The Telethon between first medical victories and 95% of rare diseases still without treatment

2023-12-08 07:00:00

«20 years ago we only talked about tragedies and deaths», recalls Laurence Tiennot-Herment when she took over as president of the AFM-Téléthon. Since 2018, she has been delighted “a real acceleration of results and victories“. Thanks to donations, Généthon, the association’s laboratory, has enabled revolutionary breakthroughs in the understanding and even treatment of genetic and rare diseases. Worldwide, more than 3,000 babies suffering from severe spinal muscular atrophy, a disease with a life expectancy of less than 2 years, have been treated in a few years thanks to gene therapy from Généthon. One of the stars of the 2023 Telethon will be little Ibrahima, who was able to receive a single injection at the age of 5 weeks and who is now living normally, like other 2 and a half year old children.

Jules, 7 years old, is another striking example. Since a single injection administered in January 2020, as part of a clinical trial, he has been walking and cycling when “his whole life was only held together thanks to devices», Testifies his father. He suffered from myotubular myopathy, a disease causing extreme muscle weakness with death rates of 50% before 18 months and 75% before 10 years, and extremely debilitating living conditions such as inability to get up and restraint. mechanical respiratory assistance 22 hours a day.

More breakthroughs like these are expected and hoped for. Promising clinical advances are emerging, for example, in Crigler-Najjar syndrome, a fatal liver disease for which the only available treatment is spending 12 hours a day under blue lights, or limb-girdle myopathy which leads to muscular degeneration of the muscles of the pelvis and shoulders. In total today, the AFM-Téléthon is involved in 38 clinical trials for 29 diseases (muscle, skin, blood, brain, liver and even vision), and conducts 200 research programs per year. .