World Duchenne Awareness Day: Genethon at the forefront of the fight against Duchenne muscular dystrophy
World Duchenne Muscular Dystrophy Day provides an opportunity to note the acceleration in the development of innovative therapies for this neuromuscular disease, which is the most common in children. Gene therapy is one of the most promising avenues. Genethon, the AFM-Telethon laboratory, is currently developing a drug candidate which has demonstrated its efficacy in the first patients to be treated. Discover our video of patient testimonials !
35 years of commitment alongside families
Genethon, a non-profit research organization and world leader in gene therapies for rare diseases, marks World Duchenne Muscular Dystrophy Day on September 7, 2024, by reiterating its 35-year commitment to the families affected by Duchenne muscular dystrophy and its determination to offer patients a solution to overcome this fatal disease.
Duchenne muscular dystrophy is one of the most common childhood neuromuscular diseases. Nearly 250,000 people - mostly children - are affected worldwide, and all are waiting for the treatment that will change their lives.
A drug candidate which is showing efficacy in the first patients to be treated.
Today, gene therapy is the most promising therapeutic approach, because it tackles the origin of the disease, not just its symptoms. Genethon has developed a drug candidate combining a microdystrophin and an AAV8 vector, currently being evaluated in a gene therapy trial being conducted in France and the UK.
5 children aged between 6 and 9 were treated as part of this trial. For instance, Sacha, aged 8, was treated. See his parents' testimony :
Safety and pharmacodynamic results from the first patients, presented at the Myology2024 congress in Paris in April, showed good tolerance of Genethon drug candidate, as well as efficacy data, both in terms of microdystrophin expression and functional improvement. Indeed, children treated at the therapeutic dose improved their ability to walk, even run, climb stairs and stand up on their own, with or without support.
On the strength of the positive opinion of the IDMC (Independant Data monitoring comitte), Genethon will begin the final phase of evaluation of the drug candidate with the dose that demonstrated its efficacy in the first phase of the trial. This dose is lower than those used in all other gene therapy trials currently being conducted for Duchenne muscular dystrophy and lower than the gene therapy product approved by FDA. This represents a major advantage in terms of patient safety (limiting side-effects), ease of production, and treatment cost.
"After years of research, during which Duchenne muscular dystrophy has taken so many lives, hope is now tangible for families, and particularly for those whose young children are now diagnosed. Seeing children, who should inexorably lose their strength, making manifest progress* - running, climbing stairs one leg at a time - is an incredible emotion. The fight goes on, stronger than ever! " said Laurence Tiennot-Herment, President of AFM-Telethon (French neuromuscular dystrophy association) and mother of Charles-Henri, who died of Duchenne muscular dystrophy in 2003.
