Genethon was sponsored a phase I clinical trial for gamma-sarcoglycanopathy (LGMD2C). The trial, which began in November 2006, was conducted by Prof. Serge Herson at Pitié Salpêtrière Hospital in Paris. It was based on the intramuscular administration of an AAV (adeno-associated virus) vector carrying a normal copy of the gene. So far, nine patients have been enrolled in the trial and results are being analyzed.
Gamma-sarcoglycanopathy, or LGMD2C, is a rare form of limb girdle muscular dystrophy caused by mutations in the gamma-sarcoglycan gene (gSG). It is characterized by proximal and progressive muscular weakness which begins before the age of 10 on average, with a loss of ambulation occuring at puberty. Cardiomyopathy and respiratory failure may occur as the disease progresses, which can worsen the prognosis of the disease and may cause premature death.
Genethon has already conducted preclinical studies in collaboration with the Harvard Gene Therapy Initiative in Boston and the team under Dr Lee Sweeney at the University of Pennsylvania in the USA.
Genethon has obtained ‘Orphan Drug’ status for the product being tested from the European Medicines Agency (EMA).
Based on the initial results of this clinical trial, Genethon has launched new preclinical studies in the hope of conducting a second trial aimed at correcting the pathology in an entire limb using locoregional intravenous infusion.