LIMB GIRDLE MUSCULAR DYSTROPHIES: P.143 Measuring motor function in LGMD2E: Determining which functional outcomes are the most responsive to change in a 1-year study

Abstract

The development of subtype-specific treatments for limb girdle muscular dystrophies (LGMDs) has accelerated the need for clinical trial readiness specific to each disease. Selecting a responsive outcome measure for a given cohort is critical to the success of a trial. The goal of this study was to assess the ability of functional outcome measures to detect change in LGMD2E over a 1-year time period. Twenty-seven subjects with LGMD2E were recruited and completed testing at baseline and 1-year follow up at Nationwide Children's Hospital outreach community testing clinics.