing Marketing Type AnalysisChapter 9 Conclusion of the Global New-born Genetic Testing Market Professional Survey Report 2019Chapter 10 Continue.

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Innovative research of New-born Genetic Testing Market 2019 with Major Key Player are Ariosa Diagnostics (Roche), Berry Genomics, BGI, Biorad,...

Recommendation and review posted by Bethany Smith

A new case series raises the question of whether electronic gaming may cause ventricular arrhythmias and contribute to syncope in children with certain underlying conditions.

The authors report on four instances of syncope resulting from ventricular tachycardia (VT) or ventricular fibrillation (VF) in three children with either long QT syndrome (LQTS) or catecholaminergic polymorphic VT (CPVT) who were playing electronic war games at home. The underlying conditions were previously undiagnosed in two of the children.

"We are proposing that only a very small group of children may possibly be at risk of arrhythmia during gaming," study author Christian James Turner, MB, BS, pediatric cardiologist and electrophysiologist, the Sydney Children's Hospitals Network in Australia, told theheart.org | Medscape Cardiology.

"We know that children with conditions such as long QT syndrome or CPVT are at risk for dangerous arrhythmia during certain types of sporting or swimming activities this is well documented and well-established guidelines have been formulated," Turner noted.

"We think that there may be a similar mechanism occurring when children with these conditions become very excited during particular phases of gaming, and it appeared that the events we described occurred when the child was about to win the game," he said.

The report was published online September 19 in the Correspondence section of the New England Journal of Medicine.

All three children were male, ranging in age from 10 to 15 years.

Patient 1, age 10 years, suddenly lost conscious right after winning an electronic war game and spontaneously regained consciousness afterward.

He was subsequently diagnosed with CPVT after experiencing a cardiac arrest at school. Genetic testing revealed a variant (gene encoding ryanodine receptor 2 [RYR2]), which is "likely pathogenic" according to American College of Medical Genetics and Genomics criteria, the authors explain.

Patient 2, age 15 years, already had a history of a cardiac disorder (ie, d-transposition of the great arteries with ventricular septal defect), which was treated using the Rastelli procedure.

While sitting in bed and winning an electronic war game, he became presyncopal and was diagnosed with rapid monomorphic VT. After receiving successful cardioversion in the emergency department, he received an implantable cardioverter-defibrillator (ICD) and treatment with metoprolol. However, 2 months later, he again experienced an episode before he was about to win the same game. Cardioversion by the ICD was successful.

Patient 3, age 11 years, was "animatedly" playing an electronic war game with a friend when he began having palpitations followed by collapse, after which he regained consciousness spontaneously.

No information was available on the particular stage of play at the time of the collapse.

The patient's QT interval-corrected for heart rate was found to be 570 msec, and he was diagnosed with LQTS. Subsequently, several family members also received the same diagnosis, and two unexplained deaths were identified in the family. Genetic testing is currently underway.

"Whilst the exact mechanism for the triggering of arrhythmia is likely to be varied, given that each of these three children had different conditions, one common part of the pathway is likely related to the sympathetic nervous system and adrenergic stimulation," Turner explained.

"As cardiologists, we would like to see all children having physical activities and we know that regular physical activity is good for the child's heart and brain," he commented.

"This applies even to children with underlying heart rhythm conditions, such as long QT syndrome, and for a child with one of these conditions, it is important that the families discuss suitable sporting and physical activity with their cardiologist," he said.

Although certain types of syncope such as vasovagal syncope are common and generally benign, "any episode of syncope occurring in the middle of a sporting or physical activity could potentially be a 'red flag' and should be investigated," he emphasized.

Commenting on the study for theheart.org | Medscape Cardiology, Maully Shah, MBBS, director of cardiac electrophysiology at the Children's Hospital of Philadelphia, noted that scientific guidelines "have been formulated to modify or restrict certain levels of physical activity, including swimming, in individuals with genetic diseases such as long QT syndrome and CPVT because these triggers were well documented."

This "recent report alerts us to the possibility of another trigger excitement associated with video gaming that may also provoke dangerous arrhythmias in a small subset of patients with these conditions," said Shah, who is also a professor of pediatrics, Perelman School of Medicine, University of Pennsylvania, and was not involved with the study.

So the "take-home message for practicing clinicians is to recognize that nonphysical activity may also induce adrenalin surges that can trigger life-threatening arrhythmias in a small subset of patients with certain cardiac conditions," added Shah, who is president of the Pediatric and Congenital Electrophysiology Society (PACES).

Turner added, "When a child with a condition such as long QT syndrome or CPVT is diagnosed, very effective treatment is readily available and is able to prevent further dangerous episodes."

Turner, his coauthors, and Shah have disclosed no relevant financial relationships.

N Engl J Med. 2019;381:1180-81. Article

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Continue reading here:
Can Video Gaming Trigger Dangerous Arrhythmias? - Medscape

Recommendation and review posted by Bethany Smith

CHICAGO (CBS) Two boys were born through a sperm donor, both were diagnosed with autism, and their mother eventually went on to learn something shocking.

