A Study of the Natural History of Participants With LGMD2E/R4, LGMD2D/R3, and LGMD2C/R5, ≥ 4 Years of Age, Who Are Managed in Routine Clinical Practice
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), or Limb-girdle muscular dystrophy type 2C (LGMD2C/R5). These enrolled participants will be followed to evaluate mobility and pulmonary function for up to 3 years after enrollment. Additional participant data will be collected from the time the individual began experiencing LGMD symptoms to the present.
|Condition or Disease||Intervention/Treatment||Phase|
Arms and Interventions
Participants with LGMD2E/R4 will be enrolled in this cohort. Enrollment will be capped according to age as follows: 4 to 7 years age range, 8 to 16 years age range, and ≥17 years age range through the course of the study.
Participants with LGMD2D/R3 will be enrolled in this cohort. Enrollment will be capped according to age as follows: 4 to 7 years age range, 8 to 16 years age range, and ≥17 years age range through the course of the study.
Participants with LGMD2C/R5 will be enrolled in this cohort. Enrollment will be capped according to age as follows: 4 to 7 years age range, 8 to 16 years age range, and ≥17 years age range through the course of the study.
Primary Outcome Measures
- North Star Assessment for Dysferlinopathy (NSAD) Total Score [Baseline up to Month 36]
- Time to Rise from the Floor [Baseline up to Month 36]
- Time of 10-Meter Walk/Run [10MWR] [Baseline up to Month 36]
- Time to Ascend 4 Steps [Baseline up to Month 36]
- Dimension of the Performance of the Upper Limb (PUL) [Baseline up to Month 36]
- Timed Up and Go (TUG) [Baseline up to Month 36]
- Time of 100-Meter Walk/Run (100MWR) [Baseline up to Month 36]
- Pulmonary Function Test: Forced Vital Capacity (FVC) [Baseline up to Month 36]
- Male or female participant ≥ 4 years of age with confirmed genetic diagnosis of LGMD2E/R4, LGMD2D/R3, or LGMD2C/R5.
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.
Contacts and Locations
|1||Barrow Neurological Institute||Phoenix||Arizona||United States||85013|
|2||Arkansas Children's||Little Rock||Arkansas||United States||72202|
|3||University of California San Diego||La Jolla||California||United States||92037|
|4||University of California, Davis Health Dept of PM&R||Sacramento||California||United States||95817|
|5||Anne & Robert H. Lurie Children's Hospital of Chicago||Chicago||Illinois||United States||60611|
|6||Nationwide Children's Hospital||Columbus||Ohio||United States||43205|
|7||University of Texas Southwestern Medical Center||Dallas||Texas||United States||75201|
|8||University of Utah Hospital||Salt Lake City||Utah||United States||84112|
|9||Children's Hospital of the King's Daughters||Norfolk||Virginia||United States||23507|
|10||Children's Hospital - London Health Science Centre||London||Ontario||Canada||N6C 2R5|
|11||Zentrum für Kinderheilkunde und Jugendmedizin Uniklinikum Giessen Marburg (UKGM), Standort Giessen||Giessen||Hessen||Germany||35392|
|12||Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico||Milan||Italy||20122|
|13||Lokman Hekim Etlik Hastanesi||Ankara||Turkey||06100|
|14||UCL Institute of Child Health & Great Ormond Street Hospital for Children||London||United Kingdom||WC1N 1EH|
|15||Institute of Genetic Medicine, International Centre for Life||Newcastle Upon Tyne||United Kingdom||NE1 3BZ|
Sponsors and Collaborators
- Sarepta Therapeutics, Inc.
- Study Director: Medical Director, Sarepta Therapeutics, Inc.
Study Documents (Full-Text)None provided.
- Click here to access the website, https://clinicaltrials.sarepta.com/journeyLGMD, for additional information for the study.