Rochester Neurologist Takes a Lead Role Tackling Charcot-Marie-Tooth

December 31, 2009

A Meissner corpuscle, a tiny structure in the skin that allows us to feel light touch. David Herrmann monitors these structures to gauge the extent of a patient's neuropathy.

Neurologist David Herrmann, MBBCh, associate professor of Neurology and of Pathology and Laboratory Medicine at the University of Rochester Medical Center, is taking part in a newly funded nationwide study focusing on a condition known as Charcot-Marie-Tooth disease, a painful nerve condition that affects more than 100,000 Americans.

Herrmann, director of the Peripheral Neuropathy Clinic at Strong Memorial Hospital, is part of a team that has been awarded $6.25 million from the National Institutes of Health. The project is based at Wayne State University in Detroit and includes Herrmann and other collaborators from around the world.

The new funding, part of NIH’s Rare Diseases Clinical Research Network, will support the Inherited Neuropathies Consortium for the next five years.

CMT is one of the most common genetic nerve disorders and is the most common inherited form of neuropathy, in which nerves in the body are damaged, causing a variety of symptoms. Most neuropathies include pain, tingling, a burning sensation, or weakness in the feet and legs or hands and arms. Patients with CMT most often have muscle weakness in their feet and hands and have difficulty walking. Many patients go years without knowing the cause of their symptoms. There is no effective treatment for CMT, which is completely disabling for some people.

“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 Herrmann. “Nevertheless, Charcot-Marie-Tooth can be devastating for patients.”

Since the condition is inherited, oftentimes new patients will remember that an older relative had similar symptoms, even though they may not know the term, “Charcot-Marie-Tooth disease.”

The project brings together experts who are learning more about the disease and searching for new treatments. Herrmann and colleagues are part compiling a database of people in North America who have CMT and who have volunteered to make their information available to researchers. The database is sponsored by the Muscular Dystrophy Association and the Charcot-Marie-Tooth Association.

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 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.

“We’re hopeful that the new funding will lead to accelerated development of a treatment for CMT,” said Herrmann. 

Last year, Herrmann helped create the first diagnostic guidelines for neuropathy. He is an expert in the use of skin biopsy to identify neuropathies like CMT and track their progression. He is currently developing a new 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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