Recruiting

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

Sponsor:

University of Iowa

Code:

NCT01193088

Conditions

Charcot-Marie-Tooth Disease, Type Ia (Disorder)

HMSN

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

Study Details

Brief summary:

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

Study ID

NCT01193088

Start date

May, 2010

Status verified date

Sep, 2026

Completion date

Dec, 2030

Anticipated

Primary completion date

Dec, 2030

Anticipated

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

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.

Study Design

Enrollment

1050 participants

Anticipated

Interventions and Outcome Measures

Arms

CMT1A

Families/people with genetically defined CMT1A

Genetically undefined CMT

Families/people with genetically undefined CMT with common causes ruled out.

Primary outcome measure

Charcot Marie Tooth disease type 1A (CMT1A) gene modifiers [ Time Frame: once ]
New genetic causes of CMT [ Time Frame: Once ]

Central Contacts and Locations

Central contacts

Tiffany Grider, MS, CGC

319-384-6362 UICMTClinic@uiowa.edu

Nicole Kressin, MSN, RN

319-384-6362 UICMTClinic@uiowa.edu

Locations

Cedars-Sinai Medical Center

Recruiting

Los Angeles, California, United States, 90048

Contacts

Marcela Arenas Sanchez

800-233-2771 marcela.arenassanchez@cshs.org

Principal Investigator:

Robert Baloh, MD, PhD

Stanford University

Recruiting

Palo Alto, California, United States, 94304

Contacts

Michelle Jepsen

mjepsen@stanford.edu

Principal Investigator:

John Day, MD, PhD

University of Colorado Hospital

Recruiting

Aurora, Colorado, United States, 80045

Contacts

Study Recruiter

303-724-4644 NeuroResearch@CUAnschutz.edu

Principal Investigator:

Vera Fridman, MD

Connecticut Children's Medical Center

Recruiting

Hartford, Connecticut, United States, 06106

Contacts

Jennifer Twatchtman-Bassett

860-837-7500 jtwachtman@connecticutchildrens.org

Principal Investigator:

Gyula Acsadi, MD, PhD

University of Miami

Recruiting

Miami, Florida, United States, 33136

Contacts

Liuba Alonso

lxa2158@med.miami.edu

Principal Investigator:

Stephan Zuchner, MD, PhD

University of Iowa

Recruiting

Iowa City, Iowa, United States, 52242

Contacts

Tiffany Grider, MS, CGC

319-384-6362 UICMTClinic@uiowa.edu

Principal Investigator:

Michael E Shy, MD

Johns Hopkins University

Recruiting

Baltimore, Maryland, United States, 21205

Contacts

Simone Thomas

410-614-4188 sthom125@jhmi.edu

Principal Investigator:

Bipasha Mukherjee-Clavin, MD, PhD

Harvard/Massachusetts General Hospital

Recruiting

Boston, Massachusetts, United States, 02114

Contacts

Lauren Politica

lpolitica@mgh.harvard.edu

Principal Investigator:

Reza Seyedsadjadi, MD

University of Michigan

Recruiting

Ann Arbor, Michigan, United States, 48109

Contacts

Angela Stovall

734-647-4787 astovall@med.umich.edu

Principal Investigator:

Brett McCray, MD, PhD

University of Minnesota

Recruiting

Maple Grove, Minnesota, United States, 55369

Contacts

Mia Freiberg

freib052@umn.edu

Principal Investigator:

David Walk, MD

University of Rochester

Recruiting

Rochester, New York, United States, 14642

Contacts

Janet Sowden

585-275-1267 janet_sowden@urmc.rochester.edu

Principal Investigator:

David Herrmann, MD

University of North Carolina

Recruiting

Chapel Hill, North Carolina, United States, 27599

Contacts

Caroline Summerour

summerourc@neurology.unc.edu

Principal Investigator:

Rebecca Traub, MD

Nationwide Children's Hospital

Recruiting

Columbus, Ohio, United States, 43205

Contacts

Stephanie Davis

Stephanie.Davis3@nationwidechildrens.org

Principal Investigator:

Diana Bharucha-Goebel, MD

Children's Hospital of Philadelphia

Recruiting

Philadelphia, Pennsylvania, United States, 19104

Contacts

Sabrina Yum, MD

215-590-1719 Yums@email.chop.edu

Principal Investigator:

Sabrina Yum, MD

University of Pennsylvania

Recruiting

Philadelphia, Pennsylvania, United States, 19104

Contacts

Daya Stevens

daya.stevens@pennmedicine.upenn.edu

Principal Investigator:

Steven Scherer, MD

St. Jude Children's Research Hospital

Recruiting

Memphis, Tennessee, United States, 38105

Contacts

Colin Quillivan

901-595-7708 Colin.Quillivan@STJUDE.ORG

Principal Investigator:

Richard Finkel, MD

Houston Methodist Hospital

Recruiting

Houston, Texas, United States, 77030

Contacts

Samia Saad

346.238.2287 ssaad@houstonmethodist.org

Principal Investigator:

Jun Li, MD, PhD

Seattle Children's Hospital

Recruiting

Seattle, Washington, United States, 98105

Contacts

Shawna Feely

206-987-6678 shawna.feely@seattlechildrens.org

Principal Investigator:

Seth Perlman, MD

The Hospital for Sick Children

Recruiting

Toronto, Ontario, Canada, M5G 1X8

Contacts

Magdalena Lovaglio

416-648-6831 Magdalena.lovaglio@sickkids.ca

Principal Investigator:

Hernan Gonorazky, MD

More Information

Sponsor

University of Iowa

Last update posted

Oct 16, 2026

Last verified

Sep, 2026

Keywords

CMT
CMT1A

Trial information was received from ClinicalTrials.gov and was last updated on 2026-10-23. This information was provided to ClinicalTrials.gov by University of Iowa on 2026-10-16. Recruitment status is synced daily from ClinicalTrials.gov and may not reflect the sponsor's current status. Confirm during your call.