The sperm donor is now linked to even more children with autism and other disabilities.

In her first TV interview, the childrens mother spoke to CBS 2s Suzanne Le Mignot about her plea for change.

Danielle Rizzos face lights up when she talks about her two boys. She calls them my life.

Ive always wanted children, and I do everything for and with my kids, she said.

Rizzo gave birth to her first son in September of 2011 through a sperm donor, known as Donor H898. Fourteen months later, her second son was born, using the same sperm, from Idant Laboratories in New York City.

The donors medical history it was clean, Rizzo said.

About a year after her first sons birth, she saw changes in his behavior.

I started to notice him stop looking at me in my eyes; stop waving Hi, and Bye, Rizzo said.

Her son was diagnosed with autism. Then, her second son received the same diagnosis.

Determined to get therapy for her children, Rizzo searched the internet. She was shocked when she found information linking Donor H898 to at least a dozen cases around the world where children were born with autism or other disabilities.

Rizzo found at least four sperm banks were selling the donors sperm.

Now that theres this donors sperm at so many sperm banks, who knows how many children are out there? she said.

She also learned from other mothers that the donor himself did not speak until after age 3.

I learned he was diagnosed with ADHD, Rizzo said.

Rizzo spent a year calling every sperm bank.

None of them would do anything, she said.

Rizzo did more research. She found a geneticist who would listen.

This seemed like the perfect experiment to study autism in genes, Rizzo said.

She is now working to get more families who used the same donor to give DNA or saliva samples for research. Rizzo also wants to see genetic testing become mandatory at all sperm banks.

There really needs to be regulation and oversight in this industry and thats why Im coming forward, Rizzo said. This needs to change.

The Food and Drug Administration requires donor sperm to be tested for sexually-transmitted diseases. Some sperm banks also do genetic testing.

Rizzo sued Idant Laboratories and accepted a judgment. Idant went out of business.

CBS 2s Le Mignot called Idants parent company and had not heard back as of early Wednesday evening.

Those interested in the study being done for the families who received sperm from donor H898 can go to this website, DonorSiblingRegistry.com.

A friend of Rizzos has also set up a GoFundMe page to defray the costs of therapy for her boys.

Read more from the original source:
Single Sperm Donor Linked To Numerous Children With Autism, Other Disabilities - CBS Chicago

Recommendation and review posted by Bethany Smith

Between 2001 and 2011, Indias elderly population increased from 70 million to 104 million (Census estimates). In 2011, the population over 60 years of age comprised 8.6% of the total population. With falling population growth rates this share is only expected to increase further in the coming decades. As the population ages, the burden of geriatric diseases will start to feel heavier. Of all the geriatric diseases, India is perhaps most underprepared to tackle the burden of degenerative diseases like dementia (memory loss). This is due to a lack of awareness compounded by a dearth of specialists in geriatric diseases.

Alzheimers Disease is the most common form of dementia characterised by progressive degeneration of cognitive abilities. Its symptoms range from forgetfulness in its early stages to loss of speech and immobility in its late stages. However, Alzheimers differs from other geriatric diseases in that its early symptoms are often confused with that of old age and its onset is often missed. According to the Dementia India Report 2010 by the Alzheimers and Related Disorders Society of India (ARDSI), there were around 3.7 million Indians with dementia in 2010 with the number projected to rise to 7.6 million by 2030. A general awareness about Alzheimers Disease remains low throughout the country and even lower in rural and underdeveloped areas. There is an urgent need to increase awareness about dementia in general, and about the early symptoms of Alzheimers Disease in particular. Family members and primary care physicians are best placed to recognise these early symptoms and hence, a national awareness campaign targeted towards them is likely to have the most effect.

Even within the field of medicine, research in dementia and related diseases remain low. Most of our existing knowledge and estimates of the incidence of dementia come from small regional case studies. Similar to the burden of other non-communicable diseases, there is likely to be considerable heterogeneity across the states in the prevalence of dementia brought about by lifestyle and food habits. A thorough pan-India investigation into the current incidence and burden of dementia and Alzheimers is the need of the hour. There is also a need to provide genetic testing services for the Alzheimers gene (APOE-e4) and fund clinical trials. For a disease like Alzheimers, whose risk-factors are genetic, lifestyle, and environmental, we need to conduct clinical trials specific to India and not rely on those conducted in developed countries. Better knowledge of risk-factors is likely to influence patients and family-members to seek healthcare early and allow physicians to detect dementia early.

Alzheimers Disease imposes both economic and non-economic costs beyond that on the patient as family members still provide the bulk of the caregiving. The ARDSI 2010 report estimated the total societal costs from dementia to be 147 billion INR in 2010 with a projected threefold increase by 2030. In addition to direct cost of treatment e.g. cost of medication and physicians, the bulk of these economic costs stem from informal care through loss of wages and income through absenteeism from work or withdrawal from labour force by family members. Long-term care also imposes a psychological toll on the caregiver. In the absence of reliable formal care facilities, the burden of care is borne disproportionately by women. Thus, there exists an untapped market for reliable institutional care both short-term and long-term care for Alzheimers Disease patients. The establishment of care centres will transfer the burden from the family members to trained professionals as well as lead to job-creation. This would obviously require substantial investment up-front on training healthcare workers to recognise and cater to the needs of dementia patients. The National Program for Health Care of the Elderly under the Ministry of Health and Family Welfare aims to bridge some of the gaps in the landscape of geriatric care in India through the setting up of Regional Geriatric Care Centres. However, a focus on dementia and Alzheimers Disease is missing. Currently this gap is being filled by NGOs such as ARDSI who provide certification courses on dementia care. With an increasingly aging population, investments made in training healthcare professionals is likely to pay for itself as demand for these services is only going to increase.

