TRANSFORM CMT: MRI Study
Research type
Research Study
Full title
Trial Readiness Charcot Marie Tooth disease: MRI Study
IRAS ID
348148
Contact name
Mary Reilly
Contact email
Sponsor organisation
University College London
Clinicaltrials.gov Identifier
183829, EDGE ID; Z6364106/2025/11/16, UCL Data Protection Registration
Duration of Study in the UK
3 years, 11 months, 30 days
Research summary
Charcot-Marie-Tooth disease (CMT) is the most common inherited neuromuscular disorder, affecting an estimated 27,000 individuals in the UK. Despite the absence of approved treatments, several promising therapies are currently at an advanced pre-clinical stage. To successfully translate these therapies into clinical use, it is critical to design trials with outcome measures (OMs) that are sensitive enough to detect treatment efficacy and to ensure the presence of enough capable trial centres across the country.
Current clinical outcome measures used in natural history studies have shown that CMT progresses too slowly to allow for measurable changes over the typical one to two-year duration of a clinical trial. To overcome this challenge, our team at the UCL Queen Square Institute of Neurology (QSION) has developed a quantitative MRI protocol to measure calf muscle fat fraction. This has proven to be the most responsive OM across multiple CMT sub-types and is already being implemented in two ongoing clinical trials.
Although this MRI protocol currently represents the leading OM for CMT trials, it has room for improvement. Advances in technology, particularly through artificial intelligence in image acquisition and analysis, offer the potential to make the protocol more accurate, sensitive, faster, and easier to implement across all MRI scanner manufacturers. However, optimisation and standardisation are required to enable widespread use across multiple trial centres.
A major barrier to CMT clinical trials in the UK is the lack of trial-ready centres. Currently, QSION is the only site actively running trials. This limits patient access and recruitment. To make the UK truly trial-ready, we must map the national CMT landscape, including patient numbers, genetic sub-types, and healthcare burden, and establish a network of geographically distributed, trial-capable centres.
This proposal aims to enhance our MRI OM, understand the UK CMT landscape, and create a robust national trial infrastructure.
REC name
London - South East Research Ethics Committee
REC reference
26/LO/0220
Date of REC Opinion
10 Apr 2026
REC opinion
Further Information Favourable Opinion