With CMTA support of $165,000, researchers at the University of Iowa, led by CMTA Strategy to Accelerate Research (CMTA-STAR) clinical expert board co-chair Michael Shy, MD, and Robert Piper, PhD, are developing preclinical models to help determine the best time to begin treatment for CMT1A and CMT1E.
CMT1A and CMT1E are both linked to PMP22, a gene essential for healthy peripheral nerve myelin, the protective sheath around the nerve. In CMT1A, an extra copy of PMP22 causes the body to make too much PMP22 protein. In CMT1E, mutations in PMP22 damage peripheral nerve myelin early in life. As therapies targeting PMP22 advance, researchers need to understand when treatment should begin, how much correction is needed, and how to measure whether peripheral nerves are responding.
The Shy and Piper labs will develop mouse models to assess the impact of PMP22 activity throughout disease progression. The goal is to identify when treatment may be most effective and find biomarkers that can signal whether a therapy is working before changes in a person’s physical function can be measured.
