Muscular Dystrophies

FA Research: Idebenone Strikes Out Again

Idebenone, a substance believed to act as an antioxidant and to aid in energy production in cellular structures called mitochondria, has failed to benefit people with Friedreich's ataxia (FA) in a phase 3 trial conducted at several European centers. The drug is similar to coenzyme Q10, a naturally occurring molecule.

Podcasts Focus on Latest Neuromuscular Research

Scientists at the Neuromuscular Disorders Program at Nationwide Children’s Hospital in Columbus, Ohio, are producing a series of podcasts examining current research in neuromuscular disease.

The series, “This Month in Muscular Dystrophy,” is an opportunity to hear authors of recent publications discuss how their work improves understanding of these diseases, and what it might mean for treatment.

Big Waves, Big Attitude

“Even though I struggle to put a hat on my head or walk up a staircase, I can still operate in 40- to 60-foot waves and provide a service that may save someone’s life.”

Ryan Levinson, 38, lives life to the fullest, and he’s not going to let a disease like facioscapulohumeral muscular dystrophy (FSH) deter him.

DMD Research: New Funding for Imaging Studies

The use of magnetic resonance imaging (MRI) as an assessment tool in boys with Duchenne muscular dystrophy (DMD) is being studied by former MDA grantee Krista Vandenborne, through a $7.5 million grant from the National Institutes of Health (NIH).

The goal of the study is to assess whether MRI technology can be used as a precise, noninvasive measure of muscle tissue, gauging both disease progression and the effectiveness of therapies tested in children with DMD.

Texas Achiever with DMD Turns 50

January 17 was a particularly special day for Tom Mecke. It was his 50th birthday, and he had beaten a pretty long set of odds to get there.

Mecke, a San Antonio, Texas, resident all his life, has Duchenne muscular dystrophy (DMD). He and his parents got the news that he has the disease when he was 6 years old. They also were told he’d probably die before he turned 20.

Caution: Immune Response Seen in DMD Gene Therapy

Unwanted responses by the immune system to dystrophin have been seen in a small, MDA-supported clinical trial of gene therapy for Duchenne muscular dystrophy (DMD)— an unexpected finding, investigators say.

Rather than a setback, the finding is “the beginning of a new way of thinking” about gene therapy, said Jerry Mendell, director of the Center for Gene Therapy at Nationwide Children's and a long-time MDA research grantee and MDA-associated clinician. Mendell was the neurologist on this trial.

DMD/BMD: Taking a Closer Look at Ataluren

PTC Therapeutics, a South Plainfield, N.J., biopharmaceutical company, has announced findings that reflect the company's closer look at a large-scale trial of its experimental drug ataluren.

The additional results, presented April 16 at the American Academy of Neurology  meeting in Toronto, show that trial participants who took the lower dose of ataluren did better on a six-minute walking test than did participants who took the placebo or higher dose.

Luring Away Myostatin Can Boost Muscle Size

ACE031, a laboratory-modified protein developed by Acceleron Pharma of Cambridge, Mass., has shown promise as a therapy to increase muscle mass, based on results of a trial in healthy volunteers. The company will now test it in Duchenne muscular dystrophy (DMD).

More Good News about Exon Skipping

AVI4658, an experimental treatment for patients with Duchenne muscular dystrophy (DMD) caused by certain mutations in the gene for the muscle protein dystrophin, has shown promising results when delivered intravenously to 19 trial participants.

Laid-Off Newsman with FSHD Starts Second Career

Peter Callas Jr. remembers as if it were yesterday the day his father gave him “the F.D.R. talk.”

It was 1973, and Peter Jr., then 13 years old, had just been diagnosed with facioscapulohumeral muscular dystrophy (FSHD).

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