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Massive CMT study aims to map disease progression over five years

NCT ID NCT01193075

Knowledge-focused Sponsor: Michael Shy Source: ClinicalTrials.gov ↗

What the study statuses mean

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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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 25, 2026 · Last updated Oct 16, 2026 · Updated 2 times

Summary

This observational study follows up to 5,000 people with Charcot Marie Tooth disease (CMT) types 1B, 2A, 4A, and 4C over five years. Researchers will measure symptoms, nerve function, and disability using special scales to understand how the disease changes over time. The goal is to improve future clinical trials and care for people with CMT.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this study could provide crucial data to design better treatments and clinical trials for CMT.
What could go wrong
This is an observational study, not testing any treatment. It may not directly lead to new therapies, and results depend on long-term participation.

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 5,000 people

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

Started

Apr 2010

Expected to finish

Dec 2030

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 who present to a participating site and have Charcot Marie Tooth disease (CMT) will be recruited for participation.

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 General Criteria 1\. All patients must agree to take part in the study and sign a consent form. Teenagers (age 13-17 years) must sign an assent form (depending on local ethics committee requirements). Patients: 1. Must have a documented, disease-causing variant(s) in a gene with a known or preliminary association with CMT gene as per Strande et al. 2017 AND consistent with the inheritance pattern associated with the genetic subtype (heterozygous in autosomal dominant, biallelic in autosomal recessive, hemizygous males with X-linked). 2. OR have a first- or second-degree family member (parent, child, sibling, half-sibling, aunt, uncle, grandparent, or grandchild) with a documented disease-causing variant(s) as above AND a clear link between that family member and the affected patient AND a phenotype consistent with the diagnosis. 3. In cases where clear links are not available, genetic confirmation is required. 4. Patients who have a variant(s) of uncertain significance on clinical laboratory reports may still be included if: 5. The variant is categorized as pathogenic or likely pathogenic per the "Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology." (Richards et al., 2015) 6. OR the variant has been found in multiple affected people in a family and has not been found in unaffected family members per "ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification." (Biesecker et al. 2023) 7. OR the principal investigator and the site investigator agree that the variant(s) is (are) likely disease-causing. Controls 1. Must not have a peripheral neuropathy, as determined by the site investigator. 2. Must have understood and signed an IRB approved consent form for the study. Teenagers (age 13-17 years) must sign an assent form (depending on local ethics committee requirements). Exclusion Criteria Patients: 1. Patient does not wish to participate or does not sign a consent form. 2. Patient has a different potential cause for their neuropathy AND no disease-causing variant(s). 3. Deemed inappropriate by the Site PI.

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Conditions

The condition(s) this trial relates to.

Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4C 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

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

    24 sites in 6 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, Milan, Italy

  • Cedars-Sinai Medical Center

    RECRUITING

    Los Angeles, California, 90048, United States

  • Children's Hospital of Philadelphia

    RECRUITING

    Philadelphia, Pennsylvania, 19104, United States

  • Great Ormond Street Hospital

    RECRUITING

    London, England, WC1N 3JH, 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

  • Nationwide Children's Hospital

    RECRUITING

    Columbus, Ohio, 43205, United States

  • Seattle Children's Hospital

    RECRUITING

    Seattle, Washington, 98105, United States

  • St. Jude Children's Research Hospital

    RECRUITING

    Memphis, Tennessee, 38105-3678, United States

  • Stanford University

    RECRUITING

    Palo Alto, California, 94305, United States

  • The Cyprus Institute of Neurology & Genetics

    RECRUITING

    Nicosia, Cyprus

  • The Hospital for Sick Children

    RECRUITING

    Toronto, Ontario, M5G 1E8, Canada

  • University of Colorado Hospital

    RECRUITING

    Aurora, Colorado, 80045, United States

    Contact Email: •••••@•••••

  • University of Connecticut/Connecticut Children's Medical Center

    RECRUITING

    Hartford, Connecticut, 06106, United States

  • 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

    Minneapolis, Minnesota, 55455, 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

  • University of Westmead

    RECRUITING

    Sydney, New South Wales, 2145, Australia

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