Quest Magazine

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.

ALS TDI: Changes in the Works

In its quarterly Research Update Webcast on May 18, 2010, the ALS Therapy Development Institute (ALS TDI) informed viewers of a "paradigm shift" in TDI research. The changes include the addition of a new mouse model to the Institute's preclinical drug development program and an increased emphasis on the importance of biological indicators called "biomarkers."

 The webinar also addressed the current state of drug development in ALS, and the ways in which ALS TDI hopes to hasten the process.

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.

Pompe Disease: FDA Approves Lumizyme

The U.S. Food and Drug Administration (FDA) has approved U.S. sales of the enzyme-replacement drug Lumizyme, the first treatment in the U.S. specifically for late-onset Pompe disease.

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.

Gene Therapy Success in IBM

Scientists at five U.S. institutions have successfully used gene therapy to improve muscle function in a single human subject with a hereditary form of inclusion-body myositis (IBM) caused by mutations of the GNE gene. Study results were published online March 30, in the Journal of Gene Medicine.

Scholarships for Caregivers

Four $2,500 scholarships — named in honor of a former MDA National Goodwill Ambassador — are being offered by the Rosalynn Carter Institute for Caregiving.  Deadline for applications is June 1.

The scholarships will provide financial assistance to family, professional, or paraprofessional caregivers of any age who are seeking training or education in specific skills, procedures and strategies that lead to more effective care and protect the health and well-being of the caregiver.

SOD1 Versus Other ALS: Apples and Oranges?

Scientists at Northwestern University Feinberg School of Medicine in Chicago have announced new findings showing some forms of familial and nonfamilial ("sporadic") amyotrophic lateral sclerosis (ALS) have commonalities at the molecular level — but that one form of familial ALS may be different.

Pages