Families and researchers are counting on you !

Life-changing treatments

Published at , last update at

The impossible becomes possible! Thanks to the momentum of the Telethon and the work of researchers, a true scientific and medical revolution has begun and the first victories against rare diseases - previously incurable - have been won.  

From a refusal to give up to the first treatments   

Because the disease destroyed the lives of their children or their loved ones, the families of AFM-Telethon decided to enter combat mode. Their rebellion, their determination and their refusal to give up gave them strength and boldness. With one goal: to change everything! To change the future that they were told was without hope, to change the fate that seemed inescapable. 

Step by step, with everyone involved, they laid down the foundations of the medical revolution that is happening today throughout the world in rare diseases, and more broadly for everyone’s benefit.   

Understanding rare diseases, identifying their genetic origin, imagining innovation treatments... from discoveries to major breakthroughs, the progression of knowledge and of technology has led to the first human trials, and to the first demonstration of the effectiveness of gene therapy. And today we are seeing the first big victories against the disease.   

The first victories against the disease  

  • 2000: 1st victory of gene therapy for “bubble babies”  
  • 2007: second success of gene therapy for immune deficiency (ADA-SCID)  
  • 2009-2010: gene therapy proved effective in a rare brain disease, X-linked adrenoleukodystrophy (the treatment obtained marketing authorization in 2021) and a blood disease, beta thalassemia  
  • 2015: stem cell transplant in the heart, a world first  
  • 2017: first genetically modified skin graft using a technology initially supported by AFM-Telethon
  • 2022: the long-term effectiveness of gene therapy is confirmed for Wiscott-Aldrich syndrome, an immune deficiency, following a gene therapy trial conducted by Genethon in 2010  

The snowball effect is a reality: the first victories for gene therapy in rare diseases of the immune system, the vision and the blood, as well as cancers, have paved the way for treatment of more complex diseases, particularly those that sometimes affect the entire body and the muscles, namely neuromuscular diseases, the trigger for the creation of AFM-Telethon.    

  • 2019: the first gene therapy treatment for a neuromuscular disease from pioneering research conducted at Genethon obtained marketing authorization in the United States for spinal muscular atrophy, followed by Europe and Japan in 2020. Babies otherwise condemned to die before the age of 2 can be saved by a single injection. Since then, several thousand babies have received this gene therapy.  
  • 2018-2021: The spectacular progress achieved by most children affected by myotubular myopathy treated as part of a trial demonstrates the effectiveness of the gene therapy developed by Genethon for this neuromuscular disease.

Increasing numbers of trials  

The Telethon changed the course of medicine. It gave AFM-Telethon the means to conduct an innovation strategy leading to a major therapeutic revolution. Today, the trials sponsored by the association or derived from its laboratories’ research are increasing in number. 

AFM-Telethon is sponsoring 40 trials in progress or in preparation for 33 different diseases.  

The revolution in medicine is benefiting rare diseases long considered to be incurable, but also more common diseases, such as age-related macular degeneration, cancers, neurodegenerative diseases and infarction. 

Read: Trials and treatments developped with our support