Muscular Dystrophies

Results of the MDA-supported trial of gentamicin in Duchenne muscular dystrophy (DMD) were presented Wednesday, April 14, at the annual meeting of the American Academy of Neurology (AAN), held in Toronto.

Levels of the needed dystrophin protein increased in six out of 12 participants who received the drug for six months. No functional improvements were seen.

The multinational pharmaceutical company GlaxoSmithKline (GSK) and the Dutch biotechnology company Prosensa  announced "intriguing results" following a 12-person trial of an experimental "exon skipping" therapeutic for Duchenne muscular dystrophy (DMD).

MDA has awarded two grants for research aimed at determining the precise molecular causes of facioscapulohumeral dystrophy (FSHD), and developing therapies for the disease.

MDA and Friends of FSH Research (FFSHR) based in Kirkland, Wash., will jointly fund a two-year, $200,000 grant to Joel Chamberlain, an assistant professor of medical genetics at the University of Washington in Seattle.

An MDA-supported clinical trial of intravenous gentamicin in children and adolescents with a form of Duchenne muscular dystrophy (DMD) caused by so-called "nonsense" mutations (also called "premature stop codon" mutations) found the drug was safe and that levels of the muscle protein dystrophin increased in some, but not all, participants who received the drug for six months.

A synthetic compound that seals cellular membranes has been found to stop the progression of heart-muscle destruction in dogs with a disease closely resembling human Duchenne muscular dystrophy (DMD), MDA-supported researchers have found.

The biopharmaceutical firm PTC Therapeutics announced March 3 that ataluren, its experimental drug for certain forms of Duchenne (DMD) and Becker (BMD) muscular dystrophy, although safe and well tolerated, failed to meet its primary end point within the 48-week duration of the phase 2b trial. That end point was an improvement in how far boys with DMD or BMD could walk in six minutes.

Remodeling a building usually requires some degree of dismantling before new construction can begin. That principle, it now seems, also may apply to the remodeling of the body's cells. 

Scientists at Ottawa Hospital Research Institute and the University of Ottawa have found recently that it applies to muscle cells, which can only develop from a stemlike state into mature muscle fibers after a certain amount of their DNA has been disassembled and then rebuilt. 

About the new findings 

An MDA-supported, multinational team of researchers from Canada and Europe has identified specific mutations in the anoctamin 5 (ANO5) gene on chromosome 11 that can cause type 2L limb-girdle muscular dystrophy (LGMD2L) and type 3 Miyoshi myopathy.

This story was updated Oct. 6, 2010.

In many forms of muscular dystrophy, including Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), weakness and degeneration of the cardiac muscle can be a major part of the disease, and one that frequently shortens life.