The former CMT North American Database which had information on 800 CMT patients has joined forces with the NIH (National Institutes of Health) which is working to establish clinical research networks and specialized treatment centers for rare diseases. One of NIH’s networks is called the Inherited Neuropathies Consortium Rare Disease Clinical Research Network (RDCRN).
Sites that are part of the RDCRN are the CMT Centers of Excellence: Wayne State University in Detroit, Johns Hopkins University in Baltimore, the University of Washington in Seattle, Children’s Hospital of Philadelphia, the Hospital of the University of Pennsylvania in Philadelphia, the University of Rochester, NY, the University of Texas Southwestern, Dallas. Additionally, these facilities are joining the network: Washington University in St. Louis, Vanderbilt University, Nashville, the University of Miami, the Center for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, Children’s Hospital Westmead, Sydney, Australia, C. Besta Neurological Institute, Milan, Italy.
What does all this mean for the CMT patient? Researchers believe that more studies of patients are needed to record progression and symptoms that occur with the specific genetic type. Understanding the differences between the various types can improve the effectiveness of clinical trials and help the development of targeted treatments. Identifying which genetic type a person has helps doctors provide more information about medical management and discuss inheritance patterns for family planning.
Dr. Michael Shy has been instrumental in establishing this international network and in training physicians to evaluate patients the same way. This will lead to more reliable information about how the various types progress and what differences can be seen in the clinical appearance of patients based on type.
So, what’s the job of each of you? Researchers would like everyone with CMT to go to one of the sites listed above for evaluation and to provide biological samples (blood, skin biopsies). These sites are all MDA clinics as well, and MDA will pay for the evaluations and sample collections for all MDA registered patients.
If you go to http://rarediseasesnetwork.epi.usf.edu and click on the link for the Inherited Neuropathies Consortium, you can learn about the current studies, which are: a search for modifier genes for CMT1A, a search for new genes which might cause CMT, and validation testing of the pediatric CMT Neuropathy Score. If you want to stay informed regarding these studies join the Patient Contact Registry. If you join the Patient Registry, you will receive research updates and you might be invited to participate in any clinical trials that grow out of the studies.