Four grams a day of vitamin C wasn't beneficial in type 1A Charcot-Marie-Tooth disease, but the trial yielded advances in CMT trial design
An MDA-supported trial of high-dose ascorbic acid (vitamin C) in the type 1A form of Charcot-Marie-Tooth disease (CMT) (CMT1A) did not find a benefit for this treatment, although it appeared safe and was generally well-tolerated. There were no serious adverse events judged to be related to the study drug.
Recent developments in Charcot-Marie-Tooth disease include CMT2E research mice, CMT1A stem cells, progress toward CMT1A gene therapy and a new pediatric disability scale
Charcot-Marie-Tooth disease (CMT) is a peripheral nerve disorder that can be caused by mutations in more than 50 different genes. Recent research has resulted in several new tools that will help advance the work of researchers in this field.
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...
An international MDA-supported study will identify genetic modifiers of CMT1A and determine additional genetic causes of CMT in general
Researchers supported in part by MDA are seeking people with Charcot-Marie-Tooth disease (CMT) to participate in a study to identify genetic modifiers of the type 1A form of CMT (CMT1A) and determine previously unknown genetic causes of CMT.
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.
Are myelin and axons 'talking' to each other — and what are they saying?
MDA-supported research in Charcot-Marie-Tooth disease is focused on figuring out what goes wrong at the molecular level in CMT-affected axons or the myelin sheaths that surround them, rather than on attempting to fix the problem directly or preserving nerve function in spite of it. A central theme emerging from the last decade of research is that myelin and axons require constant signals from...