An international team of researchers from the Inherited Neuropathies Consortium (INC), led by CMTA’s Strategy To Accelerate Research (CMTA-STAR) Advisory Board Member Michael Shy, MD, at the University of Iowa, has successfully reached full enrollment for INC’s CMT2F Natural History Study. This research is tracking how CMT2F progresses over time by measuring changes in function and biomarkers through clinical assessments, blood samples, skin biopsies, and MRI imaging of calf muscle fat fraction.
With CMTA’s support of $302,071, this study is advancing critical knowledge about CMT2F and could help refine outcome measures for future clinical trials. A total of 25 participants have now been enrolled across four sites: the University of Iowa, the University of Rochester (New York), University College London (UK), and Carlo Besta Neurological Institute (Italy). To ensure the study remains fully enrolled through the follow-up period, researchers are seeking one or two additional participants at each study site.
So far, 12 participants have completed their one-year follow-up visits, providing valuable clinical data through assessments like the CMT Exam Score (CMTES), CMT Functional Outcomes Measure (CMT-FOM), and the CMT Health Index (CMT-HI). MRI scans have also been conducted at both time points to measure changes in intramuscular fat accumulation. Additionally, researchers are analyzing biomarker samples from blood and skin biopsies to explore potential correlations between these biological markers and functional changes in individuals with CMT2F.
Become a Partner in CMT Research: Help Strengthen the CMT2F Study
Patients are key partners in accelerating research. If you or someone you know is living with CMT2F, this is an opportunity to make a meaningful impact. By joining this crucial study, you will directly advance our understanding of CMT2F and help researchers refine outcome measures for future clinical trials.
With full enrollment achieved, researchers are seeking one or two additional participants at each study site to ensure the study remains complete through the follow-up period. Your involvement could help unlock new insights into the progression of CMT2F, benefiting the entire community.
Contact the study coordinator at the University of Iowa today: CMTRes@healthcare.uiowa.edu
Together, We Drive Progress
CMTA-STAR’s impact is only possible because of the generosity and participation of our community. This INC study is 100% funded by donors who believe in a future without CMT and made possible by those who step forward to participate in research. Those who make research possible fuel every breakthrough, clinical study, and scientific discovery. Your support accelerates research, drives treatment development, and brings hope to everyone with CMT.
Register With Patients as Partners in Research Today
Not yet registered with CMTA’s Patients as Partners in Research? Sign up today to be among the first to learn about new CMT research opportunities for which you may be eligible. Registration also ensures you receive updates on the latest research news and developments.
Registration is free, and everyone with CMT is invited to participate.
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Published on: April 17, 2025