RECRUITING

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

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

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), Type 2C (LGMD2C/R5), and Type 2A (LGMD2A/R1)

Quick Facts

Study Start:2021-04-22
Study Completion:2030-04-30
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT04475926

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:4 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * 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).
  2. * Confirmed clinical and genetic diagnosis of LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, or LGMD2A/R1.
  1. * Demonstrates cognitive delay or impairment that could confound motor development, in the opinion of the Investigator.
  2. * Has a medical condition, in the opinion of the Investigator, that might compromise participants ability to comply with study requirements.
  3. * Is participating in other interventional study(ies) at the time of enrollment in this study.

Contacts and Locations

Study Contact

Sarepta Therapeutics Inc., For Clinical Trial Information, Select Option 4
CONTACT
1-888-SAREPTA (1-888-727-3782)
SareptAlly@sarepta.com

Principal Investigator

Medical Director
STUDY_DIRECTOR
Sarepta Therapeutics, Inc.

Study Locations (Sites)

Barrow Neurological Institute
Phoenix, Arizona, 85013
United States
Arkansas Children's
Little Rock, Arkansas, 72202
United States
University of California San Diego
La Jolla, California, 92037
United States
University of California, Davis Health Dept of PM&R
Sacramento, California, 95817
United States
Anne & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, 60611
United States
Nationwide Children's Hospital
Columbus, Ohio, 43205
United States
Oregon Health and Science University
Portland, Oregon, 97068
United States
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
United States
University of Texas Southwestern Medical Center
Dallas, Texas, 75201
United States
University of Utah Hospital
Salt Lake City, Utah, 84112
United States
Children's Hospital of the King's Daughters
Norfolk, Virginia, 23507
United States

Collaborators and Investigators

Sponsor: Sarepta Therapeutics, Inc.

  • Medical Director, STUDY_DIRECTOR, Sarepta Therapeutics, Inc.

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2021-04-22
Study Completion Date2030-04-30

Study Record Updates

Study Start Date2021-04-22
Study Completion Date2030-04-30

Terms related to this study

Keywords Provided by Researchers

  • 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/R3
  • LGMD-2E/R4
  • LGMD-2C/R5
  • LGMD2A/R1
  • Clinical Outcomes Assessment

Additional Relevant MeSH Terms

  • Limb-girdle Muscular Dystrophy