Pseudohypertrophic Progressive MD (Dystrophin)

Stanford University is collecting samples of blood, muscle and other tissues from people with neuromuscular disorders for use in research

posted on January 7, 2015 - 12:06pm
Ever wondered how someone with a neuromuscular disorder in his or her family might contribute to research efforts in this field?

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

Researchers report making a 10-fold improvement in a technology that permanently repairs flawed dystrophin genes, giving a real boost to this therapeutic strategy

posted on June 29, 2010 - 9:40am
A new generation of molecules — peptide nucleic acid single-stranded oligodeoxynucleotides or PNA-ssODNs — can help cells permanently repair errors in the dystrophin gene, fixing the underlying cause of Duchenne muscular dystrophy (DMD), researchers report. The research group, headed by MDA grantee, Carmen Bertoni, at the University of California Los Angeles (UCLA), published its findings online...

Human testing has begun of ISIS-SOD1-Rx, a compound designed to block production of a toxic protein in people with the SOD1-related form of familial (inherited) ALS

posted on March 5, 2010 - 12:35pm
Isis Pharmaceuticals of Carlsbad, Calif., has begun a phase 1 clinical trial of its experimental compound ISIS-SOD1-Rx in people with familial (inherited) ALS caused by toxic SOD1 protein molecules.

Early results show that when AVI4658 is delivered system-wide through the bloodstreams of boys with DMD, it’s safe and increases dystrophin production.

posted on December 23, 2009 - 3:07pm
Interim results from a human clinical trial of the exon-skipping compound AVI4658 in boys with Duchenne muscular dystrophy (DMD) show that when the compound is delivered to the whole body via the bloodstream — rather than simply injected into a foot muscle as in a previous trial — it appears safe and leads to production of the missing muscle protein dystrophin.

A second ALS lithium trial is ended after an interim analysis revealed no benefit and possible toxicity

posted on November 6, 2009 - 10:00pm
An Italian trial to test the effects of lithium carbonate in amyotrophic lateral sclerosis (ALS) has ended before its originally scheduled completion date because of an unusually high number of dropouts, lack of demonstrated benefit, and concerns about the drug's possible toxicity.

Scientists have identified a protein cluster that patches damaged muscle-fiber membranes in muscular dystrophy.

posted on June 18, 2009 - 5:00pm
Scientists in the United States and Japan have identified a three-protein cluster that reseals damaged muscle-fiber membranes. The findings, published June 5, 2009, in the Journal of Biological Chemistry, could have implications for development of treatments for muscular dystrophies. The Muscle-Fiber Membrane