LGMD2I Clinical Trial
Official title:
Long-Term Development of Muscular Dystrophy Outcome Assessments (GRASP-01-005)
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).
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. ;
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| 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 |