The Charcot-Marie-Tooth Association (CMTA), through its Strategy To Accelerate Research (STAR) initiative, is proud to support groundbreaking research that seeks to deepen our understanding of CMT2A and CMT2F, two axonal forms of Charcot-Marie-Tooth disease (CMT). With CMTA funding support of $302,071, an international team of researchers from the Inherited Neuropathies Consortium (INC), led by Michael Shy, MD, at the University of Iowa, is studying the natural history of these types of CMT to learn how they progress over time.
This crucial research involves measuring changes in various biomarkers, including blood, skin biopsies, and “fat fraction” in calf muscles. Developed in part with CMTA support by Mary Reilly, MD, at University College London, fat fraction MRI is an innovative technique that assesses the ratio of fat to muscle in the calf. As muscle tissue atrophies in CMT, it is replaced by fat, and this MRI technique can detect such changes, correlating them with disease progression in as little as twelve months. This makes fat fraction MRI a powerful biomarker in CMT research, enabling researchers to monitor the disease’s course more accurately and efficiently.
This is a four-year study, with each participant evaluated over two years. The team is currently recruiting patients with CMT2A or CMT2F to join this vital research effort.
Dr. Shy and colleagues have now analyzed data from the 44 participants thus far recruited. One-year follow-up visits have been completed for all but 13 subjects, including assessments with Clinical Outcome Measures (CMT-ES, CMT-FOM, CMT-HI). Biostatistician Professor Tongtong Wu, PhD, at the University of Rochester, is currently analyzing all plasma and skin biomarkers, with the correlation of these biomarkers with Clinical Outcome Assessments (COA) expected to be completed in 2024.
Baseline calf muscle fat fraction MRI studies have been finished, with only 28 one-year follow-up MRI studies remaining, which should be completed by the end of 2024. Researchers will then correlate MRI intramuscular fat fraction changes with 12-month COA changes to finalize this project.
Get Involved: Become a CMTA Patient Partner
Your participation in research is invaluable to progress towards understanding and treating CMT. CMTA’s Patients as Partners in Research program offers a unique opportunity to contribute to critical studies like this one. By joining, you help researchers develop new treatments and improve the quality of life for everyone living with CMT.
If you or someone you know has CMT2A or CMT2F, we especially encourage you to consider participating in this natural history study. Your involvement could lead to breakthroughs that impact you and the entire CMT community.
To learn more about this study and how to participate, visit CMTA Patients as Partners in Research today. Together, we accelerate the research that brings us closer to effective treatments and, ultimately, a cure.
Published: August 29, 2024