Development of Charcot Marie Tooth Disease (CMT) Pediatric Scale for Children With CMT (INC-6603)

October 1, 2025 updated by: Michael Shy, University of Iowa

Development and Validation of CMT Pediatric Scale for Children With Charcot Marie Tooth

The primary goal of this project is to develop and test a Charcot Marie Tooth disease (CMT) Pediatric Scale for use in evaluation in natural history CMT study.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Completed

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Detailed Description

This project is to develop a new CMT Pediatric Scale (CMTPeds) for Children with CMT. Although there is a validated score (the CMTNS) which measures disease severity for CMT, it is not always applicable to children due to their limited ability to relay information about their symptoms. The CMTPeds scale is being developed and validated in order to measure disease severity in children and have outcome measures available for future clinical trials. Children (defined as 21 and under) being evaluated will be asked to perform functional tasks such as using stairs, walking in a hallway, and performing hand function tests. This information will be used to validate the CMTPeds score. It is important to have validated instruments to measure disease severity in childhood so these can be used with clinical treatment trials are available.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Estimated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
500

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

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Study Contact Backup

Study Locations

  • Australia
    • New South Wales
      • Sydney, New South Wales, Australia, 2145
        • Children's Hospital of Westmead
  • Canada
    • Ontario
      • Toronto, Ontario, Canada, M5G 1X8
        • The Hospital for Sick Children
  • Italy
      • Milan, Italy
        • C. Fondazione IRCCS Istituto Neurologico Carlo Besta
  • United Kingdom
    • England
      • London, England, United Kingdom, WC1N 3BG
        • National Hospital of Neurology and Neurosurgery
    • UK
      • London, UK, United Kingdom
        • Dubowitz Neuromuscular Centre
  • United States
    • California
      • Palo Alto, California, United States, 94305
        • Stanford University
    • Connecticut
      • Hartford, Connecticut, United States, 06106
        • University of Connecticut/Connecticut Children's Medical Center
    • Florida
      • Orlando, Florida, United States, 32827
        • Nemours Children's Clinic
    • Iowa
      • Iowa City, Iowa, United States, 52242
        • University of Iowa
    • Michigan
      • Ann Arbor, Michigan, United States, 48109
        • University of Michigan
    • New York
      • Rochester, New York, United States, 14642
        • University of Rochester
    • North Carolina
      • Chapel Hill, North Carolina, United States, 27514
        • University of North Carolina
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Children's Hospital of Philadelphia
    • Washington
      • Seattle, Washington, United States, 98105
        • Seattle Children's Hospital

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

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

No older than 21 years (Child, Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Patients who are 21 years of age and under who are also enrolled in the 6601 study and have performed all tasks to complete the CMT Peds Scale will be recruited for participation. Participation entails allow the information collected in the 6601 study be used for validation in the current study.

Description

Inclusion Criteria:

All patients MUST be seen in person at one of the participating centers for enrollment in this study.

  • Children (< 21 years of age)
  • Known or probable inherited neuropathies classified as CMT1, CMT2, or CMT4

Exclusion Criteria:

  • Known diagnoses of acquired neuropathy including toxic (e. g. medication related neuropathies); metabolic (e.g. diabetic), immune mediated or inflammatory [acute inflammatory demyelinating polyradiculoneuropathy (AIDP) or chronic inflammatory demyelinating polyneuropathy (CIDP)] polyneuropathies; neuropathy related to leukodystrophy, congenital muscular dystrophy; and patients with severe general medical conditions.
  • Entirely normal conduction velocities of upper and lower limbs as this suggests that the subject may not have a neuropathy.

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

  • Observational Models: Case-Only
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
Pediatric patients
All patients 21 years of age and under who are enrolled in the 6601 study and have undergone the pediatric scale tests.

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
CMT Peds Scale Part 1: Symptoms
Time Frame: 1 year
The CMT Peds Scale Symptoms include foot and hand symptoms.
1 year
CMT Peds Score Part 2: Foot and Ankle Involvement
Time Frame: 1 year
Foot and ankle involvement includes foot posture index, range of ankle dorsiflexion, foot drop present/absent, and whether or not difficulty heel/toe walking.
1 year
CMT Peds Scale Part 3: Hand dexterity
Time Frame: 1 year
Hand dexterity involves hand dexterity testing and the nine-hole peg test.
1 year
CMT Peds Scale Part 4: Hand strength
Time Frame: 1 year
Hand strength includes grip strength, thumb-index pinch, and three point pinch.
1 year
CMT Peds Scale Part 5: Foot Strength
Time Frame: 1 year
Foot strength includes the strength of plantar- and dorsi-flexion, eversion, and inversion.
1 year
CMT Peds Score Part 6: Sensation
Time Frame: 1 year
Sensation includes pinprick and vibration sensations.
1 year
CMT Peds Scale Part 7: Balance
Time Frame: 1 year
Balance is assessed by the Bruininks-Oseretsky Test of Motor Proficiency, 2nd Edition (BOT-2).
1 year
CMT Peds Scale Part 8: Motor Function
Time Frame: 1 year
Motor function assessment includes long jump, 10 meter run/walk, stair climb, stair descend, and 6 minute walk test.
1 year

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
Evaluate CMT Pediatric Scale (CMT Peds Scale) in CMT natural history study
Time Frame: 6 months to 1 year
The sections of the CMT Peds Scale which are found to be clinically/functionally useful after one year of analysis will be carried forward for all pediatric patients every 6 months to one year.
6 months to 1 year

Collaborators and Investigators

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

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
University of Iowa

Collaborators

Collaborators

An organization other than the sponsor that provides support for a clinical study. This support may include activities related to funding, design, implementation, data analysis, or reporting.
Children's Hospital of Philadelphia
University College London Hospitals
National Institute of Neurological Disorders and Stroke (NINDS)
University of Rochester
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Nemours Children's Clinic
Sydney Children's Hospitals Network
Muscular Dystrophy Association

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Principal Investigator: Michael E Shy, MD, University of Iowa

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)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
April 1, 2010

Primary Completion (Actual)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
July 1, 2025

Study Completion (Actual)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
September 1, 2025

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
August 9, 2010

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
September 15, 2010

First Posted (Estimated)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
September 16, 2010

Study Record Updates

Last Update Posted (Estimated)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
October 7, 2025

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
October 1, 2025

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
September 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • INC-6603
  • 1U54NS065712-01 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

De-identified RDCRN data is submitted to an ORDR-designated repository. For the current grant cycle, that repository has been dbGaP.

IPD Sharing Time Frame

(For Observational/Longitudinal/Natural History/Epidemiology studies): For the current grant cycle, available data will be released to the repository and will become available to the scientific community one year after publication of planned analyses, or after a period of 5 years from the date when the data were collected, whichever comes first.

IPD Sharing Access Criteria

For the current grant cycle, once de-identified data is posted on dbGaP, a summary of the study is posted and individual participant data is accessed via a request through dbGaP.

IPD Sharing Supporting Information Type

  • STUDY_PROTOCOL
  • SAP
  • ICF
  • ANALYTIC_CODE
  • CSR

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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