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6601: Natural History Evaluation of Charcot Marie Tooth Disease

Study Summary

Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.


Charcot Marie Tooth disease (CMT) is an umbrella term that covers any inherited peripheral neuropathy. People with CMT have a problem with the nerves that go to the feet and hands that cause muscle and sensation loss, as well as difficulty with balance. There are at least forty genes that, when mutated, cause CMT. The purpose of this study is to look at the natural history of CMT to see how it changes over time. Particular emphasis will be put on studying people with CMT1B, CMT2A, CMT4A, and CMT4C, though all people with CMT are encouraged to participate. Participants are invited back on a yearly basis to determine how the changes are occurring.

About this Study

This is a longitudinal study of individuals with CMT. Those participating in this study will be invited to be re-evaluated every year. There is no cap on the number of participants who can enroll – all people who meet the inclusion criteria are encouraged to participate.

There are many parts to a clinic visit for this study. At the first visit, you will be assessed for eligibility, be provided informed consent, have minimal demographics taken, and a treatment history.

At each visit, we will also assess your medications and take a medical history. You will be asked to:

  • Have a neurological examination
  • Have nerve conduction studies performed
  • Take a questionnaire regarding your feelings about your health

Targeted Enrollment

To be eligible to participate, you must:

  • Have Charcot Marie Tooth disease (CMT)

You are not eligible to participate if:

  • You have a peripheral neuropathy caused by a different source (i.e. alcohol, chemotherapy, diabetes, etc.)
  • The site investigator does not think it is appropriate for you to participate.

How to participate

In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information to the right to inquire about participation.