An American study conducted in collaboration with Genethon has provided proof-of-concept for enzyme replacement therapy in mice. The treatment carried out in mice involved replacing the missing myotubularin in this disease by a laboratory-modified form of myotubularin that is capable of specifically targeting the inside of skeletal muscle cells.
Intramuscular injections of this product improved contraction and reduced histological abnormalities in the muscles of a mouse model of X-linked myotubular congenital myopathy (Mtm1δ4), thus providing proof-of-concept of the potential effectiveness of this therapeutic approach.
Genethon participated in this study. The laboratory created and supported by the AFM-Telethon has been working for several years on the development of a gene therapy treatment for congenital myotubular myopathy. Preclinical studies have been completed or are underway at the U.S. universities Wake Forrest and Washington in Seattle.
