EPI-743, an experimental compound that helps mitochondria generate energy, is being tested in mitochondrial and metabolic disorders; a trial in Friedreich's ataxia is planned
Update (Jan. 7, 2014): The trial of EPI-743 in Leigh syndrome is no longer accepting new participants.
Longtime MDA grantee Michio Hirano, M.D., talks about the science of treating genetic disorders of energy production
On a Thursday afternoon in July 2012, Michio Hirano, a professor of neurology, was in his office at Columbia University Medical Center, high above Manhattan’s upper west side.
The North American Mitochondrial Disease Consortium seeks to facilitate research by collecting information and biological samples from people with mitochondrial disorders and their family members
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.
The pace of research can seem unreasonably slow; here are a few reasons why
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...
Research items about Friedreich's ataxia, myasthenia gravis, mitochondrial myopathies, type 1 myotonic dystrophy, gene therapy and gene modification
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
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.
Frequently asked questions about cardiac problems in neuromuscular disease
Part 1 of this series (Quest, Vol. 6, No. 2) addressed cardiomyopathy, the degeneration of heart muscle that often occurs in many neuromuscular diseases.