Pseudohypertrophic Progressive MD (Duchenne Muscular Dystrophy)

Research Briefs: FA, MG, MM, MMD1, gene therapy

Edison drugs target FA, mitochondrial diseases

DMD Gene Repair Strategy Takes a Big Step Forward

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 June 23, 2010, in the journal Human Molecular Genetics.

ALS SOD1 Trial: A ‘Watershed Moment’

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.

Exon-Skipping Drug Delivers Again

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.

Italian Trial of Lithium in ALS Stopped Early

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.

Three-Protein Repair Cluster Identified

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.