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

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)

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04475926

Enrollment

205

Registered

2020-07-17

Start date

2021-04-22

Completion date

2030-09-05

Last updated

2025-11-06

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Limb-girdle Muscular Dystrophy

Keywords

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

Brief 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.

Detailed description

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

4 Years to No maximum

Healthy volunteers

Inclusion criteria

* 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.

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 participants ability to comply with study requirements. * Is participating in other interventional study(ies) at the time of enrollment in this study.

Design outcomes

Primary

Measure	Time frame
NSAD Total Score	Baseline up to Month 60
Time to Rise from the Floor	Baseline up to Month 60
Time of 10-Meter Walk/Run [10MWR]	Baseline up to Month 60
Time to Ascend 4 Steps	Baseline up to Month 60
Ankle Range of Motion (ROM)	Baseline up to Month 60
Dimension of the Performance of the Upper Limb (PUL)	Baseline up to Month 60
Timed Up and Go (TUG)	Baseline up to Month 60
Time of 100-Meter Walk/Run (100MWR)	Baseline up to Month 60
Pulmonary Function Test: Forced Vital Capacity (FVC)	Baseline up to Month 60

Countries

Belgium, Brazil, Canada, Germany, Italy, Spain, Sweden, Turkey (Türkiye), United Kingdom, United States

Outcome results