A large-scale study, supported in part by MDA, seeks to determine the natural history (general disease course) of four subtypes of Charcot-Marie-Tooth disease (CMT), with particular emphasis on correlations between genetic mutations and symptoms. The four subtypes are CMT1B, CMT2A, CMT4A and CMT4C.
Another goal of the study is to assess how well newly developed scales to measure CMT progression — known as the CMT Pediatric Scale and the Minimal Dataset — measure disease progression.
In addition, the investigators are seeking people with any other form of CMT, whether or not they know their specific subtype, for possible inclusion in later studies.
The natural history study is being jointly funded by MDA and the National Institute of Neurological Disorders and Stroke (NINDS).
Neurologist and molecular geneticist Michael Shy, a longtime MDA research grantee at Wayne State University in Detroit, is the principal investigator on this study, which is expected to enroll 3,000 people.
For the natural history study of CMT1B, CMT2A, CMT4A and CMT4C, prospective participants must have:
For possible enrollment in future CMT studies, prospective participants can have any form of CMT and do not need to know their subtype.
Genetic testing, in general, is not paid for by the study. Exceptions may be made in some cases.
Contact the study coordinators listed below for additional information and registration.
Johns Hopkins University, Baltimore
Wayne State University, Detroit
University of Rochester
Children's Hospital of Philadelphia
University of Pennsylvania, Philadelphia
University of Washington, Seattle
The Children's Hospital at Westmead
C. Besta Neurological Institute, Milan
National Hospital for Neurology and Neurosurgery, London
For more information on this study, see Natural History Evaluation of Charcot-Marie-Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C and Others. You also can access this study by entering its number — NCT01193075 — into the search box at ClinicalTrials.gov.
For more on CMT, see In Focus: Charcot-Marie-Tooth Disease: Streamlined diagnostic procedures, better data collection, a new clinical trials network and new laboratory research are the foundations of MDA's CMT program.