LGMD-2D / SCARMD2 (Adhalin / Alpha Sarcoglycan)

Genetically corrected human stem cells help mice with a disease resembling limb-girdle MD; cell membrane sealants are being studied in Duchenne and other forms of muscular dystrophy

posted on July 3, 2012 - 11:49am
LGMD2D mice benefit from corrected human stem cells A multinational team of scientists successfully transplanted genetically corrected muscle stem cells derived from people with type 2D limb-girdle muscular dystrophy (LGMD2D) into LGMD2D research mice and saw better muscle function in these mice than in similar mice that didn't receive the cells.

The pace of research can seem unreasonably slow; here are a few reasons why

posted on January 1, 2012 - 3:11pm
QUEST Vol. 19, No. 1
John Porter from the National Institutes of Health likes to start talks by noting, “It’s a great time to be a mouse with a neuromuscular disease.” Exciting research results are regularly reported, where a treatment appears to cure one neuromuscular disease or another in a mouse — yet there are few treatments available today for people with any of these diseases, and only a few treatments in human...

Researchers at six centers are studying possible cardiac benefits of dietary supplement coenzyme Q10 and cardiovascular drug lisinopril in three MD forms

posted on November 14, 2011 - 2:32pm
Researchers at five U.S. and one Canadian center are conducting a clinical trial of the medications coenzyme Q10 and lisinopril to determine their possible beneficial effects on heart function in Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and five forms of limb-girdle muscular dystrophy (LGMD).

Longtime MDA research grantee honored for work in LGMD gene therapy

posted on October 17, 2011 - 3:00am
A team headed by neurologist Jerry Mendell, a longtime MDA research grantee and director of the MDA Clinic at Nationwide Children's Hospital in Columbus, Ohio, has received the prestigious Annals of Neurology prize for an outstanding contribution to clinical neuroscience.

Research items about Friedreich's ataxia, myasthenia gravis, mitochondrial myopathies, type 1 myotonic dystrophy, gene therapy and gene modification

posted on July 7, 2011 - 10:28am
Edison drugs target FA, mitochondrial diseases

The biggest problem at an ER may not be the one you go in with, but the one you encounter there

posted on July 1, 2011 - 4:18pm
QUEST Vol. 18, No. 3
When a medical emergency strikes — and the patient is a person with a neuromuscular disease — it’s not just getting to the emergency room quickly that’s critical. It’s also critical to ensure the ER staff understands the patient’s special needs caused by muscle disease.

Five of six people with limb-girdle muscular dystrophy type 2D produced protein from the new genes

posted on October 29, 2010 - 2:25pm
Results from an MDA-supported, phase 1 study of gene therapy for the type 2D form of limb-girdle muscular dystrophy (LGMD2D) show sustained protein production from the transferred genes in two out of three trial participants six months after injection of the genes into a foot muscle. The new results follow an announcement last year showing protein production from transferred genes in the first...

MDA's research program in 2010

posted on December 31, 2009 - 1:10am
QUEST Vol. 17, No. 1
As MDA's research program heads into 2010, new directions, strategies and partnerships are under way. All have the ultimate goal of moving research through the “pipeline” from basic science discoveries in university laboratories, to biotechnology development, and ultimately into viable therapies that can be prescribed in the clinic. Below are examples of how this “pipeline” research approach is...