A Study of the Natural History of Participants With LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, and LGMD2A/R1 ≥ 4 Years of Age, Who Are Managed in Routine Clinical Practice
- Conditions
- Limb-girdle Muscular Dystrophy
- Registration Number
- NCT04475926
- Lead Sponsor
- Sarepta Therapeutics, Inc.
- Brief Summary
This study will follow participants who are screened and confirmed with a genetic diagnosis of Limb-girdle muscular dystrophy type 2E (LGMD2E/R4), Limb-girdle muscular dystrophy type 2D (LGMD2D/R3), Limb-girdle muscular dystrophy type 2C (LGMD2C/R5), or Limb-girdle muscular dystrophy type 2A (LGMD2A/R1).
These enrolled participants will be followed to evaluate mobility and pulmonary function for up to 5 years after enrollment for participants with LGMD2C/R5, LGMD2D/R3, and LGMD2E/R4 with a North Star Assessment for Dysferlinopathy (NSAD) ≥ 25 at Baseline, up to 3 years for participants with LGMD2C/R5, LGMD2D/R3, and LGMD2E/R4 with a NSAD \< 25 at Baseline, and up to 3 years for participants with LGMD2A/R1. Additional participant data will be collected from the time the individual began experiencing LGMD symptoms to the present.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 241
- Male or female participant ≥ 4 years of age who demonstrate symptoms of LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, or LGMD2A/R1 in the opinion of the investigator (eg, muscle weakness, loss of function, delayed milestones).
- Confirmed clinical and genetic diagnosis of LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, or LGMD2A/R1.
- Demonstrates cognitive delay or impairment that could confound motor development, in the opinion of the Investigator.
- Has a medical condition, in the opinion of the Investigator, that might compromise participants ability to comply with study requirements.
- Is participating in other interventional study(ies) at the time of enrollment in this study.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method NSAD Total Score Baseline up to Month 60 Time of 10-Meter Walk/Run [10MWR] Baseline up to Month 60 Time to Ascend 4 Steps Baseline up to Month 60 Ankle Range of Motion (ROM) Baseline up to Month 60 Dimension of the Performance of the Upper Limb (PUL) Baseline up to Month 60 Timed Up and Go (TUG) Baseline up to Month 60 Time of 100-Meter Walk/Run (100MWR) Baseline up to Month 60 Pulmonary Function Test: Forced Vital Capacity (FVC) Baseline up to Month 60 Time to Rise from the Floor Baseline up to Month 60
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (26)
Barrow Neurological Institute
🇺🇸Phoenix, Arizona, United States
Arkansas Children's
🇺🇸Little Rock, Arkansas, United States
University of California San Diego
🇺🇸La Jolla, California, United States
University of California, Davis Health Dept of PM&R
🇺🇸Sacramento, California, United States
Anne & Robert H. Lurie Children's Hospital of Chicago
🇺🇸Chicago, Illinois, United States
Nationwide Children's Hospital
🇺🇸Columbus, Ohio, United States
Oregon Health and Science University
🇺🇸Portland, Oregon, United States
University of Texas Southwestern Medical Center
🇺🇸Dallas, Texas, United States
University of Utah Hospital
🇺🇸Salt Lake City, Utah, United States
Children's Hospital of the King's Daughters
🇺🇸Norfolk, Virginia, United States
University Hospital Gent
🇧🇪Gent, Oost-Vlaanderen, Belgium
UZ Leuven
🇧🇪Leuven, Vlaams Brabant, Belgium
Hôpital Universitaire des Enfants Reine Fabiola
🇧🇪Brussels, Belgium
Hospital de Clinicas de Porto Alegre (HCPA) - PPDS
🇧🇷Porto Alegre, Rio Grande Do Sul, Brazil
Children's Hospital - London Health Science Centre
🇨🇦London, Ontario, Canada
Zentrum für Kinderheilkunde und Jugendmedizin Uniklinikum Giessen Marburg (UKGM), Standort Giessen
🇩🇪Giessen, Hessen, Germany
Universitätsklinikum Essen
🇩🇪Essen, Nordrhein-Westfalen, Germany
Istituto Giannina Gaslini
🇮🇹Genova, Liguria, Italy
Azienda Ospedale Università Padova
🇮🇹Padova, Veneto, Italy
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
🇮🇹Milan, Italy
Hospital Sant Joan de Déu Universidad de Barcelona
🇪🇸Barcelona, Spain
Karolinska Universitetssjukhuset Solna
🇸🇪Stockholm, Stockholms Lan, Sweden
The Children's Hospital of Philadelphia
🇺🇸Philadelphia, Pennsylvania, United States
Lokman Hekim Etlik Hastanesi
🇹🇷Ankara, Turkey
UCL Institute of Child Health & Great Ormond Street Hospital for Children
🇬🇧London, United Kingdom
Institute of Genetic Medicine, International Centre for Life
🇬🇧Newcastle Upon Tyne, United Kingdom