Muscular Dystrophies

DMD Gene Repair Strategy Takes a Big Step Forward

A new generation of molecules — peptide nucleic acid single-stranded oligodeoxynucleotides or PNA-ssODNs — can help cells permanently repair errors in the dystrophin gene, fixing the underlying cause of Duchenne muscular dystrophy (DMD), researchers report.

The research group, headed by MDA grantee, Carmen Bertoni, at the University of California Los Angeles (UCLA), published its findings online June 23, 2010, in the journal Human Molecular Genetics.

First US Exon-Skipping Trial Opens

Update (Nov. 5, 2012): Results announced in November 2012 showed the drug, now called drisapersen, reached blood levels approximately proportional to the injected dose at two of the three dosage levels tested and was not associated with serious adverse events. See Drisapersen Appears Safe in Non-Walking Boys With DMD.

The Rap on MD: Teen with CMD releases album

Eighteen-year-old Austin Puckett — Puck — is an up-and-coming hip-hop (rap) artist from Waynesville, Ohio, who uses his experiences with congenital muscular dystrophy as inspiration for his musical career.

Puckett has released two albums, “Million Dollar Dreams” and “Still Wishing,” on which he both wrote and performed the lyrics. ReFraze Studios in Dayton handled recording of both. The albums convey upbeat messages about the challenges in Puckett’s life — with none of the violence or vulgarities often associated with rap.

OPMD: Cystamine Strengthens Muscles in Mice

Scientists in the United Kingdom have found that mice carrying a genetic mutation that causes oculpharyngeal muscular dystrophy (OPMD) in humans and showing a disease resembling human OPMD benefited from treatment with a chemical called cystamine, provided in their drinking water.

About the new findings

David Rubinsztein and colleagues at the University of Cambridge announced their findings June 2, 2010, in Science Translational Medicine.

DMD Trial: AVI4658 Increased Dystrophin Production

The biopharmaceutical company AVI BioPharma has announced additional encouraging results from its clinical trial of AVI4658, an experimental treatment for Duchenne muscular dystrophy (DMD).

The new results show that, at higher doses, AVI4658 can result in substantial production of the needed dystrophin protein in muscle fibers.

The company has not yet released results of any tests of muscle function in the 19 children in this trial.

Comedian with EDMD Takes Sacramento by Storm

 What started out as an item on O'Connell's bucket list is now an almost nightly occurance: performing comedy on stage.

“So this woman comes up and tries to give me a dollar. I wanted to say, ‘Hey! Just because I’m in a wheelchair doesn’t mean I’m homeless!’”

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.

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