Providing a Network for Clinical Research in CMT

Individuals with CMT are encouraged to participate in a new international database

Article Highlights:
  • The original CMT North American Database has merged with the global Inherited Neuropathies Consortium Rare Disease Clinical Research Network (INC RDCRN).
  • Participation in the network is open to anyone with CMT. Evaluations are held at several sites in the U.S. and abroad.
  • This article is part of a special Quest feature on CMT called In Focus: Charcot-Marie-Tooth Disease.
by Miriam Davidson on July 1, 2011 - 3:40pm

QUEST Vol. 18, No. 3

The field of Charcot-Marie-Tooth disease (CMT) research is expanding, and people with the disease can help move it forward.

Discovery of the complicated genetics underlying CMT has made it clear that more studies are needed to correlate the progression, symptoms and outward manifestations of the disease with its specific genetic type.

Researchers say that understanding the differences among the various types of CMT will improve the effectiveness of clinical trials and hasten the development of targeted treatments.

Knowing which mutation a person has also could help doctors better understand the variable nature of the disease, predict its likely course, and provide more specific information about medical management, inheritance patterns (for family planning), and other concerns.

With that aim in mind, MDA is partnering with other organizations in the United States and worldwide to establish a network of centers specializing in the diagnosis and treatment of CMT.

While training the next generation of CMT clinical researchers, the centers will collect and record genetic, biologic and other data from people with the disease.

“The goal is to make this an international network of the leading CMT centers where everybody evaluates patients the same way,” says Wayne State neurologist Michael Shy. Shy has received MDA support to establish a CMT clinical research network and registry (see Sorting Out CMT).

CMT database evolves into international network

The new CMT research network is an expansion of the CMT North American Database, which has been collecting information since 2001.

More than 800 people are enrolled in the CMT North American Database, which is housed at Indiana University and funded by MDA and the CMT Association.

The database contains information from people with CMT who were evaluated at these institutions:

  • Wayne State University in Detroit
  • Johns Hopkins University in Baltimore
  • University of Washington in Seattle
  • Children’s Hospital of Philadelphia — University of Pennsylvania
  • Hospital of the University of Pennsylvania in Philadelphia
  • University of Rochester (N.Y.)
  • University of Texas Southwestern, Dallas

As it turns out, MDA was working on its CMT database at the same time as the Office of Rare Diseases Research at the National Institutes of Health (NIH) was working to establish clinical research networks and specialized treatment centers for rare diseases.

One of the rare disease clinical research networks created by the NIH was for inherited neuropathies, the class of diseases to which CMT belongs.

In order to expand the network’s reach and enroll as many people as possible in its database, the North American CMT network is joining forces with the new NIH network.

The seven centers listed above all will be part of the Inherited Neuropathies Consortium Rare Disease Clinical Research Network (INC RDCRN). Additional sites joining or already in the consortium are:

  • Washington University in St. Louis
  • Vanderbilt University in Nashville, Tenn.
  • University of Miami
  • Center for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK
  • Great Ormond Street Hospital for Children, London
  • Children’s Hospital Westmead, Sydney, Australia
  • C. Besta Neurological Institute, Milan, Italy

“We hope the combined registry will provide an international resource for therapeutic trials, gene identification studies and natural history studies, even in the rare types of CMT,” Michael Shy says.

Through the participation of Annie Kennedy, MDA’s senior vice president of advocacy, MDA has taken a leadership role in the formation of the INC RDCRN.

“This has been an extraordinary partnership among MDA, Dr. Shy’s team and NIH’s innovative rare disease research network,” Kennedy says.

“It exemplifies how MDA strives to leverage funding with federal partners to accelerate research progress.”

Participating in the INC RDCRN

Researchers are asking anyone with CMT — whether or not they have been evaluated before — to come to one of the above-mentioned locations to be re-evaluated and have biological samples taken.

MDA will cover the evaluation and collection costs for people registered with the Association who visit an MDA clinic, but not transportation or other travel-related expenses.

Currently, three studies are under way through the INC RDCRN:

  • a natural history study,
  • a search for modifier genes for CMT1A (the most common form of CMT) and for new genes associated with CMT, and
  • validation testing of the CMT pediatric score, a recently developed procedure for measuring CMT progression in children.

For more information on these studies, please go to the Rare Diseases Clinical Research Network, and click on the link for the Inherited Neuropathies Consortium.

Those wishing to stay abreast of developments in these CMT studies may log in to the RDCRN site and join the Patient Contact Registry.

People in the contact registry will receive updates regarding the Inherited Neuropathies Consortium, and may receive information about clinical trials in CMT that come out of this consortium. Those registered will be invited to participate in studies for which they qualify.

Registration is via the Rare Diseases Clinical Research Network website only. Visit the site and click on "Join the RDCRN Contact Registry" for additional details. For information on scheduling a site visit, contact the site coordinators listed below.


United States


Johns Hopkins University, Baltimore
Physicians: Tom Lloyd, MD, and Charlotte Sumner, MD
Coordinator: Andrea Kelley
Phone: (443) 287-0627


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


Washington University, St. Louis
Physician: Bob Baloh, MD
Coordinator: Peggy Allred
Phone: (314) 362-8624

New York

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


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

University of Pennsylvania, Philadelphia
Physician: Steven Scherer, MD, PhD
Coordinator: Meryl Candor
Phone: (215) 349-5313


Vanderbilt University, Memphis
Physician: Jun Li, MD, PhD
Coordinator: Ryan Alexander
Phone: (615) 873-7086


University of Washington, Seattle
Physician: Tom Bird, MD
Coordinator: Corrie Smith
Phone: (206) 598-3462



The Children's Hospital at Westmead, Sydney
Investigator: Josh Burns, PhD
Coordinator: Natalie Gabrael
Phone: +61 2 9845 1904


C. Besta Neurological Institute, Milan
Physician: Davide Pareyson, MD
Coordinator and co-investigator: Chiara Marchesi
Email: +39-02 2394 3001

United Kingdom

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

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