Muscular Dystrophies

Muscle Disease Quality-of-Life Study Seeks Participants

Researchers at the University of Michigan are seeking 30 young adults, ages 18-29, who have had symptoms of certain forms of muscular dystrophy or myopathy since birth, to complete an online survey that asks about their perceived quality of life and level of independence.

The study also is recruiting 30 adults with no neuromuscular disease.

Results will be used to identify ways that counselors and therapists can address specific factors considered important by people with congenital muscle diseases (present at or near birth).

Becker MD Study Seeks Participants

A new study to determine the best "outcome measure" (measurable activity) with which to assess thigh-muscle (quadriceps) strength in men with Becker muscular dystrophy (BMD) is seeking participants.

The study, taking place at Nationwide Children's Hospital in Columbus, Ohio, is a necessary prelude to a planned trial of gene therapy involving injections of genes for the follistatin protein in people with BMD.

Experts Gather to Focus on Heart in DMD

Experts from around the world will gather Jan. 21-22, 2011, at an MDA-sponsored conference about the heart in Duchenne muscular dystrophy (DMD).

MDA Awards $1.5 Million to Acceleron for DMD Drug Testing

MDA has begun funding tests of the experimental drug ACE-031 in children with Duchenne muscular dystrophy (DMD). The drug is being developed by Acceleron Pharma, a Cambridge, Mass., biotechnology company in collaboration with Shire, a global specialty biopharmaceutical company that focuses on developing, manufacturing and commercializing therapies for rare genetic diseases.

Nationwide Children's Podcast Explores Immunity in DMD

A January 2011 podcast from Nationwide Children's Hospital in Columbus, Ohio, probes a subject that's been on the minds of many researchers, doctors and families: autoimmunity (self-immunity) in Duchenne muscular dystrophy (DMD).

Gene Variant May Indicate Severity of DMD

A team of scientists working in the United States and Italy has uncovered a variant in the gene for a protein called osteopontin that appears to reliably indicate disease severity in most (but likely not all) cases of Duchenne muscular dystrophy (DMD).

The variant is apparently a genetic modifier of DMD, a disease in which the underlying cause is a mutation in the gene for the dystrophin protein and the resulting lack of dystrophin in the muscles.

‘CMD Standard of Care’ Guidelines Issued

Editor's note: This article was updated on Jan. 6, 2011, to include a direct, free link to the Journal of Child Neurology article about the CMD guidelines.

A panel of 82 international experts — including several MDA grantees and clinic directors — has produced the first-ever care guidelines for the congenital muscular dystrophies (CMD), a group of genetic neuromuscular disorders that have their onset at birth or in early infancy.

Research Briefs: DMD, BMD, MMD, SMA

Editor's note 2/7/11: A link to the Tivorsan Pharmaceuticals website has been added.

Duchenne and Becker muscular dystrophies

DMD Progression Studied in Very Young and Nonwalkers

Parents’ Perceptions Sought of DMD/BMD Ataluren Trials

If your child participated in a phase 2 clinical trial of ataluren (PTC124) for Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) conducted by PTC Therapeutics, you're invited to take part in a National Institutes of Health (NIH) study about the experience.

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