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A Study of the Natural History of Patients With LGMD2E/R4, LGMD2D/R3, and LGMD2C/R5, ≥ 4 Years of Age, Who Are Managed in Routine Clinical Practice

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ClinicalTrials.gov Identifier: NCT04475926
Recruitment Status : Recruiting
First Posted : July 17, 2020
Last Update Posted : March 5, 2021
Sponsor:
Information provided by (Responsible Party):
Sarepta Therapeutics, Inc.

Study Description
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Brief Summary:
This study will follow patients 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 patients will be followed to evaluate mobility and pulmonary function for up to 3 years after enrollment. Additional patient data will be collected from the time the individual began experiencing LGMD symptoms to the present.

Condition or disease
Limb-girdle Muscular Dystrophy

Study Design
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Study Type : Observational
Estimated Enrollment : 160 participants
Observational Model: Cohort
Time Perspective: Prospective
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)
Estimated Study Start Date : March 2021
Estimated Primary Completion Date : August 2023
Estimated Study Completion Date : April 2024

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort
LGMD2E/R4 Cohort
Patients with LGMD2E/R4 will be enrolled in this cohort. Enrollment will be capped according to age as follows: 4 to <8 years age range, 8 to <14 years age range, and ≥14 years age range through the course of the study.
LGMD2D/R3 Cohort
Patients with LGMD2D/R3 will be enrolled in this cohort. Enrollment will be capped according to age as follows: 4 to <8 years age range, 8 to <14 years age range, and ≥14 years age range through the course of the study.
LGMD2C/R5 Cohort
Patients with LGMD2C/R5 will be enrolled in this cohort. Enrollment will be capped according to age as follows: 4 to <8 years age range, 8 to <14 years age range, and ≥14 years age range through the course of the study.


Outcome Measures
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Primary Outcome Measures :
  1. North Star Assessment for Dysferlinopathy (NSAD) Total Score [ Time Frame: Baseline up to Month 36 ]
  2. Time to Rise from the Floor [ Time Frame: Baseline up to Month 36 ]
  3. Time of 10-Meter Walk/Run [10MWR] [ Time Frame: Baseline up to Month 36 ]
  4. Time to Ascend 4 Steps [ Time Frame: Baseline up to Month 36 ]
  5. Dimension of the Performance of the Upper Limb (PUL) [ Time Frame: Baseline up to Month 36 ]
  6. Timed Up and Go (TUG) [ Time Frame: Baseline up to Month 36 ]
  7. Time of 100-Meter Walk/Run (100MWR) [ Time Frame: Baseline up to Month 36 ]
  8. Pulmonary Function Test: Forced Vital Capacity (FVC) [ Time Frame: Baseline up to Month 36 ]

Eligibility Criteria
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Ages Eligible for Study:   4 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
The population for this study is ambulatory or non-ambulatory patients ≥ 4 years of age with confirmed genetic diagnosis of LGMD2E/R4, LGMD2D/R3, or LGMD2C/R5.
Criteria

Inclusion Criteria:

  • Male or female patient ≥ 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 patients ability to comply with study requirements.
  • Is participating in other interventional study(ies) at the time of enrollment in this study.
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04475926


Contacts
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Contact: Medical Information +1-800-690-2003 clinicaltrials@sarepta.com

Locations
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United States, Arizona
Barrow Neurological Institute Recruiting
Phoenix, Arizona, United States, 85013
Contact: Stephanie Strong    602-406-4771    Fulton.research@dignityhealth.org   
Principal Investigator: Bill Jacobsen, MD         
United States, Arkansas
Arkansas Children's Recruiting
Little Rock, Arkansas, United States, 72202
Contact: Annette Guy       guyea@archildrens.org   
Principal Investigator: Aravindhan Veerapandiyan         
United States, Illinois
Anne & Robert H. Lurie Children's Hospital of Chicago Recruiting
Chicago, Illinois, United States, 60611
Contact: Kathleen Meeks    312-227-0067    katmeeks@luriechildrens.org   
Principal Investigator: Vamshi Rao, MD         
United States, Virginia
Children's Hospital of the King's Daughters Recruiting
Norfolk, Virginia, United States, 23507
Contact: Cara Headrick    757-688-6417    cara.headrick@chkd.org   
Principal Investigator: Crystal Proud, MD         
Sponsors and Collaborators
Sarepta Therapeutics, Inc.
Investigators
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Study Director: Medical Director Sarepta Therapeutics, Inc.
More Information
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Responsible Party: Sarepta Therapeutics, Inc.
ClinicalTrials.gov Identifier: NCT04475926    
Other Study ID Numbers: SRP-LGMD-501-NHS
First Posted: July 17, 2020    Key Record Dates
Last Update Posted: March 5, 2021
Last Verified: March 2021
Keywords provided by Sarepta Therapeutics, Inc.:
LGMD-2D/R3
North Star Assessment for Dysferlinopathy (NSAD)
Performance of Upper Limb (PUL)
Pulmonary function tests (PFTs)
Ambulatory
Non-Ambulatory
Limb-girdle
LGMD
 sarcoglycanopathy
β -sarcoglycan
Muscular Dystrophy
α - sarcoglycan
γ - sarcoglycan
LGMD-2E/R4
LGMD-2C/R5
Clinical Outcomes Assessment
Additional relevant MeSH terms:
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Muscular Dystrophies
Muscular Dystrophies, Limb-Girdle
Sarcoglycanopathies
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
 Nervous System Diseases
Genetic Diseases, Inborn
Respiration Disorders
Respiratory Tract Diseases
Cardiomyopathies
Heart Diseases
Cardiovascular Diseases