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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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04475926
Recruitment Status : Recruiting
First Posted : July 17, 2020
Last Update Posted : April 10, 2023
Sponsor:
Information provided by (Responsible Party):
Sarepta Therapeutics, Inc.

Tracking Information
First Submitted Date July 14, 2020
First Posted Date July 17, 2020
Last Update Posted Date April 10, 2023
Actual Study Start Date April 22, 2021
Estimated Primary Completion Date December 24, 2025   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: March 2, 2021)
  • North Star Assessment for Dysferlinopathy (NSAD) Total Score [ Time Frame: Baseline up to Month 36 ]
  • Time to Rise from the Floor [ Time Frame: Baseline up to Month 36 ]
  • Time of 10-Meter Walk/Run [10MWR] [ Time Frame: Baseline up to Month 36 ]
  • Time to Ascend 4 Steps [ Time Frame: Baseline up to Month 36 ]
  • Dimension of the Performance of the Upper Limb (PUL) [ Time Frame: Baseline up to Month 36 ]
  • Timed Up and Go (TUG) [ Time Frame: Baseline up to Month 36 ]
  • Time of 100-Meter Walk/Run (100MWR) [ Time Frame: Baseline up to Month 36 ]
  • Pulmonary Function Test: Forced Vital Capacity (FVC) [ Time Frame: Baseline up to Month 36 ]
Original Primary Outcome Measures
 (submitted: July 14, 2020)
  • Time to Rise From the Floor [ Time Frame: Baseline upto Week 144 ]
  • Time to Ascend 4 Steps [ Time Frame: Baseline upto Week 144 ]
  • Time of 100-Meter Walk/Run (100MWR) [ Time Frame: Baseline upto Week 144 ]
  • North Star Assessment for Dysferlinopathy (NSAD) Total Score [ Time Frame: Baseline upto Week 144 ]
  • Dimension of the Performance of the Upper Limb (PUL) [ Time Frame: Baseline upto Week 144 ]
  • Pulmonary Function Test: Forced Vital Capacity (FVC) [ Time Frame: Baseline upto Week 144 ]
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title 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
Official 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), and Type 2C (LGMD2C/R5)
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), 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.
Detailed Description Not Provided
Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population The population for this study is ambulatory or non-ambulatory participants ≥ 4 years of age with confirmed genetic diagnosis of LGMD2E/R4, LGMD2D/R3, or LGMD2C/R5.
Condition Limb-girdle Muscular Dystrophy
Intervention Not Provided
Study Groups/Cohorts
  • LGMD2E/R4 Cohort
    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.
  • LGMD2D/R3 Cohort
    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.
  • LGMD2C/R5 Cohort
    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.
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: July 14, 2022)		 90
Original Estimated Enrollment
 (submitted: July 14, 2020)		 160
Estimated Study Completion Date December 24, 2025
Estimated Primary Completion Date December 24, 2025   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

- Male or female participant ≥ 4 years of age with confirmed genetic diagnosis of LGMD2E/R4, LGMD2D/R3, or LGMD2C/R5.

Exclusion Criteria:

  • 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.
Sex/Gender
Sexes Eligible for Study: All
Ages 4 Years and older   (Child, Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts
Contact: Sarepta Therapeutics Inc., For Clinical Trial Information, Select Option 4 1-888-SAREPTA (1-888-727-3782) SareptAlly@sarepta.com
Listed Location Countries Belgium,   Brazil,   Canada,   Germany,   Italy,   Spain,   Sweden,   Turkey,   United Kingdom,   United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT04475926
Other Study ID Numbers SRP-LGMD-501-NHS
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Current Responsible Party Sarepta Therapeutics, Inc.
Original Responsible Party Same as current
Current Study Sponsor Sarepta Therapeutics, Inc.
Original Study Sponsor Same as current
Collaborators Not Provided
Investigators
Study Director: Medical Director Sarepta Therapeutics, Inc.
PRS Account Sarepta Therapeutics, Inc.
Verification Date April 2023