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

a study on Limb-Girdle Muscular Dystrophy

Summary

Eligibility
for people ages 4 years and up (full criteria)
Location
at La Jolla, California and other locations
Dates
study started
completion around
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), 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)

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, LGMD2A/R1, Clinical Outcomes Assessment, Muscular Dystrophies, Limb-Girdle Muscular Dystrophies, Sarcoglycanopathies

Eligibility

You can join if…

Open to people ages 4 years and up

  • 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).
  • Confirmed clinical and genetic diagnosis of LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, or LGMD2A/R1.

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 completed
    Phoenix Arizona 85013 United States
  • University of California, Davis Health Dept of PM&R accepting new patients
    Sacramento California 95817 United States

Lead Scientist at UCSD

  • Chamindra Konersman, MD
    Clinical Professor, Neurosciences, Vc-health Sciences-schools. Authored (or co-authored) 7 research publications

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 241 study participants
Last Updated
Contact us about this trial