If India is to stay ahead of the curve and prepare for the needs of an aging population, a clearly defined public health strategy with a significant focus on research into degenerative diseases and investment in the training of healthcare personnel is much needed.

Original post:
The persistence of memory: The burden of Alzheimers Disease in India - Brookings Institution

Recommendation and review posted by Bethany Smith

Breast Cancer Predictive Genetic Testing Market Insights 2018, is a professional and in-depth study on the current state of the global Breast Cancer Predictive Genetic Testing industry with a focus on the Global market. The report provides key statistics on the market status of the Breast Cancer Predictive Genetic Testing manufacturers and is a valuable source of guidance and direction for companies and individuals interested in the industry. Overall, the report provides an in-depth insight of 2018-2025 global Breast Cancer Predictive Genetic Testing market covering all important parameters.

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RocheThermo Fisher ScientificPerkinElmerQuest DiagnosticsMyriad GeneticsIverson GeneticsCancer GeneticsOncoCyte CorporationNeoGenomicsInvitae

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Market size by RegionNorth AmericaUnited StatesCanadaMexicoAsia-PacificChinaIndiaJapanSouth KoreaAustraliaIndonesiaSingaporeMalaysiaPhilippinesThailandVietnamEuropeGermanyFranceUKItalySpainRussiaCentral & South AmericaBrazilRest of Central & South AmericaMiddle East & AfricaGCC CountriesTurkeyEgyptSouth Africa

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Breast Cancer Predictive Genetic Testing Market 2025: Research By Top Manufacturers with Market Size,Market Growth, Competitive Regions with...

Recommendation and review posted by Bethany Smith

SALT LAKE CITY When 7-year-old Ian Dahl was diagnosed with cancer in 1994, his parents thought he was going to die.

They were given three options for treatment, none of them certain to work, recalls Hilary Saunders, a nurse practitioner at Intermountain Healthcares Primary Childrens Hospital oncology unit. For acute myeloid leukemia, the type of cancer Dahl had, she said, no one was sure what would happen.

At that time, the success rate for treating AML was 20% or less, and that was generous, in my opinion, Saunders said.

On Nov. 11 of that year, the young boy was given a bone marrow transplant using cells harvested from his dad, the closest available match at the time and Dahls only chance for survival.

Not a day goes by when I dont think, None of this was really supposed to happen for me. ... My life, my kids, I really appreciate all the little things a lot more, Dahl, 32, of Sandy, said Thursday during a celebration of 25 years of bone marrow transplants at Primary Childrens Hospital.

He was the hospitals 17th bone marrow transplant, and the fourth who survived.

Its the start of a new you, Saunders said about a patient who gets new bone marrow, where the blood cells are produced. The old marrow is deteriorated by the cancer and new marrow makes life possible. Its a whole new immune system so your body can fight. It gives you a new outlook on life, she said.

It gives you a chance to be healthy, Dr. Michael Boyers, medical director of the pediatric blood and marrow transplant program at Primary Childrens Hospital, said Thursday. He said bone marrow transplant is a tough treatment.

In 25 years, doctors at Primary Childrens have performed more than 700 bone marrow transplants, including for cancer patients, but also certain blood-related disorders. The patients came to the hospital from 13 states and four countries.

Doctors have done 43 of the procedures this year, Boyers said.

Ten years ago, he said, bone marrow transplants were proven to cut the death rate in half for cancer patients.

It has evolved a lot, Boyers said.

Dahl doesnt remember much about his lengthy stays in the hospital as a kid, but he will never forget the bad taste of the cyclosporine he was given to combat side effects of chemotherapy, the friendly hospital staff and all the activities he was able to do in the unit, as well as what it was like to be treated like he was special.

Ian is all around, a very special patient, Saunders said, because he was one of the first to undergo the procedure, but also because Dahls family has kept in touch with the doctors and nurses who worked to save his life.

Its been fun to see him grow up. I love seeing that Ian has children, which is another thing about him that is beyond amazing, she said, adding that cancer treatments often preclude bearing children. He has always held a special place in my heart.

Dahl inherited an allergy to cats after the transplant, as his dad was allergic but Dahl wasnt prior to the procedure. He sometimes has issues with eczema, akin to his dad. But looking at him, no one would know he survived cancer as a child, using bone marrow from a family member.

Dahls father has since joined the official Bone Marrow Registry, operated by the nonprofit National Marrow Donor Program, and has had the opportunity to donate his bone marrow multiple times. Dahl said the experience has enriched the lives of everyone in his family.

