Muscular Dystrophies

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.

Newly Developed FSHD Mice Likely To Aid Research

A newly developed research mouse that has the same combination of genetic alterations that causes human facioscapulohumeral muscular dystrophy (FSHD) is expected to change the way research in this disease is conducted, possibly speeding the development of therapies.

Unlike humans, mice normally do not have a DNA structure called a D4Z4 repeat array that, when altered, causes FSHD. Therefore, FSHD research mice have been particularly difficult to create.

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.

Registry Seeks Participants with Congenital Muscle Disorders

An international patientregistry (database) is gathering information about children and adults with any form of congenital muscular dystrophy (CMD), a congenital myasthenic syndrome or a congenital myopathy (congenital muscle disease), with the goals of promoting research and improving care in these disorders.

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.

Researchers Tweak Experimental Therapy for MMD1

Scientists at the biopharmaceutical company Genzyme, working with mice, say they have modified and improved an existing experimental strategy to treat type 1 myotonic muscular dystrophy (MMD1, also known as DM1).

Pages