CMT Genetics Study Seeks Participants

An international MDA-supported study will identify genetic modifiers of CMT1A and determine additional genetic causes of CMT in general

by Margaret Wahl on October 24, 2011 - 2:30pm

Researchers supported in part by MDA are seeking people with Charcot-Marie-Tooth disease (CMT) to participate in a study to identify genetic modifiers of the type 1A form of CMT (CMT1A) and determine previously unknown genetic causes of CMT.

The study is based at Wayne State University in Detroit, under principal investigator and MDA grantee Michael Shy, with additional U.S. sites in Baltimore; Rochester, N.Y.; Philadelphia; Seattle; and international sites in Australia and London.

MDA and the National Institute of Neurological Disorders and Stroke (NINDS), part of the U.S. National Institutes of Health (NIH), have partnered to support this large-scale effort.

Participants must meet genetic and other criteria

The study has two components. Prospective participants in the Genetic Modifiers of CMT1A component must:

  • have a documented duplication of the PMP22 gene or have signs of CMT consistent with a PMP22 duplication and a close relative with a documented duplication of the PMP22 gene;
  • be at least 13 years old;
  • be seen in person at one of the study sites; and
  • meet other study criteria.

Prospective participants in the New Causes of CMT component of the study, also known as the CMT Exome Project, must:

  • have a demonstrated neuropathy (nerve disease) on nerve conduction studies, or a clinically diagnosed genetic neuropathy;
  • have received negative genetic test results for an MFN2 gene mutation if an "axonal" form of CMT is suspected; and negative results on genetic testing for mutations in the PMP22, MPZ and GJB1 genes if a "demyelinating" form of CMT is suspected; or have signs of CMT and a close relative whose genetic tests have been negative for these mutations;
  • have at least one additional family member willing to participate in the study;
  • be at least 13 years old;
  • be seen in person at one of the study sites; and
  • meet other study criteria.

The investigators also are seeking people without CMT who are at least 13 years old to serve as controls, meaning they will be compared to those with CMT.

To participate in the CMT genetics study

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

United States


Johns Hopkins University, Baltimore
Physicians: Thomas Lloyd, M.D., Ph.D.
Coordinator: Andrea N. Kelley
Phone: (443) 287-0627


Wayne State University, Detroit
Physician: Michael Shy, M.D.
For appointments: Lisa Rowe
Phone: (313) 577-1689

New York

University of Rochester
Physician: David Herrmann, MBBCh
Coordinator: Janet Sowden
Phone: (585) 275-1267


Children's Hospital of Philadelphia
Physician: Richard Finkel, M.D.
Coordinator: Donnette Paris
Phone: (267) 426-7167


University of Pennsylvania, Philadelphia
Physician: Steven Scherer, M.D., Ph.D.
Coordinator: Meryl Candor
Phone: (215) 349-5313


University of Washington, Seattle
Physician: Thomas Bird, M.D.
Coordinator: Corrie Smith, MS, CGC
Phone: (206) 598-3462



The Children's Hospital at Westmead
Investigator: Joshua Burns
Coordinator: Natalie Gabrael
Phone: +61 2 9845 1904

United Kingdom

National Hospital for Neurology and Neurosurgery, London
Physician: Mary Reilly, M.D.
Coordinator and co-investigator: Matilde Laura
Phone: +448451555000 ext 3024

For more details, see Genetics of Charcot-Marie-Tooth (CMT). You also can access this study by entering its number — NCT01193088 — into the search box at

For more information 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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