Muscular Dystrophies

Boy with DMD 'Outswims' Olympian Michael Phelps

Logan Mitzel has one word for his swim with Olympic champion Michael Phelps: “awesome.”

The 11-year-old from Aurora, Ill., who has Duchenne muscular dystrophy (DMD) and relies on a manual wheelchair for mobility, loves to swim so much that in 2010 he completed a streak of swimming every day for 77 consecutive days.

Research Briefs: CMS, DMD, LGMD, Pompe, Stem Cells

Congenital myasthenic syndromes

A multinational team of scientists has identified mutations in the gene for glutamine-fructose-6-phosphate transaminase 1 (GFPT1) as responsible for some forms of a congenital myasthenic syndrome (CMS).

Research Briefs: CMT, CMS, DMD/BMD, FA, Pompe disease, SBMA

UCLA Researcher Receives MDA Grant to Develop DMD Drug

A new MDA translational research grant for $476,465 over three years will allow Carmen Bertoni at the University of California, Los Angeles (UCLA) to develop RTC13, an experimental compound designed to treat Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) caused by a specific type of flaw in the gene for the muscle protein dystrophin.

MDA Awards $13.5 Million in Research Grants

The Muscular Dystrophy Association has awarded 44 grants totaling $13.5 million to support research efforts aimed at advancing understanding of disease processes and uncovering new strategies for treatments and cures of muscular dystrophy and the more than 40 other diseases in the Association’s program.

The new grants were reviewed by MDA’s Scientific and Medical Advisory Committees, and approved by MDA’s Board of Directors at its December meeting.

Doctors Talk Heart to Heart

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.

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