It was a huge miracle for our family, he said.

Its important that everybody register, Saunders said. Its a beautiful thing to save the life of an adult or child.

The younger the better when it comes to bone marrow donors, Boyers said, as there is less pain resulting from the procedure and a quicker recovery. However, donors of all ages are needed, as well as people from various ethnic backgrounds, specifically Hispanic, Asian or Native American, he said.

Sometimes people are on the registry for years waiting to be called, Boyers said. About one in 430 registrants end up donating to a patient, as they must meet age and health guidelines and be willing to donate to any patient in need. Donors between the ages of 18 and 44 are always needed.

At the time of Dahls procedure, the national registry was quite small. Finding a match was more difficult. His dad met five of six qualifications, whereas his mother and sister each met three of six not enough to be viable.

Siblings, Boyers said, have a one in four chance of being a good match for transplantation, so the larger the registry, the better the odds are of finding a better match. Patients who share the same ancestry are most likely to match.

Be the Match, the worlds largest and most diverse registry, has nearly 35 million registrants. Healthy bone marrow, as it has for Dahl, can be the the cure for someone facing life-threatening disease.

All it takes to register as a bone marrow donor is a cotton swab collection of DNA from the mouth. A person can donate stem cells and/or marrow. For more information, visit bethematch.org.

See the original post here:
Bone marrow patient returns to celebrate 25 years of success at Primary Children's Hospital - KSL.com

Recommendation and review posted by Bethany Smith

T cells in the bone marrow of patients with acute myeloid leukemia (AML) over-express PD-1 leading to anti-tumor activity,1but checkpoint inhibitors have been shown to overcome this in mouse models.2 Cytarabine is known to suppress the expression of PD-1 allowing cytotoxic T lymphocytes (CTLs) to attack AML cells more efficiently, while idarubicin causes the release of antigens which prime CTLs to further promote anti-tumor activity. The combination of both idarubicin and cytarabine has resulted in remission rates of 80%, but despite this high initial response, only 3050% of patients with AML are disease-free long-term2. Alterations of dosing and treatment schedules of this standard induction method have had a limited effect on this outcome.

Professor Farhad Ravandi, The University of Texas MD Anderson Cancer Center, Houston, TX, US, and colleagues conducted a phase II trial to assess nivolumab in combination with idarubicin and cytarabine as a frontline treatment for patients with newly diagnosed AML. They hypothesised that the addition of a further anti-PD-1 agent may improve remission duration by enhancing the anti-tumor activity of CTLs2. Professor Ravandi previously presented this data at the 59th American Society of Hematology (ASH) Annual Meeting and Exposition in 2017 in Atlanta (our interview with him can be found here).

In this single-arm phase II part of the phase I/II study (NCT02464657), 44 patients aged 1860 years (>60 years if eligible for intensive chemotherapy) with newly diagnosed AML (n=42) or high-risk myelodysplastic syndrome (n=2) who had an Eastern Cooperative Oncology Group Performance (ECOG) status of 02 were eligible for inclusion induction treatment.

Induction treatment included a 1.5g/m2, 24-hour infusion of cytarabine daily on Days 14 (three days only for patients >60 years), alongside 12mg/m2 daily on days 13 of idarubicin. Nivolumab was then given on Day 24 at a dose of 3mg/kg which was repeated every two weeks for a year in responders. Initially, a run-in phase was performed with patients with relapsed AML (n=3) who received 1mg/kg nivolumab with idarubicin and cytarabine and no toxicity was observed.

Responders were given consolidation cycles of attenuated doses of idarubicin and cytarabine (up to five) or allogeneic hematopoietic stem cell transplantation (allo-HSCT). The primary endpoint was event-free survival (EFS), with relapse-free survival (RFS) and overall survival (OS) as secondary outcomes. The trial would have stopped if the median EFS was less than seven months or if there was significant toxicity associated with nivolumab use (>10%) at one year.

Grade 12

n (%)

Grade 3

n (%)

Grade 4

n (%)

Nausea

1 (2)

1 (2)

0

Diarrhea

3 (7)

7 (16)

0

Mucositis or stomatitis

1 (2)

0

0

Muscle weakness

0

1 (2)

0

Syncope

0

1 (2)

0

Elevated transaminases

3 (5)

1 (2)

0

Elevated bilirubin

0

1 (2)

0

Febrile Neutropenia

1 (2)

13 (30)

1 (2)

Rash

1 (2)

2 (5)

0

Pneumonitis

1 (2)

0

0

Colitis

1 (2)

1 (2)

1 (2)

Pancreatitis

1 (2)

1 (2)

0

Cholecystitis

0

1 (2)

0

Small bowel obstruction

0

1 (2)

0

Thrombosis or embolism

1 (2)

0

0

Despite a small sample size, short follow-up and a lack of comparator population, the study demonstrates that the use of nivolumab alongside idarubicin and cytarabine as an intensified induction therapy in patients with AML (including those over 60 years old) is safe and feasible. Patients undergoing subsequent allo-HSCT showed promising responses and no increase in complications such as severe GvHD. Whether this combination produces similar outcomes compared to standard induction therapy with or without allo-HSCT needs to be confirmed in larger, randomized trials.

