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15 Jan 2018

Myotubular Myopathy

Illustration for article: Myotubular Myopathy
Genethon welcomes interim data of a phase I / II clinical trial with a gene therapy product developed in its laboratories

Audentes Therapeutics, a biotechnology company, launched the first gene therapy clinical trial in children with myotubular myopathy disease using a gene therapy product designed at Genethon (Read the press release). At the 12-week timepoint, the first 3 children treated show early signs of efficacy :

 -Significant improvements in neuromuscular function
- Significant improvements in respiratory function
- Improvement of the general condition of treated children
To discover in detail the results for each of the 3 children treated: http://prn.to/2lXCrsE

Myotubular myopathy is an X-linked genetic disease affecting 1 in every 50,000 newborn boys. It is caused by mutations in the MTM1 gene encoding myotubularin, a protein involved in the development and function of muscle cells. It is characterized by extreme muscle weakness and respiratory failure, with an estimated 50% mortality rate by 18 months of age.