With CMTA support of $149,443, researchers at Elpida Therapeutics are investigating muscle fat fraction (MFF) as a biomarker for disease progression in CMT4J, a rare subtype of Charcot-Marie-Tooth disease (CMT). This project involves quantifying MFF in participants’ thigh and calf muscles using advanced MRI imaging.
As muscles atrophy in CMT, healthy muscle tissue is gradually replaced by fat. Muscle fat fraction MRI (MFF-MRI) provides a number that represents disease progression based on the ratio of fat to muscle. The higher the number, the greater the disease progression.
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 work is advancing not only CMT4J research but also the broader effort to bring better tools and treatments to the entire CMT community.
December 2025 Update
Since the study began in July 2024, twelve participants with CMT4J have completed baseline MRI scans, and four participants have completed one-year follow-up scans. These data constitute the first longitudinal (changes over time) MRI dataset tracking muscle fat fraction over a 12-month period in individuals with CMT4J.
Analysis of paired baseline and follow-up scans is being used to understand the rate and pattern of muscle atrophy associated with this CMT subtype and to assess whether changes in MFF reliably reflect disease progression over time.
Establishing MFF as a reproducible and objective measure of disease progression is a crucial step for future clinical trial design in CMT4J, where small patient populations and gradual clinical change limit traditional outcome measures.
