Tracking CMT4J from the Inside Out: What MRI Scans Are Showing So Far
With CMTA support of $149,443, researchers at CMTA Strategy To Accelerate Research (CMTA-STAR) Alliance Partner Elpida Therapeutics are investigating muscle fat fraction (MFF) as a biomarker for disease progression in CMT4J, a rare recessive type of CMT. This project involves quantifying MFF in participants’ thigh and calf muscles using advanced MRI imaging.
The study is off to a strong start. Since it began in July 2024, six people with CMT4J have completed their first round of MRI scans. These scans are designed to measure how much fat is present inside leg muscles. In CMT, as muscles become weaker and atrophy over time, the healthy muscle tissue is replaced by fat. The ratio of fat to muscle, called the muscle fat fraction, may help researchers understand how the disease is progressing and how severe it is.
By tracking muscle fat fraction changes over time, the team hopes to identify patterns that could support the development of future treatments and provide the kind of data the FDA looks for when evaluating new therapies. This research could benefit not just people with CMT4J, but others across the broader CMT community as well.
This project is part of a shared mission to improve clinical readiness for rarer types of CMT. Because CMT4J progresses rapidly, finding sensitive, quantitative biomarkers is especially critical for designing future trials. Muscle fat fraction could offer one such tool: a non-invasive, repeatable measure that reflects real changes in disease severity. Similar MRI-based approaches are already being used in CMTA-supported studies for CMT1A, helping researchers refine outcome measures that translate directly into clinical trial readiness. As the CMT4J study continues, Elpida and CMTA-STAR are working together to turn imaging data into actionable insight.
Become a Partner in CMT Research: Help Advance the CMT4J Study
Patients are key partners in accelerating research. If you or someone you know is living with CMT4J, this is a chance to make a meaningful impact. By joining this active study, you can help researchers better understand how CMT4J progresses and support future clinical trials.
The study is actively enrolling, and researchers are looking for a few more participants to complete the next phase.
See if this opportunity is right for you.
Together, We Drive Progress
CMTA-STAR’s impact is only possible because of the generosity and participation of our community. This INC study is 100% funded by donors who believe in a future without CMT and made possible by those who step forward to participate in research. Those who make research possible fuel every breakthrough, clinical study, and scientific discovery. Your support accelerates research, drives treatment development, and brings hope to everyone with CMT.
Register With Patients as Partners in Research Today
Not yet registered with CMTA’s Patients as Partners in Research? Sign up today to be among the first to learn about new CMT research opportunities for which you may be eligible. Registration also ensures you receive updates on the latest research news and developments.
Registration is free, and everyone with CMT is invited to participate.
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Published on: June 30, 2025