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15 Jun 2012

Encouraging results in a Phase I clinical trial in limb-girdle muscular dystrophy type 2C

Illustration for article: Encouraging results in a Phase I clinical trial in limb-girdle muscular dystrophy type 2C
The results of a Phase I clinical trial of gene therapy for limb-girdle muscular dystrophy type 2C (a rare neuromuscular disease) have just been published in the journal Brain on January 11, 2012.

The trial's results have just been published and are encouraging. Above all, the injections were well tolerated and not associated with adverse physical or biological effects. Furthermore, assays in five patients revealed the presence of RNA produced from the therapeutic gene (RNA is the intermediate genetic material between the gene and the protein). Immunohistochemical analysis of injected-muscle biopsy specimens showed γSGC expression in three out the three patients who received the highest dose. Furthermore, in one of these patients (who had received the highest dose of treatment), a western blot assay revealed that normal protein gamma-sarcoglycan was being expressed in the muscle fibers. Thanks to gene therapy, the missing gamma-sarcoglycan protein was being produced anew.

The physicians and researchers at Généthon, the Institute of Myology and Pitié-Salpêtriere (AP-HP) are continuing their work. They intend to set up a new trial in which an AAV8 vector will be used to treat a whole limb.

Learn more about this trial