Duchenne Muscular Dystrophy (DMD)

DMD: Drisapersen Outperforms Placebo in Walking Test

The exon-skipping drug drisapersen has shown encouraging results in an international phase 2b trial in boys with Duchenne muscular dystrophy (DMD) caused by specific mutations.

DMD: Eteplirsen Shows Continued Benefit at 74 Weeks; Data To Be Announced at MDA Conference

Eteplirsen, an experimental exon-skipping therapy designed to treat Duchenne muscular dystrophy (DMD) caused by specific mutations in the dystrophin gene, continues to show sustained benefit on walking distance through week 74 of a phase 2b, 12-person study.

Research Briefs: DMD, Leigh Syndrome, MG, Periodic Paralysis, Pompe Disease

Drug development and identifying new leads for possible drug development are in the news for five neuromuscular diseases in MDA’s program.

Government Funding for NMD Research Largely Spared in Continuing Resolution

The news is generally favorable for many important government-funded neuromuscular disease research projects, in the wake of Congress’ recent passage of a continuing resolution funding the government through the end of September. 

Most government operations, except those funded through the full-year appropriations bills, will be maintained at essentially the same level as fiscal year (FY) 2012. (The government's fiscal year begins on Oct. 1 and ends on Sept. 30 of the following year.)

DMD, BMD: Combining Gene Therapy and Stem Cell Transplantation

A therapeutic strategy that combines gene therapy and stem cell transplantation has shown encouraging results in mice with a disorder mimicking Duchenne muscular dystrophy (DMD).

Pompe Disease, DMD: Newborn Screening Proposed

Proposals exploring the feasibility and advisability of implementating newborn screening for two disorders in MDA's program — Duchenne muscular dystrophy and Pompe disease— were presented to a federal advisory committee in a "virtual" meeting Jan. 31 and Feb. 1, 2013.

New Guidelines on Genetic Testing in Children

As scientists learn more about what our DNA can tell us about health and disease, public interest has intensified and genetic testing has become increasingly common. In response, the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) have released new guidelines to address updated technologies and new uses of genetic testing and screening in children.

DMD/BMD: Global Trial Planned of Experimental Drug Ataluren

Trials of the experimental muscular dystrophy drug ataluren showed that the drug was generally well-tolerated and slowed the rate of decline in walking ability, compared to the placebo group.

After consulting with regulatory agencies in Europe and the United States, biopharmaceutical company PTC Therapeutics has decided to move ahead with a global, phase 3 confirmatory study of ataluren. Trial sites will be in the U.S. and at least 10 other countries.

DMD: Which Steroid Regimen Is Best?

Prednisone and other drugs in the corticosteroid family have become standard treatment for Duchenne muscular dystrophy (DMD) in much of the world for almost a decade. In this disorder, they slow the decline of muscle function and prolong walking ability. However, corticosteroids have significant side effects, such as weight gain, bone loss, cataracts and behavior changes.

Strong Community Support Essential to Passage of Critical Muscular Dystrophy Legislation

Note: The MD CARE Act is a critical part of the historic effort to find cures for muscular dystrophies. Watch for articles in the coming weeks that delve further into the remarkable progress attributable to this important legislation.

Pages