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

University of Iowa · with National Institute of Neurological Disorders and Stroke (NINDS), Muscular Dystrophy Association · NCT01193088

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Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Any age listed · All sexes
Healthy volunteers
Accepted
Study type
Observational
Target enrollment
1050
US sites recruiting
18
Study start
May 2010
Record last updated
October 16, 2026

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study 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: Charcot-Marie-Tooth Disease, Type Ia (Disorder); HMSN

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full criteria

Inclusion Criteria

  • Patients:

o Must have demonstrated neuropathy on nerve conduction studies or a clinically diagnosed hereditary neuropathy, in the opinion of the site investigator.

  • Controls:
  • Must be a family member of a CMT patient who is enrolled in the 6602.
  • AND one of the following:
  • Does not have a peripheral neuropathy, in the opinion of the site investigator.
  • OR is suspected to have a peripheral neuropathy, but has not been examined at an INC site.

CMT1A Modifier Study

Inclusion Criteria

  • Patient has a documented PMP22 duplication

AND/OR

  • Patient has a first or second degree relative (parent, child, sibling, half-sibling, aunt, uncle, grandparent, grandchild, niece, or nephew) with a documented PMP22 duplication AND a clear link between that family member and the affected patient AND a phenotype consistent with CMT1A.
  • A clear link is necessary for a second-degree relative. For example, if a grandparent is affected and has a PMP22 duplication, and the parent does not have any signs, symptoms, or electrophysiology consistent with CMT1A, there is no clear link.
  • In cases where clear links are not available, genetic testing is required for the patient or the first degree family member who is not clearly affected.

Exclusion Criteria

  • All Patients: Must not have known neuropathy from a non-genetic source, such as chemotherapies (i.e., Vincristine, Taxol, Cisplatin), diabetes, alcoholism.
  • CMT Exome Project Patients ONLY: Must not have a genetically confirmed form of CMT
  • All Participants: Does not wish to participate or does not sign a consent form.

Recruiting US locations

  • Cedars-Sinai Medical Center

    Los Angeles, CA 90048

    Site contact: Marcela Arenas Sanchez · 800-233-2771 · marcela.arenassanchez@cshs.org

  • Stanford University

    Palo Alto, CA 94304

    Site contact: Michelle Jepsen · mjepsen@stanford.edu

  • University of Colorado Hospital

    Aurora, CO 80045

    Site contact: Study Recruiter · 303-724-4644 · NeuroResearch@CUAnschutz.edu

  • Connecticut Children's Medical Center

    Hartford, CT 06106

    Site contact: Jennifer Twatchtman-Bassett · 860-837-7500 · jtwachtman@connecticutchildrens.org

  • University of Miami

    Miami, FL 33136

    Site contact: Liuba Alonso · lxa2158@med.miami.edu

  • University of Iowa

    Iowa City, IA 52242

    Site contact: Tiffany Grider, MS, CGC · 319-384-6362 · UICMTClinic@uiowa.edu

  • Johns Hopkins University

    Baltimore, MD 21205

    Site contact: Simone Thomas · 410-614-4188 · sthom125@jhmi.edu

  • Harvard/Massachusetts General Hospital

    Boston, MA 02114

    Site contact: Lauren Politica · lpolitica@mgh.harvard.edu

  • University of Michigan

    Ann Arbor, MI 48109

    Site contact: Angela Stovall · 734-647-4787 · astovall@med.umich.edu

  • University of Minnesota

    Maple Grove, MN 55369

    Site contact: Mia Freiberg · freib052@umn.edu

  • University of Rochester

    Rochester, NY 14642

    Site contact: Janet Sowden · 585-275-1267 · janet_sowden@urmc.rochester.edu

  • University of North Carolina

    Chapel Hill, NC 27599

    Site contact: Caroline Summerour · summerourc@neurology.unc.edu

  • Nationwide Children's Hospital

    Columbus, OH 43205

    Site contact: Stephanie Davis · Stephanie.Davis3@nationwidechildrens.org

  • Children's Hospital of Philadelphia

    Philadelphia, PA 19104

    Site contact: Sabrina Yum, MD · 215-590-1719 · Yums@email.chop.edu

  • University of Pennsylvania

    Philadelphia, PA 19104

    Site contact: Daya Stevens · daya.stevens@pennmedicine.upenn.edu

  • St. Jude Children's Research Hospital

    Memphis, TN 38105

    Site contact: Colin Quillivan · 901-595-7708 · Colin.Quillivan@STJUDE.ORG

  • Houston Methodist Hospital

    Houston, TX 77030

    Site contact: Samia Saad · 346.238.2287 · ssaad@houstonmethodist.org

  • Seattle Children's Hospital

    Seattle, WA 98105

    Site contact: Shawna Feely · 206-987-6678 · shawna.feely@seattlechildrens.org

Study contacts (from the official record)

  • Tiffany Grider, MS, CGC · 319-384-6362 · UICMTClinic@uiowa.edu
  • Nicole Kressin, MSN, RN · 319-384-6362 · UICMTClinic@uiowa.edu
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Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New… (NCT01193088) | Bored Studies