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A Study of the Natural History of Patients With LGMD2E, LGMD2D, and LGMD2C, ≥ 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 : October 8, 2020
Sponsor:
Information provided by (Responsible Party):
Sarepta Therapeutics, Inc.

Brief Summary:
This study will follow participants who are screened and confirmed with a genetic diagnosis of LGMD2E, LGMD2D, or LGMD2C. These enrolled participants will be followed to evaluate mobility and pulmonary function for a time period between 24 weeks 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
Limb-girdle Muscular Dystrophy

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Study Type : Observational
Estimated Enrollment : 160 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: A Multi-Center, 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 : October 2020
Estimated Primary Completion Date : April 2023
Estimated Study Completion Date : December 2023


Group/Cohort
LGMD2E Cohort
Patients with LGMD2E 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 Cohort
Patients with LGMD2D 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 Cohort
Patients with LGMD2C 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.



Primary Outcome Measures :
  1. Time to Rise from the Floor [ Time Frame: Baseline upto Week 144 ]
  2. Time to Ascend 4 Steps [ Time Frame: Baseline upto Week 144 ]
  3. Time of 100-Meter Walk/Run (100MWR) [ Time Frame: Baseline upto Week 144 ]
  4. North Star Assessment for Dysferlinopathy (NSAD) Total Score [ Time Frame: Baseline upto Week 144 ]
  5. Dimension of the Performance of the Upper Limb (PUL) [ Time Frame: Baseline upto Week 144 ]
  6. Pulmonary Function Test: Forced Vital Capacity (FVC) [ Time Frame: Baseline upto Week 144 ]


Information from the National Library of Medicine

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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, LGMD2D, or LGMD2C.
Criteria

Inclusion Criteria:

  • Male or female patient ≥ 4 years of age with confirmed genetic diagnosis of LGMD2E, LGMD2D, or LGMD2C.

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.

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, Arkansas
Arkansas Children's Hospital Recruiting
Little Rock, Arkansas, United States, 72202
Contact: Annette Guy       guyea@archildrens.org   
Principal Investigator: Aravindhan Veerapandiyan         
Sponsors and Collaborators
Sarepta Therapeutics, Inc.
Investigators
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Study Director: Medical Director Sarepta Therapeutics, Inc.
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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: October 8, 2020
Last Verified: October 2020
Keywords provided by Sarepta Therapeutics, Inc.:
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-2D
LGMD-2E
LGMD-2C
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