Suffering from Duchenne muscular dystrophy, a neuromuscular disease that is now incurable, Benjamin, 10, is one of the ambassadors of Téléthon 2022. Genethon recently launched a gene therapy trial for this disease.
Benjamin is in kindergarten when he begins to lose strength. But the diagnosis falls later, at 6 years old: it is Duchenne muscular dystrophy. This neuromuscular disease affects 1 in 3300 little boys at birth. It is due to a dysfunction of the gene responsible for producing an essential protein for the proper functioning of the muscles: dystrophin. The disease results in progressive muscle weakness, leading to the short-term loss of walking and, later, the need for respiratory assistance. Damage to the heart muscle is life-threatening.
There is currently no cure for Duchenne muscular dystrophy, but real hope has risen thanks to the start of several gene therapy clinical trials around the world. Genethon obtained clinical trial authorization in France and in the United Kingdom in 2021 for a gene therapy product developed by Genethon, based on microdystrophin, a shorter but functional version of the protein deficient in myopathy of Duchenne.
For families, clinical trials represent immense hope. “There is a future for Benjamin, rejoices the father of the young boy. We arrive after 30 years of fighting, after 30 years during which families who knew nothing put a lot of things in place. We are not yet healed, but it is progressing.”
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