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 in Iowa City, IA, is studying the natural history of CMT1B to learn how this type of CMT progresses over time by measuring changes in various biomarkers in blood, skin biopsies, and calf muscle fat fraction.
Researchers have successfully recruited 68 subjects with CMT1B, exceeding the target goal of 60 patients. One-year follow-up visits have been completed for all but 10 subjects, including assessments with Clinical Outcome Measures (CMT-ES, CMT-FOM, CMT-HI).
Biostatistician Professor Tongtong Wu, PhD, at the University of Rochester in Rochester, NY, has collected and analyzed all plasma and skin biomarkers. The correlation of these biomarkers with Clinical Outcome Assessments (COA) is expected to be completed by in 2024.
Baseline calf muscle fat fraction MRI studies have been finished, and only 10 one-year follow-up MRI studies remain, which should be completed by early fall 2024. Researchers will then correlate MRI intramuscular fat fraction changes with 12-month COA changes to finalize the MPZ project.
