Yesterday the board of directors at Genethon nominated a new president to head the laboratory created in 1990 by the AFM (French Muscular Dystrophy Association). Thus Yves Champey succeeds Bernard Barataud, who has decided to hand over the reins after heading the laboratory between 1990 and 1995 and then between 1999 and 2008.

 

Yves Champey is a physician by training. Genethon will benefit from his international experience with responsibility for the development of new drugs within major pharmaceutical companies such as Pfizer and Rhône-Poulenc Rorer. Also, he contributed to the creation of the Drug for Neglected Diseases Initiative (DNDi) – of which he was president from 2003 to 2007. The DNDi is a foundation dedicated to the research and development of new drugs against neglected parasite diseases affecting poor populations. Finally, with Pierre Tambourin, he has been deeply involved in the development of Genopole® Evry, and is president of the board of directors of the pre-seed fund G1J Ile-de-France.

Five years after the identification of the gene responsible for progeria, a rare disease causing accelerated and premature ageing, a team of Spanish and French researchers (Carlos Lopez-Otin and coll. - University of Oviedo - and Nicolas Lévy and coll. - Inserm/AP-HM, Marseille, France) has successfully demonstrated a treatment for the disease, using mice. This treatment, combining two existing pharmacological molecules, should slow down the progression of this disease which has hitherto remained untreatable.

Subject to the authorisation of health agencies, this treatment could very soon be tested on 15 children in Europe. This represents a major advance for the families affected by this disease and – more generally – for the understanding of the normal ageing process.

Since 2000 each International Congress of Myology organised by the AFM has marked a step in the research concerning neuromuscular diseases. This third congress marked that of clinical development – many of the interventions during Myology 2008 were oriented towards therapeutic prospects or presented trials in humans. There is a boom in stem cells, particularly for the heart; gene surgery, which is being enriched by various techniques; as well as pharmacology etc. The time has arrived for treatments and with it, the development of evaluation methods for clinical trials has become of paramount importance. This is why Myology 2008 shared its programme this year with the 5th International Rehabilitation Congress in Neuromuscular Diseases. Through these two congresses the AFM has demonstrated that – from laboratory to patient – now is the time of the turning point towards treatments.

Walking, reaching out, jumping, getting up, but also breathing, digesting and eating etc. All these acts demanded of our bodies in order that they function correctly are possible thanks to the some 500 muscles that make them up, and which represent 40% of our body weight. While fundamental knowledge about the muscle continues to grow, clinical research is also making great strides. It is in this context – as the turning point towards treatment is getting under way with about forty clinical trials ongoing or in preparation – that the AFM is organising its third international scientific congress devoted to myology from 26 to 30 May in Marseille.

€ 102 315 233 : this is the final result of Téléthon 2007, organised on 7 and 8 December by the Association Française contre les Myopathies (AFM) and France Télévisions, with the support of the regional stations of the Radio France Group. Although after thirty hours of programming the counter of donations promised stood at € 96 228 136, the final figure came to over 6% more than that.

A research team led by Dr Isabelle Richard (CNRS-FRE3087) from the Généthon laboratory financed by the AFM through Téléthon donations has just demonstrated the efficacy of a novel pharmacological strategy in the mouse for certain mutations of alpha-sarcoglycanopathy or LGMD2D, a recessive limb girdle dystrophy. This pharmacological strategy could be applied to other limb girdle muscular dystrophies characterised by the same type of genetic mutation. This work is published online in the review Human Molecular Genetics.

In May 2008 the AFM is organising two international scientific and medical congresses on neuromuscular diseases at the Parc Chanot in Marseille.

From 26 to 30 May 2008, Myology 2008, the international congress of myology experts, presided by Thomas Voit, a neuropaediatrician, specialist in diseases of the muscle and medical and scientific director of the Myology Institute in Paris. On 30, 31 May and 1 June 2008, the Fifth International Congress of Rehabilitation in Neuromuscular Diseases, presided by Vincent Gauthron, rehabilitation physician at the Saint-Etienne University Hospital.

With the support of the AFM through Téléthon donations, the first ever phase I clinical trial (for feasibility and tolerance) based on the exon-skipping technique has been successfully carried out on children affected with Duchenne myopathy in the Netherlands. Conducted by the biotechnology company Prosensa in collaboration with the Leiden University Medical Centre, this trial used antisense oligonucleotides – small pieces of laboratory-synthesised DNA – placed on the pre-messenger RNA during its conversion to messenger RNA. Thus placed, the genetic mutation is shielded in the messenger RNA so as to allow production of the missing protein.

These results were published today in the American scientific review New England Journal of Medicine.

Can muscle stem cells from muscular dystrophy sufferers be corrected in a sustained fashion, and ultimately "cured"?  Using a gene therapy technique, "exon skipping" , a Franco-Italian research team coordinated by CNRS researcher Luis Garcia  and Yvan Torrente  has achieved this.  These researchers have, for the first time, restored the functionality of human dystrophin, the protein that is missing in a setting of Duchenne muscular dystrophy, which is the most common of the neuromuscular diseases.  They then transplanted these "corrected" human cells into mouse models of this disease in order to test their efficacy, and the muscle performance of these animals was seen to be improved.  Published on December 13, 2007 in the journal Cell Stem Cell, this work received partial support from the Généthon, the laboratory set up and funded by the AFM thanks to donations to the Téléthon.   It constitutes a step forward in autologous cell therapy using the patient's own "rehabilitated" cells.

On behalf of patients and their families, the AFM would like to express its deepest gratitude to all those who once again have given it their support. Despite difficult weather conditions, the French people did not fail to mobilise.

At a time when innovative therapies are undergoing their first trials on humans, the AFM is more than ever determined in its combat against disease. Though substantial, the income from this 21st Téléthon, could nevertheless slow down the development of treatments.