With CMTA support of $302,071, an international team of researchers from the Inherited Neuropathies Consortium, led by Michael Shy, MD, at the University of Iowa, is studying how CMT2F progresses over time. The study tracks changes in function and biomarkers through clinical assessments, blood samples, skin biopsies, and MRI imaging of calf muscle fat fraction.
The study has now fully recruited its 25 participants across four sites: the University of Iowa, the University of Rochester (New York), University College London (UK), and Carlo Besta Neurological Institute (Italy). To account for potential follow-up losses, sites plan to enroll one or two additional participants.
So far, 12 participants have completed their one-year follow-up visits, undergoing a comprehensive set of clinical outcome assessments, including the CMT Exam Score (CMTES), CMT Functional Outcomes Measure (CMT-FOM), and the CMT Health Index (CMT-HI). MRI scans have been conducted at both time points to measure changes in intramuscular fat accumulation.
Biomarker collection is also progressing, with 12 participants completing follow-up blood samples and 11 completing follow-up skin biopsies. Samples are now being sent to the University of Iowa for in-depth analysis. Additionally, a new study amendment introduced Patient Global Impression of Change (PGIC) surveys, which all participants will complete.
With follow-up visits ongoing, the next phase of the study will focus on data analysis. Researchers aim to determine how changes in biomarkers correlate with clinical function over time, helping to define better outcome measures for future CMT2F trials.