Link:
Nivolumab as an addition to frontline therapy of AML in younger patients - AML Global Portal

Recommendation and review posted by Bethany Smith

Stem cells are found in all human beings, from the initial stages of human growth to the end of life. All stem cells are beneficial for medical research; however, each of the different kinds of stem cells has both limitations and promise. Embryonic stem cells that can be obtained from a very initial stage in human development have the prospect to develop all of the cell types in the human body. Adult stem cells are found in definite tissues in fully developed humans. Stem cells are basic cells of all multicellular animals having the ability to differentiate into a wide range of adult cells. Totipotency and self-renewal are characteristics of stem cells. However, totipotency is seen in very early embryonic stem cells. The adult stem cells owes multipotency and difference flexibility which can be exploited for next generation therapeutic options. Recently, scientists have also recognized stem cells in the placenta and umbilical cord blood that can give rise to several types of blood cells. Research for stem cells is being undertaken with the expectation of achieving major medical inventions. Scientists are attempting to develop therapies that replace or rebuild spoiled cells with the tissues generated from stem cells and offer hope to people suffering from diabetes, cancer, spinal-cord injuries, cardiovascular disease, and many other disorders.

The stem cell therapy market is segmented on the basis of type, therapeutic applications, cell source, and geography. On the basis of type, the stem cell therapy market is categorized into allogeneic stem cell therapy and autologous stem cell therapy. Allogeneic stem cell therapy includes transferring the stem cells from a healthy person (the donor) to the patients body through high-intensity radiation or chemotherapy. Allogeneic stem cell therapy is used to treat patients who do not respond fully to treatment, who have high risk of relapse, and relapse after prior successful treatment. Autologous stem cell therapy is a type of therapy that uses the person's own stem cells. These type of cells are collected earlier and returned in future. The use of stem cells is done to replace damaged cells by high doses of chemotherapy, and to treat the person's underlying disease. On the basis of therapeutic applications, the stem cell therapy market is segmented into cardiovascular diseases, wounds and injuries, musculoskeletal disorders, gastrointestinal diseases, surgeries, neurodegenerative disorders, and others. On the basis of cell source, stem cells therapy is segmented into bone marrow-derived mesenchyme stem cells, adipose tissue-derived mesenchyme stem cells, and cord blood or embryonic stem cells

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By geography, the market for stem cell therapy is segmented into North America, Europe, Asia Pacific, Latin America, and Middle East & Africa. North America leads the stem cell therapy market owing to rising awareness among people, early treatment adoption, and new product innovations. Europe is the second leading market for stem cell therapy due to development and expansion of more efficient and advanced technologies. The Asia Pacific stem cell therapy market is also anticipated to grow at an increasing rate owing to increasing healthcare spending, adoption of western lifestyles, and growth in research and development. Asia Pacific is the fastest growing region for stem cell therapy as several players have invested in the development of new stem cell technologies. These factors are expected to drive the growth of the stem cell therapy market globally during the forecast period.

The major player in the stem cell therapy market are Regenexx, Takara Bio Company, Genea Biocells, PromoCell GmbH, CellGenix GmbH, Cellular Engineering Technologies, BIOTIME, INC., Astellas Pharma US, Inc., AlloSource, RTI Surgical, Inc., NuVasive, Inc., JCR Pharmaceuticals Co., Ltd., Holostem Terapie Avanzate S.r.l., PHARMICELL Co., Ltd, ANTEROGEN.CO., LTD., The Future of Biotechnology, and Osiris Therapeutics, Inc. Rising demand for advanced stem cell therapies will increase the competition between players in the stem cell therapy market.

The report offers a comprehensive evaluation of the market. It does so via in-depth qualitative insights, historical data, and verifiable projections about market size. The projections featured in the report have been derived using proven research methodologies and assumptions. By doing so, the research report serves as a repository of analysis and information for every facet of the market, including but not limited to: Regional markets, technology, types, and applications.

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The study is a source of reliable data on:Market segments and sub-segmentsMarket trends and dynamicsSupply and demandMarket sizeCurrent trends/opportunities/challengesCompetitive landscapeTechnological breakthroughsValue chain and stakeholder analysis

The regional analysis covers:North America (U.S. and Canada)Latin America (Mexico, Brazil, Peru, Chile, and others)Western Europe (Germany, U.K., France, Spain, Italy, Nordic countries, Belgium, Netherlands, and Luxembourg)Eastern Europe (Poland and Russia)Asia Pacific (China, India, Japan, ASEAN, Australia, and New Zealand)Middle East and Africa (GCC, Southern Africa, and North Africa)

The report has been compiled through extensive primary research (through interviews, surveys, and observations of seasoned analysts) and secondary research (which entails reputable paid sources, trade journals, and industry body databases). The report also features a complete qualitative and quantitative assessment by analyzing data gathered from industry analysts and market participants across key points in the industrys value chain.

