Neurologists Come Together to Tackle Charcot-Marie-Tooth

(From the University of Rochester Medical Center.)
Neurologists around the nation are working together in a nationwide study focusing on Charcot-Marie-Tooth disease, a painful nerve condition that affects more than 100,000 Americans. The team and its Inherited Neuropathies Consortium is supported with $6.25 million through the National Institutes of Health Rare Diseases Clinical Research Network for the next five years.

CMT is one of the most common genetic nerve disorders and is the most common inherited form of neuropathy, but there is no effective treatment.

“This disease can really have a severe impact on a person’s health, yet there just isn’t as much awareness about it as there is for some other conditions,” said neurologist David Herrmann, MBBCh, associate professor in the Department of Neurology at the University of Rochester Medical Center and the lead investigator for the CMT Research Network in Rochester. “Nevertheless, Charcot-Marie-Tooth can be devastating for patients.”

The project, which is based at Wayne State University, brings together experts who are learning more about the disease and searching for new treatments. Herrmann and colleagues are part of a group compiling a database of people in North America who have CMT and who have volunteered to make their information available to researchers. The team is also working to pinpoint more precisely the different genes at work in the disease and how each affects the health of patients; scientists are aware of more than three dozen gene mutations that can cause CMT.

Currently Herrmann and colleagues from Wayne State University and Johns Hopkins are conducting a study in 110 people measuring the effectiveness of high doses of Vitamin C for treating CMT. With the new funding, the expanded team plans to conduct a new study aimed at testing a potential treatment.

In late 2008 neurologists created the first diagnostic guidelines for neuropathy. Herrmann himself is also an expert in the use of skin biopsy to identify sensory neuropathies like CMT and track their progression. He is currently developing a new non-invasive technique that uses a specialized microscope to look beneath the skin to gauge the condition of a person’s nerves in the fingers, as a way to possibly eliminate the need for a biopsy in some patients.

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