Glycosylation — "sugar-coating" — of the muscle protein alpha-dystroglycan is known to be a crucial part of muscle function.
Without sufficient glycosylation, alpha-dystroglycan doesn't stick well to other proteins, and an important linkage between muscle fibers and their surroundings is disrupted.
A 40-person phase 2 clinical trial to test the safety and tolerability of Questcor Pharmaceuticals’ H.P. Acthar Gel (Acthar) in people with amyotrophic lateral sclerosis (ALS) has opened at a trial site in Phoenix, Ariz.
In a July 2013 podcast from Nationwide Children’s Hospital in Columbus, Ohio, longtime MDA grantee Jeffrey Chamberlain discusses recent advances in the development of gene therapy (gene transfer) and stem cell therapy (transplantation) for
Treatment with a small molecule called trehalose was associated with slower disease progression and longer life span in mice with a disease mimicking amyotrophic lateral sclerosis (ALS), an MDA-supported research team has reported.
Investigators at the University of Rochester (N.Y.) are seeking participants for a questionnaire-based study of pregnancy and delivery in women with nondystrophic myotonias. No travel is required.
Nondystrophic myotonias included in this study are:
The Northeast Amyotrophic Lateral Sclerosis Consortium (NEALS) is actively seeking participants for a phase 2 clinical trial that will evaluate the safety and tolerability of mexiletine in people with the sporadic form of amyotrophi
The Coordination of Rare Diseases at Sanford (CoRDS) national rare disease registry is now hosting an ataxia patient registry for people with Friedreich's ataxia (FA) or other disorders classified as ataxias (conditions that cause
Researchers at Boston University, supported in part by MDA, say their experimental two-pronged strategy for merosin-deficient congenital muscular dystrophy (MDC1A) was highly successful in a mouse model of this disease and should be further investigated as a potential treatment approach
South San Francisco biotechnology company Cytokinetics announced July 8, 2013, that a computer program error occurred in its phase 2b BENEFIT-ALS clinical trial designed to evaluate the safety, tolerability and potential
Multinational pharmaceutical company GlaxoSmithKline (GSK) has announced that its experimental Duchenne muscular dystrophy (DMD) drug drisapersen has received breakthrough therapy designation from the U.S.