JOURNEY_SRP-LGMD-501-NHS
Research type
Research Study
Full title
Journey: A Global, Multicenter, Longitudinal Study of the Natural History of Subjects with Limb Girdle Muscular Dystrophy (LGMD) Type 2E (LGMD2E/R4), Type 2D (LGMD2D/R3),Type 2C (LGMD2C/R5), and Type 2A (LGMD2A/R1).
IRAS ID
286045
Contact name
Jorge Diaz-Manera
Contact email
Sponsor organisation
Sarepta Therapeutics, Inc.
Clinicaltrials.gov Identifier
Duration of Study in the UK
2 years, 6 months, 12 days
Research summary
This is a study of the natural history of subjects with Limb Girdle Muscular Dystrophy (LGMD) type 2E, type 2D,type 2C and type 2A, who are 4 years of age or older, who are managed in routine clinical practice. There is no investigational study drug and the study will be conducted at approx. 30 study sites globally. Subjects will be followed for 3 years.
The limb-girdle muscular dystrophies (LGMDs) are a group of rare, genetically heterogeneous disorders involving progressive weakness and wasting of the shoulder and pelvic girdle musculature. LGMDs are caused by defects in multiple genes encoding for proteins residing within the muscle cells.
There is limited natural history data available for subjects with Limb Girdle Muscular Dystrophy (LGMD) type 2E, type 2D, and type 2C. Therefore, the purpose of this study is to characterize the clinical phenotype and natural disease course. This study will prospectively collect standardized data on skeletal functions, cardiac and pulmonary function, subject and caregivers’ perception of subject’s overall health and quality of life, and laboratory assessments, as well as retrospective information through a medical chart review.
Beyond developing a more comprehensive knowledge of these LGMD subtypes, the information gained from this study is expected to inform future decisions about potential investigational treatment studies such as the identification and selection of clinical outcome assessments and data collection intervals for implementation in clinical studies and to assist in the determination of clinically important changes in clinical outcomes.
REC name
Wales REC 3
REC reference
21/WA/0084
Date of REC Opinion
27 Apr 2021
REC opinion
Further Information Favourable Opinion