Mitochondrial Myopathy

$13.6 Million in New MDA Grants Promote Understanding, Treatment of Neuromuscular Diseases

The Muscular Dystrophy Association has awarded 44 new grants totaling $13.6 million to advance the understanding and treatment of neuromuscular diseases. The new grants, most of which took effect Feb. 1, encompass a range of diseases covered by MDA’s research program, and they support innovative approaches to basic research and new drug development.

In addition to addressing 16 specific neuromuscular diseases under MDA’s umbrella, the grants also fund research into muscular dystrophy in general, and research into muscle physiology related to neuromuscular disease.

Mitochondrial Myopathies — Eric Schon, Ph.D.

Eric Schon, professor of neurology at the College of Physicians & Surgeons of Columbia University in New York, was awarded an MDA research grant totaling $405,000 over a period of three years to develop strategies for treatment of mitochondrial myopathies.

Friedreich’s Ataxia: Drug Enters Phase 2b Clinical Trial

Edison Pharmaceuticals has launched a phase 2b clinical trial of its experimental drug EPI-743 in adults with Friedreich's ataxia (FA) to assess whether the drug has positive effects on visual function, neurological and neuromuscular function, and disease-associated biomarkers.

Help in the Hurricane: How Social Media Rescued a Man with Mitochondrial Myopathy

“As you all know, being the creative type that I am, I love do-it-yourself projects … However, I found myself in the middle of a rather unusual project, which involved a lot of creative ‘thinking outside of the box,’ and it was more than just a do-it-yourself. It was more of a ‘do it ourselves’ project. And we did it. Successfully. Here’s the story of how we helped Nick Dupree.”

Experimental Drug Being Tested in Mitochondrial and Metabolic Disorders, FA

Paralympian with Mitochondrial Myopathy Swims in London

Update (Oct. 16, 2012): Joe Wise placed fifth in the 400-meter freestyle at the London Paralympic Games. Watch an interview with Joe to learn more about his experiences at the Paralympics.

MDA Commits $10.7 Million to Neuromuscular Disease Research

The Muscular Dystrophy Association has awarded 33 new grants totaling $10,684,481 to fund research projects focused on uncovering the causes of, and developing therapies for, neuromuscular disease.

MDA's Board of Directors reviewed and approved the new grants based on recommendations from the Association's Scientific and Medical Advisory Committees, and the grants took effect Aug. 1.

Mitochondrial Disease Registry Seeks Participants

If you or someone in your family has or is suspected of having a mitochondrial myopathy or other disorder of the mitochondria, the North American Mitochondrial Disease Consortium (NAMDC) would like to hear from you.

Mito. Myopathy — Michio Hirano, M.D.

MDA awarded a research grant totaling $398,532 over three years to Michio Hirano, professor of neurology and chief of the neuromuscular division at Columbia University Medical Center in New York. The funds will help support Hirano’s study of “molecular bypass therapy” for a mitochondrial myopathy called thymidine kinase 2 (TK2) deficiency.

Mito. Myopathy - Carlos Moraes

MDA awarded a grant totaling $363,672 to Carlos Moraes, professor of neurology at the University of Miami School of Medicine, to study the effects generated by an increase in functional mitochondria (the "energy factories" in cells) in mitochondrial myopathy.