Development of Charcot Marie Tooth Disease (CMT) Pediatric Scale for Children With CMT
- Conditions
- Charcot Marie Tooth Disease
- Registration Number
- NCT01203085
- Lead Sponsor
- University of Iowa
- 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.
- Detailed Description
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.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 500
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
- 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.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method CMT Peds Scale Part 8: Motor Function 1 year Motor function assessment includes long jump, 10 meter run/walk, stair climb, stair descend, and 6 minute walk test.
CMT Peds Scale Part 1: Symptoms 1 year The CMT Peds Scale Symptoms include foot and hand symptoms.
CMT Peds Score Part 2: Foot and Ankle Involvement 1 year Foot and ankle involvement includes foot posture index, range of ankle dorsiflexion, foot drop present/absent, and whether or not difficulty heel/toe walking.
CMT Peds Scale Part 3: Hand dexterity 1 year Hand dexterity involves hand dexterity testing and the nine-hole peg test.
CMT Peds Scale Part 4: Hand strength 1 year Hand strength includes grip strength, thumb-index pinch, and three point pinch.
CMT Peds Scale Part 5: Foot Strength 1 year Foot strength includes the strength of plantar- and dorsi-flexion, eversion, and inversion.
CMT Peds Score Part 6: Sensation 1 year Sensation includes pinprick and vibration sensations.
CMT Peds Scale Part 7: Balance 1 year Balance is assessed by the Bruininks-Oseretsky Test of Motor Proficiency, 2nd Edition (BOT-2).
- Secondary Outcome Measures
Name Time Method Evaluate CMT Pediatric Scale (CMT Peds Scale) in CMT natural history study 6 months to 1 year 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.
Trial Locations
- Locations (11)
University of Connecticut/Connecticut Children's Medical Center
🇺🇸Hartford, Connecticut, United States
University of Iowa
🇺🇸Iowa City, Iowa, United States
Stanford University
🇺🇸Palo Alto, California, United States
Dubowitz Neuromuscular Centre
🇬🇧London, UK, United Kingdom
National Hospital of Neurology and Neurosurgery
🇬🇧London, England, United Kingdom
Children's Hospital of Philadelphia
🇺🇸Philadelphia, Pennsylvania, United States
C. Fondazione IRCCS Istituto Neurologico Carlo Besta
🇮🇹Milan, Italy
University of Michigan
🇺🇸Ann Arbor, Michigan, United States
Children's Hospital of Westmead
🇦🇺Sydney, New South Wales, Australia
University of Rochester
🇺🇸Rochester, New York, United States
Nemours Children's Clinic
🇺🇸Orlando, Florida, United States