Clare McLean

Gene therapy researcher Martin K. Childers with his family dog, Bella, who carries the gene for the disorder he studies.

Preclinical studies show that gene therapy can improve muscle strength in small- and large-animal models of a fatal congenital childhood disease know as X-linked myotubular myopathy.

The findings, appearing in the January 22, 2014 issue of Science Translational Medicine, also demonstrate the feasibility of future clinical trials of gene therapy for this devastating disease.

Watch a video by Brian Donohue on this study.

Researchers at the University of Washington, Gnthon in France, Boston Childrens Hospital, and Virginia Polytechnic Institute and State University in Blacksburg, Va., conducted the study.

The study was based on seminal work on local and systemic administration in a mouse model of the disease performed by Anna Buj-Bello, at Gnthon since 2009. The UWs Martin K. Childers, working with Buj-Bello and Beggs groups, tested gene therapy using an engineered adenovirus vector, created by Gnthon. The vector carries a replacement MTM1 gene.

They used two animal models: mice with an engineered MTM1 mutation and dogs carrying a naturally occurring MTM1 gene mutation. These mutant animals appear very weak with shortened lifespans, similar to patients with myotubular myopathy.

The scientists found that both mice and dogs responded to a single intravascular injection of an adenovirus vector engineered for gene replacement therapy, produced at Gnthon. The treated animals had robust improvement in muscle strength, corrected muscle structure at the microscopic level, and prolonged life. No toxic or immune response was observed in the dogs.

These results demonstrate the efficacy of gene replacement therapy for myotubular myopathy in animal models and pave the way to a clinical trial in patients.

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Gene therapy leads to robust improvements in animal model ...

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