Creating a Pediatric Scale for Charcot Marie Tooth Disease
Development and Validation of CMT Pediatric Scale for Children With Charcot Marie Tooth
This study is trying to create a new scale to better understand how Charcot Marie Tooth disease affects children by having them do simple tasks to see how severe their symptoms are.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 500 (estimated) |
| Ages | N/A to 21 Years |
| Sex | All |
| Sponsor | University of Iowa Academic / other |
| Locations | 11 sites (Palo Alto, California and 10 other locations) |
| Trial ID | NCT01203085 on ClinicalTrials.gov |
What this trial studies
This project aims to develop and validate a new scale, the Charcot Marie Tooth Pediatric Scale (CMTPeds), specifically designed to assess disease severity in children with Charcot Marie Tooth disease (CMT). The existing CMT Neuropathy Score (CMTNS) is not suitable for children due to their limited ability to communicate symptoms. The CMTPeds scale will involve children performing functional tasks such as walking and hand function tests, which will help in validating the scale for future clinical trials. This validated tool is essential for accurately measuring disease severity in pediatric populations and will support the evaluation of treatment outcomes in future studies.
Who should consider this trial
Good fit: Ideal candidates for this study are children under 21 years of age with known or probable inherited neuropathies classified as CMT1, CMT2, or CMT4.
Not a fit: Patients with acquired neuropathies or entirely normal conduction velocities in upper and lower limbs may not benefit from this study.
Why it matters
Potential benefit: If successful, this scale could provide a reliable method for assessing disease severity in children with CMT, leading to better-targeted treatments.
How similar studies have performed: While there are existing scales for adult CMT patients, the development of a pediatric-specific scale is a novel approach that has not been extensively tested.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
Palo Alto, California and 10 other locations
- Stanford University — Palo Alto, California, United States (Recruiting)
- University of Connecticut/Connecticut Children's Medical Center — Hartford, Connecticut, United States (Recruiting)
- Nemours Children's Clinic — Orlando, Florida, United States (Recruiting)
- University of Iowa — Iowa City, Iowa, United States (Recruiting)
- University of Michigan — Ann Arbor, Michigan, United States (Recruiting)
- University of Rochester — Rochester, New York, United States (Recruiting)
- Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States (Recruiting)
- Children's Hospital of Westmead — Sydney, New South Wales, Australia (Recruiting)
- C. Fondazione IRCCS Istituto Neurologico Carlo Besta — Milan, Italy (Recruiting)
- National Hospital of Neurology and Neurosurgery — London, England, United Kingdom (Recruiting)
- Dubowitz Neuromuscular Centre — London, UK, United Kingdom (Recruiting)
Study contacts
- Principal investigator: Michael E Shy, MD — University of Iowa
- Study coordinator: Shawna M Feely, MS
- Email: Shawna-Feely@uiowa.edu
- Phone: 319-384-6362
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.