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, is studying the natural history of CMT2A 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
Researchers enrolled 43 participants with CMT2A in this study. 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 focused on completing all feasible assessments.
With data collection nearing completion, the project will soon enter 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 CMT2A. 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.
