LONDON In 2021, a team of Italian researchers reported that an experimental gene therapy they had developed seemed to be correcting the metabolic issues at the core of a rare genetic disease that left children unable to break down sugar molecules.

There remained an open question, however, about whether the therapy could address a particularly debilitating manifestation of the disease, the severe skeletal deformities it caused. Patients with the disease, called Hurler syndrome, suffer from short stature, spinal defects, and extremely stiff joints, complications that greatly limit their quality of life.

But in a new paper, the research team showed that the gene therapy, when delivered to toddlers, successfully staved off those problems for years. The children grew to heights within average norms, and had far more flexible shoulder, hip, and knee joints than untreated children, according to the study, published Wednesday in the journal Science Translational Medicine. Defects in the patients spines also stabilized.

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Experimental gene therapy seems to alleviate skeletal defects tied to rare inherited disease, study shows - STAT

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