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

NCT01203085 | Completed

• 2 other identifiers: INC-66031U54NS065712-01
• Study Type: observational
• Target: 500
• Locations: 5 countries
• Sites: 14

Brief Summary

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.

Conditions

Charcot Marie Tooth Disease

Outcome Measures

Primary Outcomes (8)

• CMT Peds Scale Part 1: Symptoms

  The CMT Peds Scale Symptoms include foot and hand symptoms.

  1 year

• CMT Peds Score Part 2: Foot and Ankle Involvement

  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

  Hand dexterity involves hand dexterity testing and the nine-hole peg test.

  1 year

• CMT Peds Scale Part 4: Hand strength

  Hand strength includes grip strength, thumb-index pinch, and three point pinch.

  1 year

• CMT Peds Scale Part 5: Foot Strength

  Foot strength includes the strength of plantar- and dorsi-flexion, eversion, and inversion.

  1 year

• CMT Peds Score Part 6: Sensation

  Sensation includes pinprick and vibration sensations.

  1 year

• CMT Peds Scale Part 7: Balance

  Balance is assessed by the Bruininks-Oseretsky Test of Motor Proficiency, 2nd Edition (BOT-2).

  1 year

• CMT Peds Scale Part 8: Motor Function

  Motor function assessment includes long jump, 10 meter run/walk, stair climb, stair descend, and 6 minute walk test.

  1 year

Secondary Outcomes (1)

• Evaluate CMT Pediatric Scale (CMT Peds Scale) in CMT natural history study

  6 months to 1 year

Study Arms (1)

Pediatric patients

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

Eligibility Criteria

• Age: Up to 21 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• 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.

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• University of Iowa: lead
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator
• Muscular Dystrophy Association: collaborator
• University of Rochester: collaborator
• Children's Hospital of Philadelphia: collaborator
• University College London Hospitals: collaborator
• Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta: collaborator
• Sydney Children's Hospitals Network: collaborator
• Nemours Children's Clinic: collaborator

Study Sites (14)

Stanford University

Palo Alto, California, 94305, United States

Location

University of Connecticut/Connecticut Children's Medical Center

Hartford, Connecticut, 06106, United States

Location

Nemours Children's Clinic

Orlando, Florida, 32827, United States

Location

University of Iowa

Iowa City, Iowa, 52242, United States

Location

University of Michigan

Ann Arbor, Michigan, 48109, United States

Location

University of Rochester

Rochester, New York, 14642, United States

Location

University of North Carolina

Chapel Hill, North Carolina, 27514, United States

Location

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

Seattle Children's Hospital

Seattle, Washington, 98105, United States

Location

Children's Hospital of Westmead

Sydney, New South Wales, 2145, Australia

Location

The Hospital for Sick Children

Toronto, Ontario, M5G 1X8, Canada

Location

C. Fondazione IRCCS Istituto Neurologico Carlo Besta

Milan, Italy

Location

National Hospital of Neurology and Neurosurgery

London, England, WC1N 3BG, United Kingdom

Location

Dubowitz Neuromuscular Centre

London, UK, United Kingdom

Location

Related Links

• Inherited Neuropathy Consortium Website

MeSH Terms

Conditions

Charcot-Marie-Tooth Disease

Condition Hierarchy (Ancestors)

Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Study Officials

• Michael E Shy, MD

  University of Iowa

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: August 9, 2010
• First Posted: September 16, 2010
• Study Start: April 1, 2010
• Primary Completion: July 1, 2025
• Study Completion: September 1, 2025
• Last Updated: October 7, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF, CSR, ANALYTIC CODE
• 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.
• 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.

Locations

AU (1); US (9); GB (2); CA (1); IT (1)