Trial Readiness for CMT1A Version 1.0 12.04.2019
Research type
Research Study
Full title
Investigating Biomarkers for Trial Readiness in Charcot Marie Tooth Disease 1A: a Prospective Cohort Study
IRAS ID
261343
Contact name
Mary Reilly
Contact email
Sponsor organisation
University College London
Clinicaltrials.gov Identifier
Z6364106/2019/03/16 , UCL Data Protection Registration
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
Charcot–Marie–Tooth disease (CMT) is the commonest inherited neuromuscular disorder with a prevalence of approximately 1 in 2500 and CMT1A is the commonest subtype, affecting approximately 50% of all patients who have CMT. It is a condition that starts in the first or second decade of life and progresses slowly throughout life. With clinical therapeutic trials on the horizon, the slow progression of the disease also means that we do not currently have sufficiently sensitive tools and methods to detect significant change over the 12-24 month time period of clinical trials.
The goal of our trial is to identify biomarkers and outcome measures that are responsive across the full spectrum of disease severity in CMT1A. We aim to determine whether MRI-determined lower limb intramuscular fat accumulation correlates over 12 and 24 months with established and new clinical outcome measures (CMTESv2-R, CMTNSv2-R, calf and thigh myometry, ONLS and CMT-FOM), specific neurophysiological assessments, patient reported outcomes (PROs; CMT-HI, SF36 and PGIC) and blood and skin biomarkers (plasma NEFL levels and skin PMP22 mRNA levels).
Forty-five participants with CMT1A and 27 control participants will be enrolled at UK trial site (The National Hospital for Neurology and Neurosurgery) with more participants enrolling at 4 other international collaborating sites. Each participant will attend 6 trial visits (0, 6, 12, 24, 30, 36 months) and each visit will involve collection of clinical data and PROs. Additionally some participants will also be invited to undergo MRI scanning of the lower limbs, blood drawing and have two skin biopsies taken (3mm each) at 3 of those 6 visits (0, 12 and 24 months).
The trial is funded by the NIHR UCLH Biomedical Research Centre, the BMA Foundation for Medical Research and the National Institutes of Health (US).REC name
London - Fulham Research Ethics Committee
REC reference
19/LO/0868
Date of REC Opinion
30 Jul 2019
REC opinion
Further Information Favourable Opinion