The gamma-Sarcoglycanopathy or LGMDR5 (previous nomenclature LGMD2C) is a form of Limb Girdle Muscular Dystrophies. This rare disease is caused by mutations in the gamma-sarcoglycan gene that lead to degeneration of the muscular cells (ORPHA:353)
It is characterized by progressive weakness of the girdle and shoulder muscles, usually beginning before the age of 10, with a loss of ambulation occurring at puberty. Cardiac and respiratory muscle failures may occur as the disease progresses, worsening the prognosis and causing premature death.
Genethon has been a pioneer in research on this topic and sponsored a phase I clinical trial for gamma-sarcoglycanopathy. The trial involved intramuscular administration of an AAV (Adeno-Associated Virus) vector carrying a copy of the normal gene. Nine patients were enrolled in the trial in total. One month after injection, the researchers observed a good tolerance of the product and the presence of the therapeutic gene in the patients treated with the highest dose but in limited amount.
The project benefits from the recent developments of gene transfer technologies. This currently preclinical stage program aims at bringing a sufficient amount of therapeutic protein in patient muscles.
Towards a clinical trial for gamma-sarcoglycanopathy : read the press release (2019, May 23)