Organized by the AFM (Association française contre les myopathies) since 1987, the Telethon is one of the largest popular fundraisers in the world, with more than 2 billion euros harvested in thirty years.
It finances research on rare diseases, but not only … Accused regularly of not having kept its promises, or of pushing the French to give a lot for rare diseases to the detriment of more common pathologies, “he already has several victories to his credit, with repercussions of general interest “, insists Laurence Tiennot-Herment, president of the AFM-Telethon.
It also funds heart failure and Parkinson’s disease
The Telethon was originally designed to advance research into myopathies. Buthe advances made in the context of rare diseases open up promising avenues for more common disorders, such as Parkinson disease, or AMD (age-related macular degeneration, an eye condition) “, underlines Serge Braun, scientific director of the AFM-Telethon.
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In addition, the Telethon directly finances a clinical trial on a very common disease: heart failure, which affects more than 1 million French people. Of the 121.5 million euros received by the AFM-Telethon in 2015, of which 93.9 million came from the Telethon, nearly 52% went to research. The rest was used to help patients (28%), to collect and manage donations (18%), and to communicate about the Telethon’s missions (2%).
In 30 years, hundreds of genes responsible for rare diseases have been discovered
The agent harvested thus made it possible, in the mid-1990s, to produce the first maps of the human genome. Which led to the discovery of several hundred genes responsible for rare diseases. And the Telethon has supported the development of several innovative therapies: gene therapy (which consists of introducing healthy genes into cells to correct defective genes responsible for diseases), cell therapy (injection of healthy stem cells to regenerate damaged tissues) and gene surgery (removal or replacement of the piece of DNA sick directly at the cellular level).
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In clinical trials, the gene therapy technique has offered an almost normal life to nearly a hundred patients worldwide suffering from severe immune deficiency (first success published in 2000), adrenoleukodystrophy (rare disease of brain, 2009), or beta-thalassemia (common blood disease, 2010).
As for cell therapy, in 2015 a Parisian team achieved a world first: transplanting heart cells derived from human embryonic stem cells into a patient suffering from severe heart failure. Finally, some drugs resulting from Telethon research have already received marketing authorization. This is the case of Translarna® used for certain forms of Duchenne muscular dystrophy, approved in 2014.
4 reference laboratories
The Telethon is also four reference research laboratories. The Généthon (Évry) and Atlantic Gene Therapies (Nantes) are dedicated to research in gene therapy for rare diseases. I-Stem (Évry) is working on cell therapy, the Institute of Myology (Paris) on muscle diseases. A preindustrial production laboratory for drug candidates, Généthon Bio-Prod, opened in 2013 to market on a large scale gene therapy products previously manufactured for human trials.
Increased life expectancy and quality of life for patients (patients with Duchenne muscular dystrophy, for example, have gained nearly twenty years of life expectancy), improved support for patients and their families , recognition of their rights … “The therapeutic and social landscape faced by parents who are told of a rare disease in their child has nothing to do with the one I experienced almost thirty years ago, when I was diagnosed with Duchenne muscular dystrophy in my son “, notes Laurence Tiennot-Herment.
But there are still many treatments to be developed. “In addition to producing biomedicines on a large scale, we must also continue to search for new genes responsible for diseases, develop new therapeutic strategies and test new therapies. In 2017, a gene therapy trial concerning a rare liver disease should begin: Crigler-Najjar disease “ specifies Serge Braun. But more than 90% of rare diseases do not yet have a cure. “Telethon donations are therefore more necessary than ever” to better care for the sick.
Read also : Our special Telethon file
