A review of the year 2022 with the AFM-Téléthon

The year 2022 has just drawn to a close, carried by the slogan “We will not give up”, which has enabled AFM-Telethon to celebrate its greatest victories and to continue the fight for all those whose disease remains untreated.

2022 also saw new advances in research in several diseases, the organization of a major international scientific congress, and was also marked by demands for caregivers and access to innovative treatments.

Take a look back at the association’s 2022 highlights.



Gene therapy shows long-term efficacy in Wiscott-Aldrich syndrome, a rare disease of the immune system. Anne Galy, Director of the Integrare joint research unit (UMR951) at Genethon, declares: “The Genethon teams have taken this project from translational research to clinical trial by working with the best clinical teams internationally. We are delighted with the results of this trial which now show the efficacy and long-term safety of this approach for this rare and severe immune deficiency.


A new gene therapy approach, known as “decoy therapy”, proves its worth in the treatment of Steinert’s disease. Developed by researchers from the REDS team at the Institute of Myology, it is effective against the symptoms of the disease in mice. A hope for patients! Read Denis Furling’s interview on this discovery.


February is also marked by AFM-Telethon’s demand for access to innovative treatments for patients in France. The Association is alerting people with rare diseases to an unacceptable situation: drugs developed by French research are inaccessible to European patients! We must act!


On the occasion of the 20th anniversary of the law of 4 March 2002, AFM-Telethon takes stock. Although the law has led to major advances in patients’ rights, new rights remain to be won and AFM-Téléthon continues to fight alongside patients.


Innovative work, the result of a collaboration between I-Stem and Genethon, opens a new avenue for the treatment of limb-girdle muscular dystrophy: the identification, thanks to high-throughput screening on cell models, of a pharmacological combination for a form of this disease. An encouraging therapeutic avenue for other genetic diseases!


At the initiative of the AFM-Telethon, neonatal genetic screening for spinal muscular atrophy is being launched in maternity wards in the Grand Est and Nouvelle-Aquitaine regions. The aim? To enable children to be treated as early as possible, before symptoms appear.

June is also marked by a major event for the Association! On 24 and 25 June, the 2022 Family Days will enable hundreds of families to get together to share convivial moments and information on the progress of research and daily life. They are preceded by two national days on myasthenias and Duchenne-Becker muscular dystrophy in adulthood.


From 12 to 17 September 2022, the AFM-Telethon brings together nearly 900 international experts in myology and mitochondria in Nice for two major congresses: Myology 2022 and MitoNice. The aim: to take stock of research in these fast-growing fields. A success!


Also in September, a first patient was treated in a European gene therapy trial for limb-girdle muscular dystrophy linked to the FKRP gene. Three investigation centres in Europe: Denmark, the United Kingdom and France, where the patients included in the trial will be treated and followed at I-Motion Adult. A major step, the result of 30 years of excellent research conducted by Isabelle Richard and her team at Genethon.



The AFM-Telethon is calling on the public authorities to address the shortage of trained professionals who are putting patients in a situation of great dependence at home at risk. Paying tribute to caregivers is good, helping them is better!


The 1000 researchers in schools operation, created by the AFM-Telethon, is celebrating its tenth anniversary. This year again, scientists supported by the Association went to meet more than 37,000 secondary school students to talk about genetics and explain their work.

Telethon Gaming: from 11 to 13 November, the Telethon took to the digital stage. 200 volunteer gamers mobilised for 50 hours non-stop, on Twitch and Youtube, to benefit the fight against rare diseases.


On 3 December, the Telethon 2022 ended with a total of 78,051,091 euros raised. A Telethon marked by new victories against disease. Thank you to all the donors, volunteers, families, researchers and our super sponsor Kev Adams! Together, we won’t give up!

You can continue to make donations until the end of February on the Institute of Myology’s collection page. All donations will be donated to the Telethon 2022! Thank you.