Myotubular myopathy (MTM) is a rare and severe genetic disease of skeletal muscle. The affected boys display hypotonia and generalized muscle weakness from birth.
Preclinical gene therapy study
- Reference laboratory: Genethon
- Partner: Wake Forest University (USA)
The proof of principle of the efficacy of a gene therapy strategy based on the administration of an AAV (AdenoAssociated Virus) vector carrying a normal copy of the mutated gene was performed by the IGBMC in collaboration with Genethon in an animal model (Buj-Bello et al., Human Mol. Genet. 17, 2008). In collaboration with Wake Forest University in the USA, Genethon is carrying out preclinical studies which aim to define a strategy for a future clinical trial.
- Reference laboratory: Institute of Myology
This prospective, non-interventional, longitudinal study of the natural history and function of approximately 60 patients with MTM from the United States, Canada and Europe aims at characterizing the disease course of MTM and determining which outcome measures will be the best to assess the efficacy of potential therapies.
For further information: NatHis-MTM study webpage