With CMTA support of $529,971, an international team of researchers from the Inherited Neuropathy Consortium, led by Michael Shy, MD, at the University of Iowa, are studying the natural history of CMTX1 (aka CMT1X or CMTX) to better understand how this type of CMT progresses over time. The project focuses on identifying biomarkers in blood, skin biopsies, and MRI scans of calf muscle fat fraction (MFF-MRI) that could help track disease severity and progression.
December 2025 Update
The team exceeded the original enrollment target of 60, recruiting 65 with CMTX1. Baseline and one-year follow-up visits have been completed for the majority of participants and include comprehensive Clinical Outcome Assessments (CMT-ES, CMT-FOM, CMT-HI), blood-based biomarkers, skin biopsies, and calf MFF-MRI. Remaining follow-up visits are expected to be completed shortly.
With data collection complete, the project is entering its final phase: full data analysis. The team will analyze the longitudinal changes (changes over time within the same individual) between baseline and one-year follow-up assessments to evaluate how clinical outcome measures relate to changes in biomarkers over time. The team believes the analyses will support the identification of outcome measures and biomarkers that may be useful for future clinical trials in CMTX1. Results from this work are expected to be published in a peer-reviewed journal once data analysis is complete.
By transforming the way CMTX1 is studied, this project is helping to remove barriers to progress in research and treatment. CMTA’s Strategy To Accelerate Research (CMTA-STAR) collaborative model continues to bring hope for treatments and a brighter future for everyone living with this second most common type of CMT.
