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

Study Overview
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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.

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

Conditions
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Charcot Marie Tooth Disease

Participation Criteria
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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.

Ages Eligible for Study
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Maximum Age: 21 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Pediatric patients<br>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?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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 Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Evaluate CMT Pediatric Scale (CMT Peds Scale) in CMT natural history study | 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 |