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Study Description

Information about how different forms of CMT affect children is not readily available because there are not good methods to measure impairment of children with CMT. The purpose of this project is to develop and test such a method and to then test this scale to ensure that it is an effective measurement of impairment of CMT in children, that the children tolerate it well, that different investigators using this method obtain similar results and that changes over time with the scale allow measurement of progression of CMT in the children.

Primary Objective: To develop and test the CMT Peds scale (CMTPedS) in children with CMT in order to refine the scoring for future natural history and therapeutic trials.

Secondary Objective: We propose to test the sensitivity of the CMT Peds Scale in a longitudinal study and compare the CMT Peds Scale with the Children's Quality of Life scale CHQ-PF50.

2000 patients <21 years of age with various forms of CMT will be evaluated at baseline and at subsequent annual follow up visits when possible. This first study release makes available data of n=208 study participants.

  • Study Weblinks:
  • Study Design:
    • Prospective Longitudinal Cohort
  • Study Type:
    • Longitudinal
Authorized Access
Publicly Available Data (Public ftp)
Study Inclusion/Exclusion Criteria
Inclusion Criteria
  1. Children (<21 years of age)
  2. Known or probable inherited neuropathies classified as CMT1, CMT2, or CMT4
  3. Must be enrolled in the INC 6601 (where additional phenotype data are available).

Inclusion Criteria - Controls
  1. Children (<21 years of age) who do not have a peripheral neuropathy, as determined by the investigator.
  2. Person or guardian has understood and signed an IRB approved consent form for the study. Teenagers (13-17 years) must sign an assent form (depending on local ethics committee requirements).

Exclusion Criteria
  1. Known diagnosis of acquired neuropathy including toxic (e. g. medication related neuropathies); metabolic (e.g. diabetic), immune mediated or inflammatory (AIDP or CIDP) polyneuropathies; neuropathy related to leukodystrophy, congenital muscular dystrophy.
  2. Patients with severe general medical conditions
  3. Entirely normal conduction velocities of upper and lower limbs as this suggests that the subject may not have a neuropathy.
Study History

    Study Activated June 18, 2010

Selected publications
Diseases/Traits Related to Study (MeSH terms)
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