With CMTA support of $572,055, 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 understand better how this type of CMT progresses over time. The project focuses on identifying biomarkers in blood, skin biopsies, and MRI imaging of calf muscle fat fraction that could help track disease severity and progression.
Researchers have recruited more than 60 participants for this study and are nearing the completion of follow-up visits, which include comprehensive assessments using Clinical Outcome Assessments (CMT-ES, CMT-FOM, CMT-HI). This analysis aims to determine if changes in biomarkers can predict functional changes, providing critical tools for future clinical trials. Once all follow-ups are finished, researchers will correlate the collected biomarkers with clinical measures and publish their findings.
By transforming how CMT2A is studied, this project is helping to remove barriers to progress in research and treatments. CMTA’s Strategy To Accelerate Research (CMTA-STAR) collaborative model continues to bring hope for treatments and a brighter future for everyone living with CMT2A.
