Tyler Rehbein, MD

Project Title: “Neuromuscular ultrasound as a biomarker to improve clinical trial readiness in Charcot-Marie-Tooth Neuropathies”

Charcot-Marie-Tooth disease (CMT) is a family of genetically diverse,  hereditary neuromuscular diseases that is characterized by progressive weakness and sensory loss which impairs gait and balance, leading to disability, difficulties with activities of daily living, and reduced quality of life. There is currently no FDA-approved therapy for any form of CMT, however, there have been rapid advances in genetic therapies for other forms of neuromuscular disease. 

There is an urgent need for biomarkers that are responsive to the progression of disease across different forms of CMT in order to evaluate the effectiveness of treatments. Dr. Rehbein will study the use of ultrasound as a biomarker. This research may lead to a reliable and cost-effective biomarker that will allow researchers to evaluate the effectiveness of new treatments for CMT diseases.

Dr. Rehbein is an instructor in neurology at the University of Rochester.

This research is funded by the Muscle Study Group and American Brain Foundation, in collaboration with the American Academy of Neurology.