Summary

Eligibility
for people ages 4 years and up (full criteria)
Location
at La Jolla, California and other locations
Dates
study started
estimated completion
Principal Investigator
by Chamindra Konersman, MD

Description

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.

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)

Keywords

Limb-girdle Muscular Dystrophy 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 Clinical Outcomes Assessment Muscular Dystrophies Muscular Dystrophies, Limb-Girdle Sarcoglycanopathies

Eligibility

You can join if…

Open to people ages 4 years and up

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

You CAN'T join if...

  • 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.

Locations

  • University of California San Diego accepting new patients
    La Jolla California 92037 United States
  • Barrow Neurological Institute accepting new patients
    Phoenix Arizona 85013 United States

Lead Scientist at UCSD

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
Sarepta Therapeutics, Inc.
Links
Click here to access the website, https://clinicaltrials.sarepta.com/journeyLGMD, for additional information for the study.
ID
NCT04475926
Study Type
Observational
Participants
Expecting 90 study participants
Last Updated