The Institute is taking part in the first gene therapy clinical trial of a neuromuscular disease, gamma-sarcoglycanopathy. This limb girdle muscular dystrophy is linked to the recessive autosomic transmission of a mutation in the gamma sarcoglycan gene. Généthon research teams developed this trial.

The gene therapy being studied consists of injecting a serotype 1 (AAV1) adeno-associated viral vector carrying a functional copy of this gene. The Phase I/II trail launched in November 2006 tests the safety and tolerance of the treatment in 9 voluntary patients older than 15 years. The local and systemic immune reactions, as well as the quality of gene transfer in the muscles are also evaluated. Clinical, histological, biological, immunological and functional parameters will therefore be analysed during 6 months for each patient by the teams of Pr Bruno Eymard, Pierre Carlier, Jean-Yves Hogrel, and Pr Serge Herson’s, the main investigator of the study (Pitié-Salpêtrière hospital), service of internal medicine.

In June 2007, the third patient was included in the trail.