Summary
PROJECT SUMMARY (Project 4: Natural History of MSP1) This proposal’s primary objective is to validate a promising measure of motor function as a future efficacy out- come in a large cohort of patients with multisystem proteinopathy 1 (MSP1) due to a pathogenic missense vari- ant in the valosin-containing protein (VCP) gene. Secondarily, we will establish the temporal course with which different phenotypic manifestations of MSP1 emerge and explore how these impact performance of clinical out- come assessments (COA), including our primary outcome the North Star Assessment for limb girdle-type Dy
