A Study of the Natural History of Participants With LGMD2E/R4, LGMD2D/R3, and LGMD2C/R5, ≥ 4 Years of Age, Who Are Managed in Routine Clinical Practice

Sponsor

Sarepta Therapeutics, Inc. (Industry)

Overall Status

Recruiting

CT.gov ID

NCT04475926

Collaborator

(none)

Enrollment

Locations

56.1

Anticipated Duration (Months)

Patients Per Site

0.1

Patients Per Site Per Month

Study Details

Study Description

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), 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.

Condition or Disease	Intervention/Treatment	Phase
Limb-girdle Muscular Dystrophy

Study Design

Study Type:

Observational

Anticipated Enrollment :

90 participants

Observational Model:

Cohort

Time Perspective:

Prospective

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)

Actual Study Start Date :

Apr 22, 2021

Anticipated Primary Completion Date :

Dec 24, 2025

Anticipated Study Completion Date :

Dec 24, 2025

Arms and Interventions

Arm	Intervention/Treatment
LGMD2E/R4 Cohort Participants with LGMD2E/R4 will be enrolled in this cohort. Enrollment will be capped according to age as follows: 4 to 7 years age range, 8 to 16 years age range, and ≥17 years age range through the course of the study.
LGMD2D/R3 Cohort Participants with LGMD2D/R3 will be enrolled in this cohort. Enrollment will be capped according to age as follows: 4 to 7 years age range, 8 to 16 years age range, and ≥17 years age range through the course of the study.
LGMD2C/R5 Cohort Participants with LGMD2C/R5 will be enrolled in this cohort. Enrollment will be capped according to age as follows: 4 to 7 years age range, 8 to 16 years age range, and ≥17 years age range through the course of the study.

Outcome Measures

Primary Outcome Measures

North Star Assessment for Dysferlinopathy (NSAD) Total Score [Baseline up to Month 36]
Time to Rise from the Floor [Baseline up to Month 36]
Time of 10-Meter Walk/Run [10MWR] [Baseline up to Month 36]
Time to Ascend 4 Steps [Baseline up to Month 36]
Dimension of the Performance of the Upper Limb (PUL) [Baseline up to Month 36]
Timed Up and Go (TUG) [Baseline up to Month 36]
Time of 100-Meter Walk/Run (100MWR) [Baseline up to Month 36]
Pulmonary Function Test: Forced Vital Capacity (FVC) [Baseline up to Month 36]

Eligibility Criteria

Criteria

Ages Eligible for Study:

4 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Inclusion Criteria:

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

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.

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Barrow Neurological Institute	Phoenix	Arizona	United States	85013
2	Arkansas Children's	Little Rock	Arkansas	United States	72202
3	University of California San Diego	La Jolla	California	United States	92037
4	University of California, Davis Health Dept of PM&R	Sacramento	California	United States	95817
5	Anne & Robert H. Lurie Children's Hospital of Chicago	Chicago	Illinois	United States	60611
6	Nationwide Children's Hospital	Columbus	Ohio	United States	43205
7	University of Texas Southwestern Medical Center	Dallas	Texas	United States	75201
8	University of Utah Hospital	Salt Lake City	Utah	United States	84112
9	Children's Hospital of the King's Daughters	Norfolk	Virginia	United States	23507
10	Children's Hospital - London Health Science Centre	London	Ontario	Canada	N6C 2R5
11	Zentrum für Kinderheilkunde und Jugendmedizin Uniklinikum Giessen Marburg (UKGM), Standort Giessen	Giessen	Hessen	Germany	35392
12	Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico	Milan		Italy	20122
13	Lokman Hekim Etlik Hastanesi	Ankara		Turkey	06100
14	UCL Institute of Child Health & Great Ormond Street Hospital for Children	London		United Kingdom	WC1N 1EH
15	Institute of Genetic Medicine, International Centre for Life	Newcastle Upon Tyne		United Kingdom	NE1 3BZ