A separate analysis of prevailing trends in the parent market, macro- and micro-economic indicators, and regulations and mandates is included under the purview of the study. By doing so, the report projects the attractiveness of each major segment over the forecast period.

Highlights of the report:A complete backdrop analysis, which includes an assessment of the parent marketImportant changes in market dynamicsMarket segmentation up to the second or third levelHistorical, current, and projected size of the market from the standpoint of both value and volumeReporting and evaluation of recent industry developmentsMarket shares and strategies of key playersEmerging niche segments and regional marketsAn objective assessment of the trajectory of the marketRecommendations to companies for strengthening their foothold in the market

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Read more from the original source:
Stem Cell Therapy Market Foraying into Emerging Economies 2017-2025 - Techdadz

Recommendation and review posted by Bethany Smith

GENES are the building blocks of life but like all things, they can sometimes go wrong, resulting in a range of conditions and diseases.

Repairing or replacing these genes with good ones, however, could solve or at the very least treat the problem, and this is what the emerging science of gene therapy is all about.

It was first suggested in the early-1970s that using good DNA (genes are short sections of DNA) to replace defective DNA could treat inherited diseases, and since then scientists have been trying to work out how to do it, both for inherited conditions and many others.

The British Society for Gene and Cell Therapy (bsgct.org) says the first approved human gene therapy took place in 1990, on four-year-old Ashanti DeSilva who had ADA-SCID an inherited disease that prevents normal development of the immune system. The therapy made a huge difference, meaning the little girl no longer needed to be kept in isolation and could go to school.

When the human genome was mapped nearly 20 years ago, the notion that it could potentially unlock therapies capable of fixing genes responsible for some of the worlds most devastating diseases was an idea of the future, says gene therapy expert Professor Bobby Gaspar, speaking on behalf of Jeans for Genes Day, the annual campaign for Genetic Disorders UK (geneticdisordersuk.org).

We are at the forefront of a new era of treatment for genetic diseases using gene and cell therapies. Some of these are one-time, potentially curative investigational therapies that could provide life-changing benefits to patients and their families.

Gaspar says there are currently more than 10 cell and gene therapy products approved in the European Union, ranging from products that treat cancer to rare immune deficiencies. A number of these are approved in the UK and available on its National Health Service in specialised centres.

And with nearly 3,000 clinical gene therapy trials underway worldwide, the number of available treatments is expected to grow significantly over the next few years.

Here, Gaspar a professor of paediatrics and immunology at the UCL Great Ormond Street Institute of Child Health and chief scientific officer at Orchard Therapeutics, a gene therapy company that seeks to permanently correct rare, often-fatal diseases outlines five of the ways gene therapy can cure, stop, or slow a disease...

A variety of efforts are underway to use gene therapy to treat cancer. Some types of gene therapy aim to boost the bodys immune cells to attack cancer cells, while others are designed to attack the cancer cells directly.

One way the body protects itself from cancer is through T-cells, a main component of the immune system. But some cancers are good at avoiding these protection mechanisms, says Gaspar.

Chimeric antigen receptor, or CAR T-cell therapy, is a new form of immunotherapy that uses specially altered T-cells to more specifically target cancer cells.

Some of the patients T-cells are collected from their blood, then genetically modified to produce special CAR proteins on the surface.

When these CAR T-cells are reinfused into the patient, the new receptors help the T-cells identify and attack cancer cells specifically and kill them.

There are more than 250 genetic mutations that can lead to a type of blindness called inherited retinal diseases, or IRD. People with a defect in the RPE65 gene start losing their vision in childhood.

As the disease progresses, patients experience gradual loss of peripheral and central vision, which can eventually lead to blindness.

Gene therapy for some IRD patients became available in 2017, delivering a normal copy of the RPE65 gene directly to the retinal cells at the back of the eye using a naturally-occurring virus as a delivery vehicle.

For children with the genetic disorder spinal muscular atrophy, or SMA, a rare muscular dystrophy, motor nerve cells in the spinal cord are damaged, causing patients to lose muscle strength and the ability to walk, eat or even breathe, says Gaspar.

SMA is caused by a mutation in a gene called SMN which is critical to the function of the nerves that control muscle movement. Without this gene, those nerve cells cant properly function and eventually die, leading to debilitating and often fatal muscle weakness.

Researchers recently developed the first US-approved gene therapy to treat children less than two years of age with SMA.

The therapy is designed to target the cause of SMA by replacing the missing or nonworking gene with a new, working copy of a human SMN gene, helping motor neuron cells work properly.

Researchers believe targeted gene therapy and gene editing may have widespread application for a range of infectious diseases that arent amenable to standard clinical management, including HIV.

Although HIV isnt a hereditary disease, the virus does live and replicate in DNA, Gaspar explains.

Another early but encouraging approach uses a gene editing technology combined with a new long-acting, antiretroviral treatment to suppress HIV replication and eliminate HIV from cells and organs of infected animals.

Gene editing is an approach that precisely and efficiently modifies the DNA within a cell. In this approach, gene editing can knock out a receptor called CCR5 on immune cells used by HIV to enter and invade cells. Without CCR5, HIV may no longer invade and cause disease.

