This study is in progress, not accepting new patients

A Study of the Natural History of Patients ≥ 4 Years of Age with Limb Girdle Muscular Dystrophy

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a study on Limb-Girdle Muscular Dystrophy

Summary

Eligibility
for people ages 4 years and up (full criteria)
Location
at UC Davis UCSD
Dates
study started
study ends around

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)

Details

LGMD Type 2A, 2C, and 2D cohorts are now closed. Enrollment in the LGMD Type 2E cohort is closed and participants will be followed for up to five years.

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, Limb-Girdle Muscular Dystrophies, Sarcoglycanopathies, Muscular Dystrophies

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
    La Jolla 5363943 California 5332921 92037 United States
  • University of California, Davis Health Dept of PM&R
    Sacramento 5389489 California 5332921 95817 United States

Details

Status
in progress, not accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
Sarepta Therapeutics, Inc.
ID
NCT04475926
Study Type
Observational
Participants
About 205 people participating
Last Updated