David Herrmann, MD, Professor of Neurology and Pathology and Laboratory Medicine will conduct a “Pilot Study of Mexiletine for Muscle Cramps in Charcot Marie tooth Disease” over the next year. Dr. Herrmann is Unit Chief of the Neuromuscular Unit & Director of the Peripheral Neuropathy Clinics and Cutaneous Innervation Laboratory at the University of Rochester. Dr. Herrmann is also the Principal Investigator in Rochester for the NIH sponsored Inherited Neuropathy Consortium Rare Disease Clinical Research Center. Dr. Herrmann’s research focuses on new gene identification for inherited neuropathies, development of novel neuropathy outcome measures and biomarkers and experimental therapeutics.
Charcot Marie Tooth Disease (CMT) is a family of inherited peripheral neuropathies which affects 1/ 2500 individuals. CMT Type 1A (CMT1A) is an autosomal dominant disorder that accounts for 50% of CMT and manifests in childhood or early adulthood with progressive muscle weakness and atrophy, sensory loss, impaired ambulation, pain and disability. Muscle cramps affect about 85% of adults with CMT1A and impact quality of life and have been identified as an important therapeutic target in CMT1A. Mexiletine is an oral sodium channel blocker that in low doses has shown promise for prevention of muscle cramps, but data is lacking on its effectiveness in CMT1A. The overall goal of this pilot study is to obtain preliminary data on the efficacy and tolerability of low dose Mexiletine for muscle cramps in adults with CMT1A.
Dr. Herrmann received funding to complete this research project through the CTSI Investigator-initiated Pilot Studies for Faculty program. Click here to learn more about this program and how to apply for funding.