Research News

DMD: Eteplirsen Shows Continued Benefit at 84 Weeks

June 19, 2013

Eteplirsen, an experimental exon-skipping drug designed to treat Duchenne muscular dystrophy (DMD) caused by specific mutations in the dystrophin gene, continues to show sustained benefit on walking

DMD Symptoms Show Up Early and Can Be Measured, Study Finds

June 19, 2013

Careful assessments of motor, cognitive and language function in very young children with Duchenne muscular dystrophy (DMD) show these children lag behind their age-matched peers well before obvious

ALS Briefs: New Findings About Three ALS-Associated Genes

June 13, 2013

Recent research in amyotrophic lateral sclerosis (ALS) includes findings involving the CRMP4, FUS and TDP43 genes. Rare variant in the CRMP4 gene is associated with ALS A study conducted in France

DMD: 'Permanent' Gene Repair Strategy Looks Good in Lab

June 11, 2013

Permanent repair of a faulty gene has long been a goal of researchers working to develop gene-based therapies. But many current gene modification strategies that have entered clinical trials have

Genzyme and MDA Provide Pompe Families with Free Testing

June 10, 2013

Pompe disease (acid maltase deficiency, or GAA deficiency) shares symptoms with several other disorders and, in the absence of specific testing, can sometimes be confused with these other conditions

MD Briefs: Registries Are Still Open

June 07, 2013

FSHD, MMD: Registry remains open The University of Rochester Medical Center in New York state would like to remind people with facioscapulohumeral muscular dystrophy (FSHD) or myotonic muscular

ALS Briefs: Disease Modifier, Growth Factors, Antioxidant Genes

June 06, 2013

Identification of the biological mechanisms that underlie amyotrophic lateral sclerosis (ALS) may provide scientists with important clues about the disease that may be used to identify biomarkers and

New Muscular Dystrophy Drugs Offer Hope

June 04, 2013

Study Suggests Sleep-Disordered Breathing Common in FA

June 04, 2013

Results from a study conducted in Australia show that a nighttime respiratory problem called obstructive sleep apnea occurs more frequently in people with Friedreich's ataxia (FA) than in the general

Exome Sequencing Links New Genes to Sporadic ALS

May 31, 2013

A team of researchers in the U.S. and Australia has shed new light on sporadic amyotrophic lateral sclerosis (ALS), finding that some people with the disorder have gene mutations that may be

MTM: MDA Funds Development of Myotubularin-Based Treatment

May 29, 2013

The Muscular Dystrophy Association has awarded $1,195,762 over two years to biotechnology company Valerion Therapeutics (formerly 4s3 Bioscience) for development of a treatment for myotubular

SBMA: Mixed Results in Study of Clenbuterol

May 29, 2013

A 20-person, open-label pilot trial conducted in Italy and designed to test the safety, tolerability and efficacy of clenbuterol in people with spinal-bulbar muscular atrophy (SBMA, or Kennedy

Moving Toward 'Next-Generation' Gene Therapy

May 22, 2013

Planning for the next generation of gene and stem cell therapies for muscular dystrophies — even as the first generation is still under development — was the theme of a joint symposium sponsored by

More Data Reported from Neuralstem's Phase 1 Stem Cell Trial in ALS

May 22, 2013

Recently announced data from a phase 1 clinical trial of NSI-566 neural stem cells in people with amyotrophic lateral sclerosis (ALS) show that a subset of trial participants had better outcomes than

New MDA/ALS Center Opens at LSU

May 20, 2013

The Muscular Dystrophy Association has designated the MDA clinic at Louisiana State University Health Sciences Center School of Medicine in New Orleans as an MDA/ALS center. This brings the total

FA: RG2833 Is Well-Tolerated and Increases Frataxin Gene Activity

May 17, 2013

Interim results from a phase 1 clinical trial of RG2833 in people with Friedreich’s ataxia (FA) show that the experimental drug is well-tolerated, and that it appears to increase the activity of the

Newborn Screening Recommended for Pompe Disease

May 17, 2013

The Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC) today voted to add Pompe disease (acid maltase deficiency) to a list of diseases that it recommends

Trial Tests 'Master Regulator' in ALS

May 16, 2013

A phase 2 clinical trial to test the experimental drug GM604 in people with amyotrophic lateral sclerosis (ALS) has opened at two trial sites in the United States. Enrollment is expected to begin

Melatonin is Neuroprotective in ALS Mice

May 10, 2013

Melatonin, a naturally occurring hormone produced by the pineal gland, is best known for its role in regulating sleep. Now, results from a study supported in part by MDA show that treatment with the

DMD, BMD: Phase 3 Trial Opens for Stop Codon Read-Through Drug

May 08, 2013

A large-scale, multinational phase 3 trial of the experimental drug ataluren has opened its first trial site, in Cincinnati, Ohio. The trial is recruiting boys with Duchenne muscular dystrophy (DMD)

SMA: Trial Tests Antisense Therapy in Infants

May 07, 2013

A phase 2 clinical trial to test multiple doses of the experimental drug ISIS-SMNRx in infants with spinal muscular atrophy (SMA) has opened at four trial sites in the United States and Canada.

MTM Phone-Based 'Event' Study Now Open

May 03, 2013

The Myotubular Myopathy Event Study, a telephone-based survey, will gather information about MTM-associated events, such as emergency room visits, hospitalizations, medication reactions, and

UPDATE: ACE-031 Clinical Trials in Duchenne MD

May 02, 2013

Biopharmaceutical companies Acceleron Pharma and Shire announced April 21, 2011, that MDA-supported clinical trials of ACE-031 for Duchenne muscular dystrophy (DMD) have been halted. A phase 2, dose-