6601: Natural History Evaluation of Charcot Marie Tooth Disease

Status: Recruiting

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.

Background

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 below to inquire about participation.

United States

California

  • Cedars-Sinai Medical Center, Los Angeles
    PI: Richard Lewis, MD
    Contact: Tara Jones, MS, LCGC
    Phone: 310-423-4268
    E-mail: tara.jones@cshs.org
     
  • Stanford University, Palo Alto
    PI: John Day, MD, PhD
    Contact: Carly E. Siskind, MS, CGC
    Phone: 650-721-5588
    E-mail: csiskind@stanfordmed.org

Connecticut

Florida

  • Nemours Children's Clinic*, Orlando
    PI: Richard Finkel, MD
    Contact: Aixa Rodriguez
    Phone: 407-567-6202
    E-mail: aixa.rodriguez@nemours.org

    *Note: This location is enrolling up to age 18 only
     
  • University of Miami
    PI: Mario Saporta, MD, PhD
    Contact: Lisa Abreu, MPH
    Phone: 305-243-2550
    E-mail: labreu@med.miami.edu

Iowa

  • University of Iowa, Iowa City
    PI: Michael Shy, MD
    Contact: Shawna Feely, MS, CGC
    Phone: 319-384-6362
    E-mail: UICMTClinic@uiowa.edu

Maryland

  • Johns Hopkins University, Baltimore
    PI: Thomas Lloyd MD, PhD 
    Contact: Simone Thomas
    Phone: 410-614-4188
    E-mail: sthom125@jhmi.edu

Massachusetts

  • Massachusetts General Hospital, Boston
    PI: Reza Seyedsadjadi, MD
    Contact: Natalie Grant
    Phone: 617-726-0230
    E-mail: nrgrant@mgh.harvard.edu

Minnesota

  • University of Minnesota
    PI:  David Walk, MD
    Contact: Krista Mullen
    Phone: 612-626-5153
    E-mail: ness0153@umn.edu

New York

Pennsylvania

  • Children's Hospital of Philadelphia
    PI: Sabrina Yum, MD
    Office: 215-590-1719
    E-mail: yums@email.chop.edu
     
  • University of Pennsylvania, Philadelphia
    PI: Steven Scherer, MD, PhD
    Contact: Diana Lee
    Phone: 215-573-4454
    E-mail: diana.lee@uphs.upenn.edu

International

Australia

  • The Children's Hospital at Westmead, Sydney, NSW
    PI: Joshua Burns, PhD
    Contact: Gabrielle Donlevy, Study Coordinator
    Phone: +61 2 9845 1328
    E-mail: gabrielle.donlevy@health.nsw.gov.au 

Italy

  • C. Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan
    PI: Davide Pareyson, MD
    Co-PI: Isabella Moroni, MD
    Sub-Investigator: Chiara Pisciotta, MD, PhD
    Contact: Daniela Calabrese
    Phone: (+39) 02-2394.3001
    E-mail: Daniela.Calabrese@istituto-besta.it 

United Kingdom

  • National Hospital of Neurology and Neurosurgery, Queens Square
    PI: Mary Reilly, MD
    Contact: Mariola Skorupinska
    Phone: 0044 203 108 7544
    E-mail: Mariola.Skorupinska@uclh.nhs.uk 

Learn More

What is CMT?

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