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.

Frédéric Revah brings over 20 years' experience in the pharmaceutical and biotech industries and academic research to the job. Généthon will notably benefit from his acknowledged expertise in the management of therapeutic innovation. "Today, Généthon is one of the world's benchmark labs for the development of innovative therapies for rare diseases, thanks to a unique, synergistic set of skills (ranging from research and clinical development to large-scale biomanufacturing) and exceptional support from the AFM and its donors. My goal is to pursue and accelerate this progress and deliver gene therapies to patients with rare diseases in general and neuromuscular diseases in particular", stated Généthon's new 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.

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.
“On behalf of the patients and their families, I would like to thank everyone who took part in this key event to combat diseases, which we have been leading together for more than 20 years. Today, 30 diseases are on the brink of being cured by medicine. With sheer determination, we will do our utmost so that the word “cure” becomes a reality for as many people as possible,” stated Laurence Tiennot-Herment, President of the AFM, after the 30-hour fund-raising marathon.

The French team led by Prof. Aubourg and Dr Cartier (Saint-Vincent de Paul Hospital, Inserm), long supported by the AFM through Telethon donations, announced that it has successfully treated two children suffering from a rare genetic brain disease – adenoleukodystrophy – in the journal Science on 6 November 2009. The treatment has halted this progressive disease in these children. This represents a major advance for all rare disease sufferers and also for all those who have rallied to support them over the years, especially during the annual Telethon campaigns.

Daniel Auteuil is set to be the face of Telethon 2009, which will be broadcast live by France 2 and France 3 on 4 & 5 December from the former Baltard covered market (evenings) and the city of Annecy (Saturday afternoon). He will be joined by Céleste (7 years old) and Léandre (10 years old) during the 30-hour long broadcast. The brother and sister duo is affected by the same muscular dystrophy which slowly saps them of their strength. Together, they will rise to the challenge of Telethon 2009: “Tous plus forts que tout” (“Together we are stronger than anything”). From now on, 200,000 volunteers across France are spreading the message to ensure that this event is unparalleled to any other. Coverage from the France Radio stations will help this message reach the widest audience possible.

Research teams at the Institut de Myologie (Myology Institute) in Paris have identified two new genes responsible for neuromuscular diseases: a congenital myasthenic syndrome and Emery-Dreifuss muscular dystrophy. A crucial milestone in terms of understanding these diseases and developing treatment strategies, in the immediate term, these discoveries will make it possible to more accurately diagnose diseases and offer genetic counselling to the families concerned.

On 25 June 2009, the Plateforme de Ressources Biologiques (PRB or Biological Resource Platform) at Pitié-Salpêtrière Hospital in Paris will be inaugurated. This new platform brings together several biobanks under the same roof: Myobank, the muscle tissue bank created by the Institut de Myologie-AFM (Myology Institute - French Muscular Dystrophy Association), the NeuroCEB EIG, a tissue bank for research into neurodegenerative diseases, and the tumour and brain tissue banks collected by AP-HP (the Public Health Organisation serving Paris). The aim is to stimulate biomedical research by providing both French and foreign research scientists with a very broad range of human biological material samples, as along with the corresponding clinical, biological and genetic information.