Efficacy of gene therapy demonstrated in canine and murine myotubular myopathy models

A team of French researchers, led by Dr. Ana Buj-Bello (Genethon/Inserm) and teams at the University of Washington and Harvard Medical School in the United States, have demonstrated the efficacy of gene therapy in models of myotubular myopathy, an extremely severe neuromuscular disease in children. Transfer of the MTM1 gene, which is deficient in the disease, corrected the affected muscles in mice and dogs and prolonged the survival of treated animals. This work, published today in Science Translational Medicine, has been achieved thanks to donations from the French Telethon and the support of the Myotubular Trust.

Dr. Ana Buj Bello, principal investigator at Genethon said: “These results are the culmination of four years of research and show how gene therapy is effective for this genetic muscle disease. We finally can envision a clinical trial in patients. These are very promising results.”

Dr. Martin Childers from University of Washington said: “The implications of the pre-clinical findings are extraordinary for inherited muscular diseases. Two of our dogs treated with AAV-mediated gene therapy appear almost normal with little, if any, evidence, even microscopically, of disease caused by XLMTM.”

Read the publication:

Gene Therapy Prolongs Survival and Restores Function in Murine and Canine Models of Myotubular Myopathy, M. K. Childers et al. (2014)