With CMTA support of $302,071, an international team of researchers from the Inherited Neuropathies Consortium, led by Micheal Shy, MD, at the University of Iowa in Iowa City, IA, is studying the natural history of CMT2F 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.
Thus far, Dr. Shy and colleagues have recruited 24 out of the planned 25 participants, with the University of Rochester in New York, University College London in the UK, and Carlos Besta Neurological Institute in Milan, Italy, completing their recruitment targets. The University of Iowa has nearly completed its recruitment, needing just one more participant to reach its goal of 7 enrolled participants, while the other sites aimed for 6 each. The Carlos Besta Neurological Institute joined the study late, replacing the University of Pennsylvania.
Nine patients have completed their one-year follow-up visits—3 each from Iowa, London, and Rochester. Each participant has undergone Clinical Outcome Measure assessments, including the CMT Exam Score (CMTES), CMT Functional Outcomes Measure (CMT-FOM), and CMT Health Index (CMT-HI), both at baseline and after one year. Additionally, MRI studies of the lower limbs were conducted at both time points to assess intramuscular fat fraction accumulation (IMFA).
Participants have undergone skin biopsies to evaluate Schwann cell gene expression and provided blood samples for protein and microRNA biomarker analysis. This year, researchers began correlating these biomarkers with Clinical Outcome Assessments (COA) alongside further MRI data analysis to evaluate changes in IMFA over one year.
Become a Partner in CMT Research: Help Us Complete Our CMT2F Study
At CMTA, we believe patients are key partners in accelerating research. If you or someone you know is living with CMT2F, this is an opportunity to make a significant impact. By joining this crucial study, you will directly advance our understanding of CMT2F and help researchers find treatments for the CMT2F community.
With only one more participant needed to complete this groundbreaking study, your participation is vital. Your involvement could help unlock new insights into the progression of CMT2F, making a difference for the entire community.
Contact this study’s University of Iowa coordinator at CMTRes@healthcare.uiowa.edu to become the final participant.
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Published On: October 10, 2024