2024-11-29 10:15:00
Finaly a concrete hope for a cure for Duchenne muscular dystrophy, but gigantic funding is still needed to offer it on a larger scale: Telethon is “a crucial moment”while its 38th edition will be launched on Friday 29 November from 6.45pm until Saturday evening.
Presented by Sophie Davant, Nagui and Cyril Féraud, this edition is sponsored by the singer Mika. The ambassador is the young Sacha, 8 years old, who was diagnosed with Duchenne muscular dystrophy at the age of 2 and who is now being treated with gene therapy.
Packed with over 23,000 events and challenges across France, Telethon takes place a little earlier than usual, as the first weekend of december is dedicated to the reopening of Notre-Dame de Paris. Donations can be made in three forms: by calling 3637, during an event in the area or on Telethon.fr.
“Crucial moment”
This year is special, Serge Braun, scientific director of the French Association against Myopathy (AFM), explained to Agence France-Presse, as “We finally have a cure that could change the course of Duchenne muscular dystrophy, a disease previously thought to be incurable”. This rare disease, which destroys muscles and affects one boy in 3,000 in France, is the emblematic cause of Telethon: in 1958 it was at the origin of the creation of the AFM, the association that organizes the event to finance research on diseases genetics.
Five children aged between 6 and 10 have benefited from a pioneering drug which allowed them to rebuild their muscles, without significant side effects. Presented at two medical conferences,this treatment will be administered in the first quarter of 2025 to around sixty children in France,the United States and the United Kingdom,with the aim of marketing it in <
“We are at a crucial moment: as we have these great results in research on gene therapy for Duchenne muscular dystrophy,but also because the resources we need to continue this great adventure are considerable”explains Laurence Tiennot-herment,president of the AFM. The AFM-Téléthon also supports “about forty human studies concerning 33 different pathologies (…), but when we move on to human trials, we are talking about costs of tens or even hundreds of millions of euros”precise.
Another genetic disease for which research has led to a pioneering drug: spinal muscular atrophy, a “rather dramatic neuromuscular disease, because there is paralysis of the muscles and death of the child around the age of 1 and a half or 2 years”underlines Professor Didier Lacombe, coordinator of the newborn screening center of New Aquitaine.
Diagnosed a few days after birth, two one-year-old twins, Marley and Mylane, were able to benefit from it and today they are “in good health”according to the testimonies of their parents, one of the ambassador families of Telethon 2024. Until then, “we screened these children when they had symptoms, around 6-9 months, at that time we gave them injections but we arrived too late: we had bedridden children”Didier Lacombe exhibits.
“The idea is to identify spinal muscular atrophy from birth: we fought with the AFM-Téléthon to start this pilot program in France, we clashed with rather elaborate ethical and political debates, and we arrived there at the beginning of 2023 in two regions: the Grand-Est and the nouvelle-Aquitaine”reports. This pilot program, implemented in 81 maternity wards, allowed 11 children to be screened, eight of whom received gene therapy; the others could not be treated given the specific form of their disease.
“With just one injection – certainly expensive, but much less than long-term treatments – we should cure these children, it is indeed the first true miracle of genomic medicine”praises Didier Lacombe, calling for screening “generalized across the entire territory from 2025”. In France, around fifteen genetic diseases are detected at birth.
“it is indeed essential to implement specific policies for caregivers of people suffering from rare diseases”
Interview Between Time.news Editor and Serge Braun, Scientific Director of AFM
Time.news Editor: Good morning, Serge! It’s a pleasure to have you with us today. As we prepare for the 38th edition of the Telethon, can you tell us about the meaning of this year’s event, especially regarding Duchenne muscular dystrophy?
serge Braun: Good morning! Thank you for having me.This year’s Telethon is notably notable as we are on the brink of a breakthrough in treating Duchenne muscular dystrophy (DMD). For the first time, we have a gene therapy that shows real potential to change the course of this disease, which was long considered incurable.
Time.news Editor: That sounds groundbreaking! We have read about Sacha Villemin, an eight-year-old boy who is undergoing this new gene therapy. Can you explain how this therapy works and what it means for children like Sacha?
Serge Braun: Absolutely! Duchenne muscular dystrophy is caused by a mutation in the gene responsible for producing dystrophin, a protein that protects muscle fibers. The gene therapy replaces the faulty gene with a functional version, allowing the production of dystrophin and potentially restoring muscle function.For Sacha and others with DMD, this means not just hope, but a chance to regain muscle strength and improve their quality of life.
Time.news Editor: It’s remarkable to see such advancements in medical science! However, you mentioned that despite these advances, significant funding is still required for widespread access to this therapy. Can you elaborate on the funding needs and how Telethon plays a role in that?
Serge Braun: Funding is indeed a critical issue. While we have made strides in research and development, the costs of scaling up production of these therapies and ensuring they are accessible to all who need them are enormous. The Telethon, with its extensive network of events and dedicated participants, raises vital funds that support research projects and clinical trials. Every donation helps bring us closer to making these therapies a reality for children across France and beyond.
time.news Editor: That’s a powerful message, Serge. With more than 23,000 events happening this year, it seems like Telethon’s community engagement is stronger than ever. How do you think this sense of community impacts the fight against diseases like DMD?
Serge Braun: The sense of community generated by Telethon is invaluable. It not only raises funds but also raises awareness about Duchenne muscular dystrophy and othre genetic diseases. This engagement brings together families,researchers,and advocates,creating a unified force that drives scientific discovery and supports affected families. The collective effort gives strength to those facing these challenges and fosters a spirit of hope and resilience.
Time.news editor: It’s incredible how much impact a community can have. Lastly, as we look toward the future, what are your hopes for research into Duchenne muscular dystrophy in the coming years?
Serge Braun: My hope is that we continue to see advancements in gene therapy and that we can bring these breakthroughs to more patients. We also need to push for better policies and funding to ensure continued research and to make treatments available without barriers. If we succeed, we can fundamentally change the trajectory of DMD, transforming lives and offering freedom and mobility to children like Sacha.
Time.news Editor: Thank you so much, Serge, for sharing your insights. It’s clear that this year’s Telethon represents both hope and action in the fight against Duchenne muscular dystrophy. We appreciate your time and look forward to following the progress!
Serge Braun: Thank you! Let’s continue to spread the word and rally support for this vital cause. Together, we can make a difference.