One approach being investigated for a number of rare, often-fatal diseases uses gene-modified blood stem cells with a goal of permanently correcting the underlying cause of disease.

Blood stem cells are taken from the patient, and corrected outside the body by introducing a working copy of the gene into the cells. The gene-corrected cells are then put back into the patient to potentially cure the disease.

Gene-modified blood stem cells have the capacity to self-renew and, once taken up in the bone marrow, can potentially provide a lifelong supply of corrected cells. Because of their ability to become many different types of cells in the body, this approach has the potential to provide a lasting treatment for many different severe and often life-limiting inherited disorders, many of which have no approved treatment options available, says Gaspar.

For instance, ADA-SCID, sometimes referred to as bubble baby syndrome, is a disease where babies lack almost all immune protection, leading to frequent and devastating infections. Left untreated, babies rarely live past two years of age. Standard treatment options are not always effective or can carry significant risks. In 2016, the European Medicines Agency approved Strimvelis, a blood stem cell gene therapy for the treatment of ADA-SCID. Strimvelis was the first approved ex vivo gene therapy product in Europe.

Jeans for Genes Day helped fund some of the earliest work using this type of gene therapy at Great Ormond Street Hospital in 2002, when Rhys Evans, a little boy with SCID, became one of the first children worldwide to be treated by gene therapy.

Jeans for Genes Day aims to raise money for children with life-altering genetic disorders by asking people to donate money for wearing jeans to work, school or wherever they like, on any day between September 16-20. Visit jeansforgenesday.org.

More:
Five benefits of gene therapies - Echo Live

Recommendation and review posted by Bethany Smith

Hypogonadism is defined as hormonal disorder in which the glands (gonads & ovaries) produce little or no hormones causing its deficiency in the body. Hypogonadism in males refers to deficiency of testosterone due to dysfunction of either of the testes. Female hypogonadism refers to deficiency of estrogen or progesterone due to reduced activity of the ovaries. Hypogonadism is classified into two types: primary hypogonadism (testicular failure) and central hypogonadism (hypothalamic-pituitary axis dysfunction). Other major causes of hypogonadism include autoimmune disorder, genetic disorder, severe infections, and liver and kidney diseases. Generally, hormone and imaging tests are used to diagnose hypogonadism.

According to the Boston University School of Medicine, around 4 million to 5 million men in the U.S. were affected with hypogonadism in 2003. The incidence of hypogonadism in men aged between 40 years and 69 years in the country is around 481,000 new cases per year. According to the European Male Aging Study, the prevalence of late onset hypogonadism in men aged between 40 and 79 was 2.1% in 2016. Studies suggest that hypogonadism in adult men is often underdiagnosed and undertreated and only 5%. According to the Urology Care Foundation, hypogonadism is a chronic condition which would require lifelong treatment. The treatment for hypogonadism depends on the cause and concern about fertility and includes treatment such as hormone replacement therapy or assisted reproduction.

Men with heart disease, HIV, COPD, or renal disease have high prevalence of hypogonadism. Factors such as rising prevalence of type 2 diabetes and obesity further increase the incidence of hypogonadism. Growth of the global hypogonadism treatment market is attributed to rise in geriatric population, increase in infertility, and improved diagnosis. However, growing concerns about the potential side effects, availability of generic drugs, and preference for other natural hormonal boosters and supplements are likely to hamper the growth of the hypogonadism treatment market. Increasing awareness, awaiting approvals for new generation drugs in pipeline, and technological advancements present significant opportunities in the hypogonadism treatment market.

The primary treatment option for hypogonadism is hormone replacement therapy. Based on product type, the market has been classified into testosterone replacement therapy, estrogen therapy, and progesterone therapy. Testosterone replacement therapy is the fastest growing segment as hypogonadism is more prevalent in men. The segment is expected to hold major share of the global market during the forecast period.

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In terms of mode of administration, the hypogonadism treatment market has been broadly classified into transdermal patch, topical gel, buccal tablets, implantable pellet, intramuscular injections, and oral tablets. Transdermal patch followed by topical gels are anticipated to be the fastest growing segments as these provide steady route of administration and are easily modifiable over a short period of time. The oral and buccal tablets segments are anticipated to experience sluggish growth during the forecast period due to high side effects and liver diseases.

Based on the distribution channel they are segmented into hospital pharmacies, retail pharmacies and others. The major market share for the hypogonadism treatment market is for the retail pharmacies segment and is anticipated to rule the market during the forecast period as continuous long term treatment is required for the hypogonadism patient.

In terms of region, the global hypogonadism treatment market has been segmented into North America, Europe, Asia Pacific, Latin America, and Middle East & Africa. North America is the largest market for hypogonadism treatment, accounting for more than half of the market share due to the factors such as increased adoption of newer highly advanced products, rising awareness about hormonal disorder including various treatment options available, and advancing health care infrastructure. However, Asia Pacific is anticipated to be the fastest growing market during the forecast period due to increasing urbanization and rise in the patient population.

