Myotubular Myopathy

Research Pre-clinical phase Phase I or I/II  

Myotubular myopathy is a rare and severe genetic disorder of skeletal muscle. It affects boys from birth and presents as generalized muscle weakness and hypotonia.
There is no specific treatment for the condition and most patients die during infancy following respiratory failure.

The proof of concept of the efficacy of gene therapy, based on the administration of an AAV (adeno-associated virus) vector carrying a normal copy of the mutated gene, was provided by the IGBMC in collaboration with Genethon using an animal model (Buj-Bello et al., Journal Human Mol Genet, 17, 2008).

Genethon initiated research on gene therapy treatment of myotubular myopathy in 2003 in collaboration with Anna Buj Bello who was then at IGBMC (Strasbourg) and later moved to Genethon. She was able to show 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 developed at IGBMC in an animal model, in collaboration with Genethon (Buj-Bello et al, Human Mol. Genet, 17, 2008).

In collaboration with American groups from the University of Washington in Seattle (Martin Childers) and Harvard Medical School in Boston (Alan Beggs), Genethon has demonstrated the efficacy of gene therapy in a dog model of myotubular myopathy. The treatment corrected the symptoms of the disease and prolonged survival in the treated animals. The vectors used for the gene therapy were developed and produced by Genethon.

This work has been published in Science Translational Medicine.

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

Following these preclinical results, Genethon is collaborating with Audentes Therapeutics, a biotechnology company specialized in the development of treatments for rare muscle disorders, in order to initiate a clinical trial for myotubular myopathy based on gene therapy.


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