Long-Term Development of Muscular Dystrophy Outcome Assessments — GRASP-01-005  

LGMD2I Clinical Trial

Official title: Long-Term Development of Muscular Dystrophy Outcome Assessments (GRASP-01-005)

Status Active, not recruiting

Clinical Trial Summary

This is a 24-month, observational study of up to 1000 participants with Limb Girdle Muscular Dystrophy (LGMD), Myotonic Dystrophy Type 2 (DM2), and late onset Pompe disease (LOPD).

Clinical Trial Description

Limb Girdle Muscular Dystrophy (LGMD) comprise a group of disorders made up of over 30 mutations which share a common phenotype of progressive weakness of the shoulder and hip girdle muscles. While the individual genetic mutations are rare, as a cohort, LGMDs are one of the four most common muscular dystrophies. Myotonic Dystrophy Type 2 (DM2) is a more recently discovered, rare type of myotonic dystrophy. DM2 is inherited in an autosomal dominant pattern and is caused by an unstable CCTG expansion. DM2 affects the muscles and other body systems (e.g. heart and eyes). Pompe disease is a rare, multisystemic, hereditary disease which is caused by pathogenic variations in the GAA gene. Late onset Pompe disease (LOPD) refers to cases in which hypertrophic cardiomyopathy did not manifest or was not diagnosed at or under the age of 1 year. LOPD is characterized by skeletal muscle weakness which causes mobility problems and impacts the respiratory system. The overall goal of this project is to extend prior observational studies conducted within the GRASP LGMD network to define the key phenotypes as measured by standard clinical outcome assessments (COAs) for multiple rare types of muscular dystrophy to hasten therapeutic development. ;

Related Conditions & MeSH terms

• LGMD2B
• LGMD2E
• LGMD2I
• Muscular Dystrophies

• NCT number: NCT05989620
• Study type: Observational
• Source: Virginia Commonwealth University
• Status: Active, not recruiting
• Start date: October 18, 2023
• Completion date: May 1, 2029