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The CMT Registry Study

The Charcot-Marie-Tooth (CMT) Center at Johns Hopkins is part of the Inherited Neuropathy Consortium (INC), an integrated group of academic medical centers, patients support organization, and clinical research resources dedicated to conducting clinical research in different forms of CMT and improving the care of patients.  The CMT Center at Johns Hopkins is an active participant in ongoing studies coordinated by the INC, including the CMT registry, as described below.

Purpose of the Study
Despite many advances in the genetics of inherited disorders, the natural history of CMT remains poorly understood. The INC Registry provides a centralized registry to document the natural history of CMT patients seen in CMT Centers across North America, Europe, and Australia. 10,000 patients have been enrolled, making this registry a powerful research tool.  This research has already led to the identification of several novel disease-causing genes and continues to provide vital information that is essential for designing future clinical trails.

Overview of Study Design
If you are interested in participating in this study, you will be provided with more detailed information about the study design and how we will protect your privacy before being enrolled.  The collected data includes information about your sensory deficits and muscular weakness, as well as a short questionnaire that discusses your symptoms and your family history.  Every time you return to the CMT Clinic in the course of the next 10 years, we will do a follow-up evaluation to document the symptom progression over time.  The protocol does not require extra study visits, as we do follow-up evaluations as part of regular yearly clinic visits.  The initial visit requires about 20 minutes of extra time, and then 10 minutes of extra time for each follow up visit.

Contact Information
If you are interested in the study, please contact Simone Thomas by phone at 410-614-4188 or by email at

TRPV-4-Neuropathy National History and Biomarkers Study

Purpose of the Study
To facilitate comprehensive evaluation of patients with TRPV4 neuropathy and TRPV4 skeletal dysplasia, Dr. McCray and Dr. Sumner have developed a TRPV4 Channelopathies Clinic within the framework of the CMT Center. This clinic not only includes the services provided by the CMT Center (physical and occupational therapy, orthotics, genetics counseling, EMG), but also access to evaluation by collaborators from otorhinolaryngology (ENT), ophthalmology, orthopedics, genetics, and vascular neurology.

Overview of Study Design
Patients with confirmed diagnosis of TRPV4 neuropathy are asked to complete a patient questionnaire that discusses common symptoms associated with this condition as well as symptom progression over the past few years. For pediatric patients, a modified questionnaire can be completed by a guardian. In the initial phase, the patients will be asked to fill out the questionnaire once, but a modified follow up questionnaire may be developed in the future to further evaluate disease progression.

Both patients who are already enrolled in INC as well as patients seen at other academic sites with a diagnosis of TRPV4 neuropathy may participate in the study. Enrollment in this study takes approximately 30 minutes to complete. For those who cannot be evaluated at a participating INC clinical center, a virtual enrollment option conducted via telemedicine is available.

If you are interested in participating in the TRPV4 neuropathy study, please contact Simone Thomas by phone 410-614-4188 or e-mail:

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Pediatric Neurology: 410-955-4259
Adult Neurosurgery: 410-955-6406
Pediatric Neurosurgery: 410-955-7337


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