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Scientists hunt for hidden genes behind nerve disease severity

NCT ID NCT01193088

Knowledge-focused Sponsor: University of Iowa Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study aims to find new genes that cause Charcot-Marie-Tooth disease (CMT) and discover why symptoms differ among people with the same genetic change. Researchers will analyze DNA from up to 1,050 participants to identify genetic modifiers and unknown causes. The goal is to better understand the disease, not to test a treatment.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 1,050 people

The number the study aims to enrol. It can still change while the study runs.

Started

May 2010

Expected to finish

Dec 2026

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Patients participating in Inherited Neuropathies Consortium (INC)-6601 and meeting eligibility criteria for this study will be recruited.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: All patients must agree to take part in the study and sign a consent form. A teenager (age 13-17 years) considering enrolling must agree to take part in the study and sign an assent form (depending on local ethics committee requirements). Additional inclusion criteria are described below. Inclusion Criteria: CMT1A Gene Modifier Study Patients must have at least one of the following: 1. Patient has a documented PMP22 duplication. AND/OR 2. 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. i. 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. ii. 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. Inclusion Criteria - Patients for CMT Exome Project a. Patient has demonstrated neuropathy on nerve conduction studies or clinically diagnosed genetic neuropathy, in the opinion of the investigator or genetic counsellor. Inclusion Criteria - Controls for CMT Exome Project 1. Person is a family member of a CMT patient who is enrolled in the CMT Exome Project. AND one of the following: 2. Person does not have a peripheral neuropathy, in the opinion of the investigator or genetic counsellor. OR 3. Person is suspected to have a peripheral neuropathy, but has not been examined at an INC site. Exclusion Criteria 1. Patient does not wish to participate or does not sign a consent form. 2. For CMT Exome Project, patient has a genetically confirmed form of CMT (i.e. mutation in MFN2 causing CMT2A, mutation in GARS causing CMT2D, etc.). 3. Patients with known neuropathy from a non-genetic source, such as chemotherapies (i.e. Vincristine, Taxol, Cisplatin), diabetes, alcoholism will be evaluated independently so that genetic contributions to their effects on CMT1A phenotypes can also be analyzed.

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Conditions

The condition(s) this trial relates to.

Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 1A hereditary motor and sensory neuropathy

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Charcot-Marie-Tooth disease, type IA (disorder) HMSN

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The study's own enquiry address

    This study publishes an address for enquiries. See it below .

  2. The places running it

    22 sites in 5 countries. The list below names each one and where it is.

  3. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  4. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Study contacts

  • Contact

    Email: •••••@•••••

  • Contact

    Email: •••••@•••••

Locations

  • C. Besta Neurological Institute

    RECRUITING

    Milan, Italy

  • Cedars-Sinai Medical Center

    RECRUITING

    Los Angeles, California, 90048, United States

  • Children's Hospital of Philadelphia

    RECRUITING

    Philadelphia, Pennsylvania, 19104, United States

  • Children's Hospital of Westmead

    RECRUITING

    Sydney, New South Wales, 2145, Australia

  • Connecticut Children's Medical Center

    RECRUITING

    Hartford, Connecticut, 06106, United States

  • Dubowitz Neuromuscular Centre

    RECRUITING

    London, United Kingdom

  • Harvard/Massachusetts General Hospital

    RECRUITING

    Boston, Massachusetts, 02114, United States

  • Houston Methodist Hospital

    RECRUITING

    Houston, Texas, 77030, United States

  • Johns Hopkins University

    RECRUITING

    Baltimore, Maryland, 21205, United States

  • National Hospital of Neurology and Neurosurgery

    RECRUITING

    London, England, WC1N 3BG, United Kingdom

  • Seattle Children's Hospital

    RECRUITING

    Seattle, Washington, 98105, United States

  • St. Jude Children's Research Hospital

    RECRUITING

    Memphis, Tennessee, 38105, United States

  • Stanford University

    RECRUITING

    Palo Alto, California, 94304, United States

  • The Hospital for Sick Children

    RECRUITING

    Toronto, Ontario, M5G 1X8, Canada

  • University of Colorado Hospital

    RECRUITING

    Aurora, Colorado, 80045, United States

    Contact Email: •••••@•••••

  • University of Iowa

    RECRUITING

    Iowa City, Iowa, 52242, United States

    Contact Email: •••••@•••••

  • University of Miami

    RECRUITING

    Miami, Florida, 33136, United States

  • University of Michigan

    RECRUITING

    Ann Arbor, Michigan, 48109, United States

  • University of Minnesota

    RECRUITING

    Maple Grove, Minnesota, 55369, United States

  • University of North Carolina

    RECRUITING

    Chapel Hill, North Carolina, 27599, United States

  • University of Pennsylvania

    RECRUITING

    Philadelphia, Pennsylvania, 19104, United States

  • University of Rochester

    RECRUITING

    Rochester, New York, 14642, United States