This year’s Telethon, starting on November 29, marks a pivotal moment in medical research, celebrating 37 years of advancements that improve patient care. Significant progress has been made in treating Duchenne muscular dystrophy and spinal muscular atrophy, with promising gene therapies showing real potential. Despite the need for broader implementation, the support from the public is driving transformative treatments for both rare and common diseases, offering new hope to countless patients.
A Milestone for Medical Research: The 2023 Telethon
This year’s Telethon, set to commence on Friday, November 29, is heralded as a significant turning point in the realm of medical research and patient care. Celebrating 37 years since its inception, the charity event emphasizes the remarkable medical breakthroughs achieved over decades, aimed at enhancing the quality of life for patients. Many once-intractable diseases are now showing promising pathways to recovery. “Incurable diseases are becoming treatable, while others are making significant progress,” states Serge Braun, the scientific director of the Telethon, in an interview with TF1info.
Breakthroughs in Duchenne and Spinal Muscular Atrophy Treatments
This year, notable advancements have been made in the treatment of two pivotal conditions associated with the Telethon: Duchenne muscular dystrophy and spinal muscular atrophy. Eight-year-old Sacha, one of the faces of this edition, battles Duchenne muscular dystrophy. “Typically, this disease hinders walking before the age of 12, necessitates respiratory support by 20, and leads to a life expectancy of 20 to 40 years,” explains Serge Braun.
Two years ago, Sacha participated in a clinical trial for a gene therapy treatment developed by the Telethon laboratory. “At that point, he struggled with climbing stairs and frequently fell,” recalls Braun. “Today, he can run up the stairs! He appears just like any other healthy child, which was unimaginable a few years back.”
A breakthrough is also on the horizon for spinal muscular atrophy, a condition that historically resulted in a life expectancy of under two years. Thanks to a newly developed gene therapy, infants who undergo early screening can now thrive. “Several newborns have already benefited, and they are developing normally,” beams Braun. “They are still with us. Are we potentially saving them for life? It’s likely, but we will need time to find out.”
Despite these substantial advancements, wider implementation is still required. The Duchenne muscular dystrophy treatment is currently in the clinical trial stage. While the results have been “spectacular,” not every affected child has access to the treatment yet. “Our aim is to transition to large-scale trials and eventually secure approval for widespread use,” Braun clarifies. For spinal muscular atrophy, pilot studies in the Grand Est and Nouvelle Aquitaine regions are screening newborns for the disease, with plans for nationwide implementation by mid-2025 pending approval from the High Authority of Health.
As we look to the future, the Telethon is paving the way for revolutionary treatments for both rare and common diseases. Advanced trials are in progress for various neuromuscular disorders, and a gene therapy currently in the trial phase is enhancing the quality of life for individuals suffering from a rare liver disease. “This is the future of medicine taking shape,” asserts Braun. “The unwavering support from the French public, who contribute tens of millions of euros in donations each year, is truly yielding results.”
In addition to treating rare diseases, this research is extending its benefits to more prevalent conditions. “The therapeutic principles established for rare diseases are also applicable to common ailments, including certain cancers and age-related macular degeneration, which affects 30% of older adults,” highlights Braun. “Treatments derived from rare disease research, facilitated by the Telethon, represent a new tool in our therapeutic arsenal.” With these advancements, new hope is emerging for countless patients.