Myotubular Myopathy

Research Pre-clinical phase Phase I or I/II  

Myotubular myopathy is a rare and severe genetic disease affecting the skeletal muscles caused by mutations in the myotubularin gene (MTM1) and which only affects boys.

Affected infants present significant muscle weakness, hypotonia and respiratory distress from birth.

There is currently no cure for the disease and in most cases, the outcome is fatal the first months of life, and 50% of the children die before the age of two years. Some affected boys can live into adolescence or even beyond, but their survival is dependent on a significant supportive care and, often, permanent mechanical ventilation.

Genethon initiated research on gene therapy for the treatment of myotubular myopathy in 2004 in collaboration with Dr Anna Buj Bello who then worked at the IGBMC (Strasbourg) but later moved to Genethon. She demonstrated the efficacy of a gene therapy strategy based on the administration of an AAV (Adeno-Associated Virus) vector carrying a normal copy of the mutated gene (Buj-Bello et al, Human Mol. Genet, 17, 2008).

In collaboration with American teams from the University of Washington in Seattle (Martin Childers) and Harvard Medical School in Boston (Alan Beggs), Genethon demonstrated the efficacy of gene therapy in a dog model of myotubular myopathy.

The treatment corrected the symptoms of the disease and prolonged survival of the treated animals. The vectors used for the gene therapy were developed and produced by Genethon (Childers et al, Sci Transl Med. 2014 Jan 22).

The AFM-Telethon in France, the Muscular Dystrophy Association in the United States, the Myotubular Trust in Britain, the Anderson Family Foundation and the Joshua Frase Foundation all participated in the financing of this study.

On the basis of these preclinical results, Genethon collaborated with Audentes Therapeutics, a biotechnology company specialized in the development of treatments for rare muscle disorders, to set up a clinical trial to assess the treatment of myotubular myopathy by gene therapy.

The first gene therapy clinical trial for myotubular myopathy, conducted by the biotechnology company Audentes, began in September 2017 and the first results show significant effects on the muscular and respiratory functions of treated children.


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