Researchers Studying CMT1B, CMT2A, CMT4A, CMT4C, Others

A multinational study supported by MDA and NINDS will study correlations between mutations and symptoms in four subtypes of Charcot-Marie-Tooth disease

Neurologist Michael Shy examines a child.
by Margaret Wahl on November 10, 2011 - 6:00am

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.

Participants must meet genetic and other criteria

For the natural history study of CMT1B, CMT2A, CMT4A and CMT4C, prospective participants must have:

  • a diagnosis of CMT;
  • a mutation in the MPZ gene (for CMT1B); or
  • a mutation in the MFN2 gene (for CMT2A); or
  • a close relative with one of these mutations and signs and symptoms of CMT; or
  • two mutations in the GDAP1 gene (for CMT4A); or
  • two mutations in the SH3TC2 gene (for CMT4C); and
  • meet other study criteria.

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.

To participate in the CMT natural history study or future studies

Contact the study coordinators listed below for additional information and registration.

United States


Johns Hopkins University, Baltimore
Contact: Andrea N. Kelley
Phone: (443) 287-0627


Wayne State University, Detroit
Contact: Lisa Rowe
Phone: (313) 577-1689

New York

University of Rochester
Contact: Janet Sowden
Phone: (585) 275-1267


Children's Hospital of Philadelphia
Contact: Donnette Paris
Phone: (267) 426-7167

University of Pennsylvania, Philadelphia
Contact: Meryl Candor
Phone: (215) 349-5313



University of Washington, Seattle
Contact: Corrie Smith, MS, CGC
Phone: (206) 598-3462



The Children's Hospital at Westmead
Contact: Natalie Gabrael
Phone: +61 2 9845 1904


C. Besta Neurological Institute, Milan
Contact: Chiara Marchesi
Phone: +39-02 2394 3001

United Kingdom

National Hospital for Neurology and Neurosurgery, London
Contact: Jacky Molyneaux
Phone: +44 207 380 6852

For more information

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

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.

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