Muscular Dystrophies

DMD Research Briefs: Exon Skipping Advances in Trials, Lab

Exon skipping is an experimental therapeutic strategy in which regions — exons— of a gene are targeted and blocked ("skipped") by laboratory-designed molecules. The goal is that the remaining genetic instructions will lead to production of a shorter but still-functional protein.

DUX4 Protein Not Unique to FSHD-Affected Muscles

Researchers supported in part by MDA have recently found evidence that production of the full-length version of a protein known as DUX4— previously associated exclusively with facioscapulohumeral muscular dystrophy (FSHD)— also can occur in people who don't have the disease.

Doctors Surprised By Which Symptoms Matter Most to Adults with MMD1, FSHD

Traditionally, outcome measures— the observations investigators make in a clinical trial to decide whether one treatment is better than another or better than a placebo — are determined by factors in a disease that are considered important by physicians and other professionals.

But in recent years, there has been increasing interest in finding out what matters most to people with the condition being studied.

Survey Examines Newborn Screening for Neuromuscular Disease

MDA is conducting a survey designed to assess the experiences of parents in the United States whose babies underwent newborn screening at the time of birth, with an eye toward the future possibility of newborn screening tests being recommended for certain neuromuscular diseases in which therapy development is advancing rapidly.

'Gapmer Antisense' Stops Disease in MMD1 Mice

An experimental treatment for type 1 myotonic muscular dystrophy (MMD1, or DM1) has corrected several aspects of the disease in an MMD1 mouse model.

A year after treatment with an experimental antisense oligonucleotide dubbed ASO 445236 ended, positive effects remained apparent in the mice.

Researchers Studying Children's Use of Mobility Devices

If you're the parent of a young child who uses a power mobility device, researchers at the University of British Columbia (UBC) and Sunny Hill Health Centre for Children — both in western Canada — are interested in hearing from you. The study is open to U.S. residents.

PTC Update on the Development of Ataluren in Nonsense-Mutation DMD/BMD

New Jersey biopharmaceutical company PTC Therapeutics recently declared its intention to do whatever it takes — including an additional clinical trial — to seek approval for ataluren (formerly PTC124) as a treatment for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) caused by non

EDMD, LGMD1B: Two More Leads for Treating Cardiomyopathy

Update (Sept. 10, 2012): Information about the potential for serious side effects with temsirolimus and rapamycin was added to this article.

Encouraging Preclinical Results in Membrane Sealant Drug for DMD

Phrixus Pharmaceuticals in Ann Arbor, Mich., reported July 19, 2012, that its experimental drug Carmeseal demonstrated a beneficial effect on the diaphragm (the primary breathing muscle) in mice with a disease resembling Duchenne muscular dystrophy (DMD).

A Closer Look: Extended Eteplirsen Treatment Benefits Walking in DMD

Editor's note (July 30, 2012): This story was revised to include information about the specific mutations being targeted by eteplirsen.