Myotubular muscular dystrophy: trial results show efficacy on respiratory and motor function, but challenges remain

Yesterday, The Lancet Neurology published the clinical results of a gene therapy trial conducted by Astellas Gene Therapies, using a drug candidate developed at Genethon, in 24 children suffering from myotubular myopathy, a very severe muscle disease. This international trial, which is taking place in 6 investigating centres around the world, including I-Motion, the Institut de Myologie’s French paediatric clinical trials centre, has enabled the majority of the children treated to regain significant motor and respiratory capacities. 16 of them can now breathe without assistance, 12 can stand up unaided and 8 can walk. Severe side effects, which caused the death of 4 children, are currently being studied to understand their causes.

“At I-Motion, we had the opportunity to administer this innovative treatment to a patient in France in 2020. Its progress is reassuring, but as with all studies, we remain vigilant about follow-up” Andreea Seferian, Neuropediatrician at I-Motion Paediatric Clinical Trials Platform and trial investigator.

Jules benefited from this gene therapy treatment as part of this clinical trial, and was treated at I-motion.

Today, he who was a “prisoner of his body”, unable to move or breathe on his own, is making progress every day: he no longer needs respiratory assistance, walks, runs, rides a bike… Discover his story (in French).


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