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

NCT ID: NCT01203085

Last Updated: 2025-10-07

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

500 participants

Study Classification

OBSERVATIONAL

Study Start Date

2010-04-30

Study Completion Date

2025-09-30

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Charcot Marie Tooth Disease

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Study Groups

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Pediatric patients

All patients 21 years of age and under who are enrolled in the 6601 study and have undergone the pediatric scale tests.

No interventions assigned to this group

Eligibility Criteria

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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.
Maximum Eligible Age

21 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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National Institute of Neurological Disorders and Stroke (NINDS)

NIH

Sponsor Role collaborator

Muscular Dystrophy Association

OTHER

Sponsor Role collaborator

University of Rochester

OTHER

Sponsor Role collaborator

Children's Hospital of Philadelphia

OTHER

Sponsor Role collaborator

University College London Hospitals

OTHER

Sponsor Role collaborator

Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta

OTHER

Sponsor Role collaborator

Sydney Children's Hospitals Network

OTHER

Sponsor Role collaborator

Nemours Children's Clinic

OTHER

Sponsor Role collaborator

University of Iowa

OTHER

Sponsor Role lead

Responsible Party

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Michael Shy

Professor

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Michael E Shy, MD

Role: PRINCIPAL_INVESTIGATOR

University of Iowa

Locations

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Stanford University

Palo Alto, California, United States

Site Status

University of Connecticut/Connecticut Children's Medical Center

Hartford, Connecticut, United States

Site Status

Nemours Children's Clinic

Orlando, Florida, United States

Site Status

University of Iowa

Iowa City, Iowa, United States

Site Status

University of Michigan

Ann Arbor, Michigan, United States

Site Status

University of Rochester

Rochester, New York, United States

Site Status

University of North Carolina

Chapel Hill, North Carolina, United States

Site Status

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

Site Status

Seattle Children's Hospital

Seattle, Washington, United States

Site Status

Children's Hospital of Westmead

Sydney, New South Wales, Australia

Site Status

The Hospital for Sick Children

Toronto, Ontario, Canada

Site Status

C. Fondazione IRCCS Istituto Neurologico Carlo Besta

Milan, , Italy

Site Status

National Hospital of Neurology and Neurosurgery

London, England, United Kingdom

Site Status

Dubowitz Neuromuscular Centre

London, UK, United Kingdom

Site Status

Countries

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United States Australia Canada Italy United Kingdom

Related Links

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https://www1.rarediseasesnetwork.org/cms/inc

Inherited Neuropathy Consortium Website

Other Identifiers

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1U54NS065712-01

Identifier Type: NIH

Identifier Source: secondary_id

View Link

INC-6603

Identifier Type: -

Identifier Source: org_study_id

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