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

N/ACompletedNCT01203085

University of Iowa500 enrolled

Overview

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.

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

OBSERVATIONAL

Enrollment

500

Conditions

Charcot Marie Tooth Disease

Eligibility

Sex: ALLMax age: 21 Years

Medical Language ↔ Plain English

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.

Locations (14)

Stanford University

Palo Alto, California, United States

University of Connecticut/Connecticut Children's Medical Center

Hartford, Connecticut, United States

Nemours Children's Clinic

Outcomes

Primary Outcomes

CMT Peds Scale Part 1: Symptoms

The CMT Peds Scale Symptoms include foot and hand symptoms.

Time frame: 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.

Time frame: 1 year

CMT Peds Scale Part 3: Hand dexterity

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

Time frame: 1 year

CMT Peds Scale Part 4: Hand strength

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

Time frame: 1 year

CMT Peds Scale Part 5: Foot Strength

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

Time frame: 1 year

CMT Peds Score Part 6: Sensation

Sensation includes pinprick and vibration sensations.

Time frame: 1 year

CMT Peds Scale Part 7: Balance

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

Time frame: 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.

Time frame: 1 year

Secondary Outcomes

Data from ClinicalTrials.gov

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