Myotubular myopathy, also called X-linked centronuclear myopathy, is a rare and severe genetic disorder of the skeletal musculature. This pathology is linked to the mutation of the myotubularin gene (MTM1). This genetic defect prevents the production of a protein involved in the contraction of muscles.
Boys with this form of myopathy develop hypotonia (decreased muscle tone) and generalized muscle weakness from birth as well as respiratory distress. There is currently no treatment for this inherited neuromuscular disease. But the prowess of French researchers from the Evry laboratory, near Paris, revives the hope of a future means of cure.
In a study published Wednesday in the scientific journal Science Translational Medicine, researchers describe how they succeeded, through gene therapy, in reversing the effects of the disease on two dogs carrying this genetic disease. The success of their experiment is due to the injection of a virus rendered harmless to animals and genetically modified so as to restart the production of the protein encoded by the MTM1 gene.
Human clinical trials for 2015
“This is the first gene therapy showing such high efficacy in large animals in the context of a muscle disease”, enthuses Fulvio ¬Mavilio, scientific director of Genethon and co-author of the study, interviewed by Le Figaro.
These preclinical results are extremely promising for further research. The next step will indeed be to test the effectiveness of the method on humans. The first clinical trials should start in 2015.
