Other Myopathies

Reducing dynamin 2 protein levels benefited mice with a disorder mimicking human myobutular myopathy; the strategy could have implications for MTM and additional diseases

posted on April 15, 2014 - 10:04am
A French research team has found that reducing levels of a protein called dynamin 2 has potential as a strategy to treat myotubular myopathy (MTM), a form of centronuclear myopathy (CNM), and that it could have implications for other nerve and muscle disorders as well.

A study to determine the usual disease course of myotubular myopathy has sites in North America and France

posted on March 18, 2014 - 11:41am
A study to track the natural history and functional capabilities of patients with myotubular myopathy (MTM), a form of centronuclear myopathy (CNM), is recruiting approximately 60 patients of any age (including newborns). There are three North American study sites — Boston, Bethesda, Md., Toronto — and a site in Paris.

Researchers funded in part by MDA found that a single blood-vessel injection of myotubularin genes markedly improved muscle abnormalities and survival in mice and dogs

posted on January 22, 2014 - 12:03pm
Update (Feb. 3, 2014): The video from the University of Washington has been edited, and the link has been updated to reflect this. Update (Jan. 27, 2014): MDA also supported Alan Beggs at Harvard University on this study. We regret not including this information intially.

A privacy-protected registry and global map using geographic tagging of people with centronuclear/myotubular myopathy is being developed to speed research

posted on October 31, 2013 - 3:23pm
A patient registry and world map of people with centronuclear myopathies (CNM), including myotubular myopathy (MTM), are being developed and are seeking participation from people with these disorders or their family members.

An MDA-supported research team has added mutations in titin, a gene for a protein involved in muscle contraction, to the known causes of centronuclear myopathy

posted on September 23, 2013 - 5:00am
Researchers in the United States and France, supported in part by MDA, have established that mutations in the titin gene are a cause of centronuclear myopathy (CNM), a group of muscle disorders characterized by variable degrees of weakness and cell nuclei that are abnormally located toward the center of muscle fibers rather than around the perimeter.

50 women are needed to fill out a questionnaire about the effects of myotonia congenita and paramyotonia congenita on pregnancy and delivery — and vice versa

posted on July 19, 2013 - 5:00am
Upate (Dec. 18, 2013): This study of pregnancy and delivery in women with myotonias is no longer recruiting new participants. The investigators will continue to collect data forms from people with whom they are already in contact. Investigators at the University of Rochester (N.Y.) are seeking participants for a questionnaire-based study of pregnancy and delivery in women with nondystrophic...

A $1.2 million MDA grant will help move an experimental cell-penetrating treatment for myotubular myopathy toward human testing

posted on May 30, 2013 - 5:00am
The Muscular Dystrophy Association has awarded $1,195,762 over two years to biotechnology company Valerion Therapeutics (formerly 4s3 Bioscience) for development of a treatment for myotubular myopathy (MTM).

MDA partnered with a French muscle disease association to host a symposium on advancing gene therapy for neuromuscular diseases

posted on May 23, 2013 - 5:00am
Planning for the next generation of gene and stem cell therapies for muscular dystrophies — even as the first generation is still under development — was the theme of a joint symposium sponsored by MDA and the Association Française Contre les Myopathies (French Association Against Myopathies, or AFM) at the 16th annual meeting of the American Society of Gene & Cell Therapy (ASGCT).