Observational Study on Long-Term Outcome Assessments in Limb Girdle Muscular Dystrophy, Myotonic Dystrophy Type 2, and Late-Onset Pompe Disease

What this Trial Is About

Researchers are conducting a 24-month observational study involving up to 1000 participants affected by Limb Girdle Muscular Dystrophy LGMD, Myotonic Dystrophy Type 2 DM2, and late onset Pompe disease LOPD. These disorders share muscle weakness symptoms and affect mobility and other body systems. The study aims to extend previous research to better define key clinical outcome assessments for these rare muscular dystrophies to support future therapy development. Participants will be observed without receiving experimental treatments. The study focuses on evaluating various clinical outcome assessments, including the North Star Assessment for LGMD NSAD, the 100 meter timed test, the Performance of the Upper Limb 2.0 PUL 2.0, spirometry tests, and patient-reported outcome measures like the LGMD-HI questionnaire, PROMIS-57, and Domain Delta. These assessments will be tracked from the start to the end of the 24-month period. During the study, participants will undergo regular evaluations using the above assessments to measure muscle function and respiratory capability. Researchers will collect data through clinical tests and questionnaires to explore the usefulness of these tools in monitoring disease progression. The study will monitor participant safety and the quality of data over the full 24 months, aiming to enhance understanding of muscular dystrophy outcomes.

Long-Term Development of Muscular Dystrophy Outcome Assessments