What exactly are the missions of the AFM?
The association supports research and information on rare diseases and genetic diseases, which affect 4 to 6% of the population, or 3 million French people. Out of nearly 6,000 rare diseases (of which around 200 are neuromuscular), 80% are of genetic origin. 90% of our resources come from the Telethon, the rest is covered by public and private funds. The pharmaceutical industry has made little commitment to date… In 2010, 82.6% of our resources were used for medical and social missions (research programs, therapeutic trials, patient support, advocacy actions, etc.). The remainder corresponds to collection costs (10.1%) and management costs (7.3%).
Does the association directly help researchers?
It funds more than two-thirds of research on rare diseases in our country. In total, nearly 1,000 researchers depend on the Telethon, of which around 600 work at Genethon, the AFM laboratory, at I-Stem, a laboratory specializing in cell therapy, and at the Institute of Myology. , a center of expertise dedicated to muscle diseases. The association also funds 300 programs carried out by different research teams throughout France.
How many clinical trials do you support?
We subsidize 36 therapeutic trials for 31 different diseases: diseases of the muscle, blood, eyesight, brain, liver, heart… It is the culmination of more than twenty years of work! We had to start with basic research, then there were laboratory tests, sometimes on animals. Some are now “ripe” to pass to humans. Each project spans more than five years and costs several million euros. Many of these trials may have repercussions on frequent pathologies, such as age-related macular degeneration (AMD, which affects the retina), Parkinson’s disease or even Alzheimer’s disease.
What are we doing in the new Généthon BioProd laboratory?
This new center, which will open its doors in 2012 in Évry, is dedicated to the very specific production of gene therapy vectors. Often derived from inactivated viruses, they are used to transport “drug genes” inside the patient’s cells to restore their proper functioning. They will be used during phase I / II clinical trials (to assess the drug’s tolerance) involving a few dozen patients, in France and abroad.
What advances have been obtained thanks to the Telethon?
Rare diseases are now recognized and the Rare Diseases Platform, supported by the association, is a unique place in Europe. An ultramodern laboratory, the Généthon, was able to see the light of day. Between 1991 and 1996, he produced the first maps of the human genome, the starting point for decoding the entire genome, which was completed in 2003. More than 800 genes responsible for diseases have been discovered thanks to the Genethon, this which allows reliable and precise diagnostics. There have also been advances in treatment.
What did he bring to gene therapy?
Various gene therapy trials, partly funded by the Telethon, have given hope to young patients and their parents. Twelve years after the first treatment, it is shown that gene therapy can restore the immune defenses of bubble babies and allow them to lead a normal life. Around fifty children suffering from immunodeficiency have benefited from it around the world. In 2009, a trial stopped the disease in two children with adrenoleukodystrophy, a serious genetic disease of the brain. In 2010, a youngster suffering from beta-thalassemia, a blood disease, returned to normal life without monthly transfusions.
Do you also work in cell therapy?
The I-Stem institute, supported by the AFM, succeeded in 2009 in recreating the epidermis from human embryonic stem cells. In 2011, researchers obtained functional melanocytes (cells that produce the skin’s pigment and protect it from UV rays). These cells could be used to treat severe burns and patients with pigmentation disorders, such as vitiligo. The researchers also succeeded in reproducing heart cells, paving the way for a future trial in heart attack victims. And that’s only the beginning…
What progress can we expect in the near future?
In Duchenne muscular dystrophy, molecules that directly repair the gene are being tested. The first results are very encouraging: for the first time, myopathy is no longer just slowing down, it is regressing! In Leber’s amaurosis, one of the main causes of blindness in children, a gene therapy trial started in 2011, following very promising results. This treatment could be extended to other genetic diseases of vision and to age-related macular degeneration (AMD).
Do you also participate in international studies?
With our support, one of the first clinical trials for the treatment of a rare disease by gene therapy has started at the Necker hospital (Paris). It will also be carried out in London and Boston (15 patients in total). It concerns Wiskott-Aldrich syndrome (WAS), an immune deficiency that causes death before adulthood if a compatible bone marrow donor cannot be found. In the next five years, we should experience many more successes, as the results are accelerating!
Telethon: LET’S MOBILIZE ON DECEMBER 2 AND 3!
Actor Gad Elmaleh will be the sponsor of this 25th Telethon organized by AFM and France Télévisions. Raphaël, 7, will be the spokesperson for the families. He has Duchenne muscular dystrophy, a neuromuscular disease that affects all muscles in the body.
Thirty hours of direct broadcast are planned on France 2 and France 3. And for the first time, all the France Televisions channels will participate.
Eight ambassador cities will relay the mobilization: Châtillon-sur-Chalaronne (01), Dax (40), Honfleur (14), Lons-le-Saunier (39), Lunéville (54), Montélimar (26) and Sucé-sur-Erdre (44).
You can make a donation by calling 3637 (free call from
a landline) or on www.telethon.fr
