With CMTA support of $302,071, an international team of researchers from the Inherited Neuropathy Consortium (INC), led by CMTA Strategy To Accelerate Research (CMTA-STAR) Clinical Expert Board co-chair Michael Shy, MD, at the University of Iowa, is studying how CMT2F progresses over time. The study combines clinical outcome assessments with biomarker analyses from blood, skin biopsies, and MRI imaging of calf muscle fat fraction to track disease changes over a 12-month period.
January 2026 Update
The study has completed baseline recruitment of 25 participants across all sites. Follow-up visits are nearing completion, with most participants having completed repeat clinical assessments, MRI scans, and biomarker collection. Participants have also been re-consented to complete additional Patient Global Impression of Change (PGIC) surveys, which capture each participant’s own view of whether their condition has improved, worsened, or stayed the same since joining the study.
Biomarker and skin biopsy analyses are ongoing, including continued evaluation of tau protein in plasma samples (a protein associated with nerve and neuronal integrity that can be measured in blood as a potential marker of nerve injury). As remaining follow-up visits are completed, researchers will focus on correlating biomarker changes with clinical outcome measures to determine which assessments are best used for tracking disease progression and supporting future CMT2F clinical trials.
