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The Charcot-Marie-Tooth North American Registry

The Charcot-Marie-Tooth (CMT) Center at Johns Hopkins is now recruiting participants for a new CMT North American Registry.  The following is a summary of information we have about the study and who to contact if you would like to be considered for participation.

Purpose of the Study
Despite many advances in the genetics of inherited disorders, natural history of Charcot-Marie-Tooth disease due to unknown mutations is poorly understood. The CMT North American Registry will provide a centralized registry to document natural history of CMT patients seen in 5 CMT Centers across North America.  Furthermore, the registry will serve as a research tool for identification of novel genes and facilitation of clinical trials.

Participant Eligibility

In order to participate in the study you, or a family member, must meet the following criteria:

  1. You, or a family member, have been affected by Charcot-Marie Tooth Disease.*
  2. You must be between the ages of 13 and 100.
  3. You must be able to make an initial visit to one of the study centers.

*Note: Although there is no fee for participation, neither is there any compensation.  Participants are responsible for transportation to and from the study centers.

Overview of Study Design
If you decide to participate in this study, you will be asked to complete a Family History Questionnaire and a Questionnaire for Affected Individuals.  Our CMT physician will fill out questionnaires on your neurological and physical examinations.  You will sign a separate consent form to release medical records pertaining to CMT.

You may be contacted by the registry staff and invited to participate in additional research studies that will be explained at that time.  This participation is not needed in order to be eligible for the registry and will require a separate statement of consent.  Identifying information will not be released without your written consent. 

Contact Information
If you meet the criteria outlined above and are interested in participating in the study, please contact Andrea Kelley at 443-287-0627.


High Dose Ascorbic Acid Treatment of CMT1A

THIS STUDY IS CLOSED AND IS NO LONGER RECRUITING NEW PATIENTS

Purpose of the Study
The purpose of the study is to evaluate whether high doses of ascorbic acid have any effect on Charcot-Marie-Tooth disease type 1A (CMT1A) and whether or not it should be studied further. Ascorbic acid is also known as vitamin C and has been used and studied extensively for other purposes, but it has never been used to treat CMT1A.

A total of 120 study participants will be enrolled through 3 participating centers: 48 each at Wayne State University (Detroit, MI) and The Johns Hopkins University (Baltimore, MD), and 24 at the University of Rochester (Rochester, NY).

Participant Eligibility
In order to participate in the trial you, or a family member, must meet the following criteria:

  1. You, or a family member, must have been genetically tested.*   The result of the genetic test must have been positive for CMT1A. (If you have been tested and are not sure of the results, the contact person at the study center will help you determine whether or not you have CMT1A.)
  2. You must be between the ages of 13 and 70.
  3. You must not be pregnant.
  4. You must be able to make an initial visit to one of the study centers listed above, and you must be able to return to the study center once every six months during the two-year study period *

*Note: Although there is no fee for participation, neither is there any compensation. The study will not pay for genetic testing and participants are responsible for transportation to and from the study centers.

Overview of Study Design
If you decide to participate in this study, you will be asked to take eight (8) study drug- or placebo capsules every day for two years. After an initial evaluation at the research site, you will return every six months for two years to participate in study visits.

This is a double blind, placebo-controlled trial. That means you will be randomly assigned into one of two groups. One group—80 percent of all participants—will receive the ascorbic acid, and the other group—the remaining 20 percent—will receive the placebo. Neither you nor your study doctor will be told which group you are in. At the end of your participation in the study, you will be asked to guess whether you were taking the ascorbic acid or the placebo. At the end of the trial, when all volunteers have completed the study, you will be told which group you were in.

Contact Information
If you meet the criteria outlined above and are interested in participating in this study at the Johns Hopkins Hospital, please contact Ms. Lora Clawson at 410.614.4346.

 


For additional information about Charcot-Marie Tooth disorders, please visit the Charcot-Marie-Tooth Association website.

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