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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. ;


Study Design


Related Conditions & MeSH terms


NCT number NCT05989620
Study type Observational
Source Virginia Commonwealth University
Contact Jennifer Raymond
Phone 804-828-6318
Email Jennifer.Raymond@vcuhealth.org
Status Recruiting
Phase
Start date October 18, 2023
Completion date May 1, 2029

See also
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Recruiting NCT04001595 - Global FKRP Registry
Recruiting NCT05230459 - A Study to Evaluate the Safety of AB-1003 (Previously LION-101) in Subjects With Genetic Confirmation of LGMD2I/R9 (Part1) Phase 1/Phase 2
Completed NCT02841267 - A Trial of PF-06252616 in Ambulatory Participants With LGMD2I Phase 1/Phase 2
Active, not recruiting NCT03842878 - Natural History Study of Patients With Limb-Girdle Muscular Dystrophy 2I
Active, not recruiting NCT04800874 - Study of BBP-418 in Patients With LGMD2I Phase 2