Press Releases :

Généthon, the not-for-profit biotherapy laboratory operated by the French Muscular Dystrophy Association (AFM) with funding from the country's annual Telethon*, has just obtained approval from the French and British health authorities for a Phase I/II clinical trial of gene therapy for a rare immunodeficiency, Wiskott-Aldrich syndrome (WAS). The Généthon-sponsored trial will be performed both in France (led by Professors Alain Fischer (1) and Marina Cavazzana-Calvo (2) at Necker Children's Hospital, Paris) and in the UK (led by Professor Adrian Thrasher at London's Great Ormond Street Hospital). With just a few days to go to Rare Disease Day 2010* (February 28th, with a focus on "Bridging Patients and Researchers”), initiation of this trial marks a new step towards curing rare diseases with innovative biotherapies.

Généthon, the not-for-profit biotherapy research centre created by the French Muscular Dystrophy Association (AFM) and funded with donations from the country's annual Telethon, today announced the appointment of Frédéric Revah PhD as Chief Executive.

A team of researchers led by Isabelle Richard (CNRS UMR8587 LAMBE) in the Généthon laboratory, created and funded by AFM through Téléthon, has just demonstrated the efficacy in animals of a gene therapy strategy for a group of muscle diseases: dysferlin deficiencies. The scientists managed to transfer the dysferlin gene using a newly developed technique for transporting a “large” gene into muscle. By splitting this gene into two and placing each part in two independent AAV vectors, they successfully obtained expression of a whole and functional protein in mice models for the first time. This research, published online in Human Molecular Genetics, paves the way for gene therapy for dysferlin deficiencies and provides new information for the transfer of other large genes.

After the first year of cooperation, the AFM is extending its partnership with Myosix, a specialist in the production and development of cell therapy products, to provide free myoblasts for research teams working on the development of innovative therapies for neuromuscular diseases: 12 teams in France and abroad have already taken advantage of this service, with the 88 batches of myoblasts supplied.

With the donation pledge counter amounting to more than €90 million, the 23rd Téléthon managed to rally generosity and solidarity, and take up the challenge despite difficult times. France showed its unwavering support for helping patients and their families to defeat long forgotten diseases. Such commitment over the long run has produced concrete results: today children are starting to benefit from innovative therapies.