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Better CMT outcome measurement is Wayne State University physician's goal
Date:12/7/2011

A Wayne State University physician is seeking a better way to determine the effectiveness of treatments for Charcot-Marie-Tooth disease (CMT), or inherited sensory-motor neuropathy, a disease that afflicts one in 2,500 people.

Sindhu Ramchandren, M.D., assistant professor of neurology in WSU's School of Medicine, believes the current lack of effective treatments for CMT may be because researchers are measuring the wrong outcomes. With a four-year, $661,000 Mentored Career Development Award from the National Institute of Neurological Disorders and Stroke, part of the National Institutes of Health, she is working to develop an outcome measurement that accurately reflects CMT progression in children.

CMT refers to a heterozygous group of diseases caused by mutations in more than 50 genes. One of the most common genetic nerve diseases, it affects more than 120,000 Americans and causes progressive muscle weakness, painful foot deformities and walking difficulty.

As the disease progresses, weakness and muscle atrophy occur in the hands, resulting in difficulty with fine motor skills. Symptoms vary from patient to patient, with pain ranging from mild to severe. Some rely on foot or leg braces or other orthopedic devices to maintain mobility.

The identification of disease-causing genes has made the development of rational therapy a possibility in CMT. However, the lack of outcome measures to assess treatment effects in clinical trials is currently limiting therapeutic advances for CMT.

One of the most recent trials spanned several countries and involved ascorbic acid, or vitamin C, after animal models showed dramatic improvement in functioning.

"That gave a lot of hope to a lot of people," Ramchandren said.

One criticism of that group of trials is that they were rushed and used different outcome measures, but she said the rush was necessary because of the concern that CMT patients might medicate themsel
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Contact: Julie O'Connor
julie.oconnor@wayne.edu
313-577-8845
Wayne State University - Office of the Vice President for Research
Source:Eurekalert

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