Actively Recruiting

All Genders
Healthy Volunteers
NCT01193088

Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2

Led by University of Iowa · Updated on 2025-10-07

1050

Participants Needed

22

Research Sites

865 weeks

Total Duration

On this page

Sponsors

U

University of Iowa

Lead Sponsor

N

National Institute of Neurological Disorders and Stroke (NINDS)

Collaborating Sponsor

AI-Summary

What this Trial Is About

This project includes two projects. One is looking for new genes that cause Charcot Marie Tooth disease (CMT). The other is looking for genes that do not cause CMT, but may modify the symptoms a person has.

CONDITIONS

Official Title

Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2

Who Can Participate

All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • Participants must agree to take part in the study and sign a consent form.
  • Teenagers aged 13-17 must sign an assent form if required by local ethics committees.
  • For the CMT1A Gene Modifier Study, participants must have a documented PMP22 duplication or a first or second degree relative with a documented PMP22 duplication linked to the participant and consistent with CMT1A symptoms.
  • For the CMT Exome Project, participants must have neuropathy shown by nerve conduction studies or a clinical genetic neuropathy diagnosis.
  • Controls for the CMT Exome Project must be family members of enrolled CMT patients and either have no peripheral neuropathy or suspected neuropathy but not examined at an INC site.
Not Eligible

You will not qualify if you...

  • Patients who do not wish to participate or do not sign a consent form.
  • Patients with genetically confirmed CMT forms other than CMT1A (e.g., mutations causing CMT2A or CMT2D).
  • Patients with neuropathy from non-genetic causes such as chemotherapy, diabetes, or alcoholism will be evaluated separately.

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 22 locations

1

Cedars-Sinai Medical Center

Los Angeles, California, United States, 90048

Actively Recruiting

2

Stanford University

Palo Alto, California, United States, 94304

Actively Recruiting

3

University of Colorado Hospital

Aurora, Colorado, United States, 80045

Actively Recruiting

4

Connecticut Children's Medical Center

Hartford, Connecticut, United States, 06106

Actively Recruiting

5

University of Miami

Miami, Florida, United States, 33136

Actively Recruiting

6

University of Iowa

Iowa City, Iowa, United States, 52242

Actively Recruiting

7

Johns Hopkins University

Baltimore, Maryland, United States, 21205

Actively Recruiting

8

Harvard/Massachusetts General Hospital

Boston, Massachusetts, United States, 02114

Actively Recruiting

9

University of Michigan

Ann Arbor, Michigan, United States, 48109

Actively Recruiting

10

University of Minnesota

Maple Grove, Minnesota, United States, 55369

Actively Recruiting

11

University of Rochester

Rochester, New York, United States, 14642

Actively Recruiting

12

University of North Carolina

Chapel Hill, North Carolina, United States, 27599

Actively Recruiting

13

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States, 19104

Actively Recruiting

14

University of Pennsylvania

Philadelphia, Pennsylvania, United States, 19104

Actively Recruiting

15

St. Jude Children's Research Hospital

Memphis, Tennessee, United States, 38105

Actively Recruiting

16

Houston Methodist Hospital

Houston, Texas, United States, 77030

Actively Recruiting

17

Seattle Children's Hospital

Seattle, Washington, United States, 98105

Actively Recruiting

18

Children's Hospital of Westmead

Sydney, New South Wales, Australia, 2145

Actively Recruiting

19

The Hospital for Sick Children

Toronto, Ontario, Canada, M5G 1X8

Actively Recruiting

20

C. Besta Neurological Institute

Milan, Italy

Actively Recruiting

21

National Hospital of Neurology and Neurosurgery

London, England, United Kingdom, WC1N 3BG

Actively Recruiting

22

Dubowitz Neuromuscular Centre

London, United Kingdom

Actively Recruiting

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Research Team

T

Tiffany Grider, MS, CGC

CONTACT

N

Nicole Kressin, MS, CGC

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

2

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Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2 | DecenTrialz