Quest News (online only)

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.

The final story in the series covering the 2014 MDA Clinical Conference addresses helping the brothers and sisters of children with disabilities

posted on April 11, 2014 - 1:57pm
"Anything we can say about being a parent of a person with special needs we can pretty much say for being a sibling of a person with special needs," said Don Meyer, director of the Sibling Support Project based in Seattle. Meyer talked about siblings of people with disabilities at the 2014 MDA Clinical Conference in Chicago during an afternoon session titled "Specialized Care," held March 18.

This second of a series of three stories covering the 2014 MDA Clinical Conference discusses pain in neuromuscular disorders

posted on April 4, 2014 - 9:52am
The 2014 MDA Clinical Conference, held in Chicago March 16-19, was attended by some 500 people, mostly physicians and other health care professionals.

This first of a series of three stories covering the 2014 MDA Clinical Conference discusses implications of new types of genetic testing

posted on March 28, 2014 - 10:57am
“Knowing, if not all, is almost all,” said Matthew Harms, a neurologist and neurophysiologist from Washington University in St. Louis, in his presentation on genetic testing for neuromuscular disorders at the 2014 MDA Clinical Conference, held in Chicago March 16-19.

A phase 2 trial of Duchenne MD drug drisapersen found the high-dose group walked farther than the placebo group at 24 and 48 weeks

posted on March 18, 2014 - 4:10pm
Update March 27, 2014: Prosensa and United Parent Projects Muscular Dystrophy jointly presented an educational webinar for patients and families affected by Duchenne muscular dystrophy on March 25, 2014. The approximately one-hour presentation is archived at Events & Presentations on the Prosensa site and includes a thorough discussion of Prosensa's plans for drisapersen and other exon-...

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.

Preliminary results for a phase 2 trial of the experimental compound olesoxime suggest it may preserve motor function in spinal muscular atrophy

posted on March 13, 2014 - 9:41am
The experimental compound olesoxime (TRO19622), in development by French biotechnology company Trophos as a potential treatment for spinal muscular atrophy (SMA), has shown encouraging results in a phase 2 trial involving 165 children and young adults with this disorder.