Natural History Study for Charcot Marie Tooth Disease

September 14, 2026 updated by: Hereditary Neuropathy Foundation

Global Registry for Inherited Neuropathies Natural History Study for Charcot Marie Tooth Disease

The goal of this Natural History Study for Charcot-Marie-Tooth is to acquire, record, and analyze patient-reported data and associated genetic reports, Electronic Health Records (EHRs) and clinical notes to identify the burden, diagnostic journey, and prevalence of disease that will aid scientists in their work toward finding a cure.

Participants will be asked to complete a Natural History Survey.

Study Overview

Status

Recruiting

Conditions

Study Type

Observational

Enrollment (Estimated)

10000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

This study is open to anyone that has Charcot-Marie-Tooth Disease or other Inherited Neuropathies.

Description

Inclusion Criteria:

Patients will be made aware of the study by HNF and others (referenced above) and invited to participate. Once patients have reviewed and signed electronically the informed consent document, it is attached to their file.

All affected individuals with CMT/IN are eligible to participate in GRIN with proper informed consent.

Children, adolescents and adults with either a confirmed diagnosis or suspected to have CMT/IN are eligible with parent and/or guardian consent.

Individuals that have been clinically diagnosed through family history and/or standard clinical testing (e.g. neuro exam, EMG, NCS) and/or genetically tested or suspected to have CMT/IN (note: many mutations have not been identified yet) are eligible.

Exclusion Criteria:

People that do not have Charcot-Marie-Tooth or other Inherited Neuropathies

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Identify the type of CMT
Time Frame: 156 weeks
Patient-Reported Outcomes depending on individual experience I.e. Genetic testing, clinical observation, EMG, family history.
156 weeks
Disease Symptoms
Time Frame: 156 weeks
Patient-Reported Observations
156 weeks
Impact of symptoms on Activities of Daily Living
Time Frame: 156 weeks
Patient-Reported Observations
156 weeks
Associated Comorbidities
Time Frame: 156 weeks
Patient-Reported Observations
156 weeks

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Hereditary Neuropathy Foundation

Investigators

  • Principal Investigator: Allison Moore, Hereditary Neuropathy Foundation

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

November 1, 2013

Primary Completion (Estimated)

December 31, 2029

Study Completion (Estimated)

December 31, 2029

Study Registration Dates

First Submitted

May 2, 2023

First Submitted That Met QC Criteria

June 12, 2023

First Posted (Actual)

June 15, 2023

Study Record Updates

Last Update Posted (Actual)

September 17, 2026

Last Update Submitted That Met QC Criteria

September 14, 2026

Last Verified

September 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • GRIN1001

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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