Key players in the global hypogonadism treatment market are Bayer AG, Abbott Laboratories, Inc., Merck Serono, Sanofi, Merck & Co., Inc., Actavis, Inc., AbbVie Inc., AstraZeneca plc, Teva Pharmaceutical Industries Ltd., Endo International plc, Ferring Holding S.A., and Laboratoires Genevrier.

The report offers a comprehensive evaluation of the market. It does so via in-depth qualitative insights, historical data, and verifiable projections about market size. The projections featured in the report have been derived using proven research methodologies and assumptions. By doing so, the research report serves as a repository of analysis and information for every facet of the market, including but not limited to: Regional markets, technology, types, and applications.

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The study is a source of reliable data on: Market segments and sub-segments Market trends and dynamics Supply and demand Market size Current trends/opportunities/challenges Competitive landscape Technological breakthroughs Value chain and stakeholder analysis

The regional analysis covers: North America (U.S. and Canada) Latin America (Mexico, Brazil, Peru, Chile, and others) Western Europe (Germany, U.K., France, Spain, Italy, Nordic countries, Belgium, Netherlands, and Luxembourg) Eastern Europe (Poland and Russia) Asia Pacific (China, India, Japan, ASEAN, Australia, and New Zealand) Middle East and Africa (GCC, Southern Africa, and North Africa)

The report has been compiled through extensive primary research (through interviews, surveys, and observations of seasoned analysts) and secondary research (which entails reputable paid sources, trade journals, and industry body databases). The report also features a complete qualitative and quantitative assessment by analyzing data gathered from industry analysts and market participants across key points in the industrys value chain.

A separate analysis of prevailing trends in the parent market, macro- and micro-economic indicators, and regulations and mandates is included under the purview of the study. By doing so, the report projects the attractiveness of each major segment over the forecast period.

Highlights of the report: A complete backdrop analysis, which includes an assessment of the parent market Important changes in market dynamics Market segmentation up to the second or third level Historical, current, and projected size of the market from the standpoint of both value and volume Reporting and evaluation of recent industry developments Market shares and strategies of key players Emerging niche segments and regional markets An objective assessment of the trajectory of the market Recommendations to companies for strengthening their foothold in the market

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See the rest here:
Hypogonadism Treatment Market : Opportunities, Demand and Forecasts, 2017-2025 - Rapid News Network

Recommendation and review posted by Bethany Smith

Male hypogonadism is a condition in males wherein the testes depict a significantly reduced functioning level than normal. Reduction in rate of biosynthesis of the male sex hormones consequently results into male hypogonadism, which can vary in terms of severity among individuals. Partial or complete infertility are among major end-results entailing male hypogonadism, which in turn have created the need for effective treatment. XploreMR has published a new comprehensive research report titled, Male Hypogonadism Market: Global Industry Analysis (2012-2016) and Forecast (2017-2026). The report covers present market scenario as well as imparts future growth prospects of the male hypogonadism market for the period between 2017 and 2026. The report also engulfs key drivers, hindrances, opportunities and trends that are affecting expansion of the global male hypogonadism market. The report offers an overall picture of the global male hypogonadism market, in order to help businesses seeking opportunities for making investments in the market.

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Structure of the Report

The report provides an exhaustive synopsis of the global male hypogonadism market, engulfing an executive summary that elucidates the core trends influencing the market expansion. This chapter also sheds light on impacts that the dynamics are likely to pose on growth of the market in the long run. The report also imparts figures appertaining to CAGRs from a historical and forecast point of view. An overview of the global male hypogonadism market follows the executive summary, and issues a clear picture of the markets scope to the report readers. The overview includes a concise market introduction succeeded by a formal definition of male hypogonadism. Chapters subsequent to the overview elaborates several dynamics including driving factors, limitations and prospects being observed in the market through the forecast period. Meanwhile these chapter also inundate detailed insights related to the bottom line of enterprises, global economy and fiscal stimulus.

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Competition Landscape

This analytical research report on the global male hypogonadism market is a complete package, which includes intelligence on key participants underpinning the market expansion. In the last chapter of the report, which elucidates the competitive scenario of the market, strategies implemented by the market players, along with their product overview, company overview, key financials, key developments and SWOT analysis has been rendered exhaustively. In addition, region-wide spread of these market players, their future expansion plans, market shares, revenues, and mergers & acquisition activities between them have been described in detail in this concluding chapter of the report. An intensity map has been employed in the report to profile the market players situated across geographies.

Research Methodology

Credibility of the researched statistics and data is backed by the unique research methodology employed by the analysts at XMR, which ensures higher accuracy. XMRs research report on the global male hypogonadism market can assist its readers in gaining detailed insights on many different aspects governing the market around key regional segments included in the report. The report readers can further slate key strategies for tapping into vital revenue pockets and gaining benefits over the intensifying competition in the market. Information presented in the report has been scrutinized and monitored thoroughly by XMRs industry experts. Figures and numbers offered in the report have also been validated by the analysts in order to facilitate strategic decision making for the report readers.

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Male Hypogonadism Market To Increase at Steady Growth Rate - Fortune Enterpriser

Recommendation and review posted by Bethany Smith