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

Limb-girdle Muscular Dystrophy Clinical Trial

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)

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04475926
• Other study ID #: SRP-LGMD-501-NHS
• Status: Recruiting
• Start date: April 22, 2021
• Est. completion date: March 31, 2028

Study information

• Verified date: March 2024
• Source: Sarepta Therapeutics, Inc.
• Contact: Sarepta Therapeutics Inc., For Clinical Trial Information, Selec
• Phone: 1-888-SAREPTA (1-888-727-3782)
• Email: SareptAlly[@]sarepta.com
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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 3 years after enrollment. Additional participant data will be collected from the time the individual began experiencing LGMD symptoms to the present.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 225
• Est. completion date: March 31, 2028
• Est. primary completion date: March 31, 2028
• Accepts healthy volunteers: No
• Gender: All
• Age group: 4 Years and older

Eligibility

Inclusion Criteria:

• Male or female participant = 4 years of age with confirmed 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.

Related Conditions & MeSH terms

• Limb-girdle Muscular Dystrophy
• Muscular Dystrophies

Locations

Country	Name	City	State
Belgium	Hôpital Universitaire des Enfants Reine Fabiola	Brussels
Belgium	University Hospital Gent	Gent	Oost-Vlaanderen
Belgium	UZ Leuven	Leuven	Vlaams Brabant
Brazil	Hospital de Clinicas de Porto Alegre (HCPA) - PPDS	Porto Alegre	Rio Grande Do Sul
Canada	Children's Hospital - London Health Science Centre	London	Ontario
Germany	Universitätsklinikum Essen	Essen	Nordrhein-Westfalen
Germany	Zentrum für Kinderheilkunde und Jugendmedizin Uniklinikum Giessen Marburg (UKGM), Standort Giessen	Giessen	Hessen
Italy	Istituto Giannina Gaslini	Genova	Liguria
Italy	Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico	Milan
Italy	Azienda Ospedale Università Padova	Padova	Veneto
Spain	Hospital Sant Joan de Déu Universidad de Barcelona	Barcelona
Sweden	Karolinska Universitetssjukhuset Solna	Stockholm	Stockholms Lan
Turkey	Lokman Hekim Etlik Hastanesi	Ankara
United Kingdom	UCL Institute of Child Health & Great Ormond Street Hospital for Children	London
United Kingdom	Institute of Genetic Medicine, International Centre for Life	Newcastle Upon Tyne
United States	Anne & Robert H. Lurie Children's Hospital of Chicago	Chicago	Illinois
United States	Nationwide Children's Hospital	Columbus	Ohio
United States	University of Texas Southwestern Medical Center	Dallas	Texas
United States	University of California San Diego	La Jolla	California
United States	Arkansas Children's	Little Rock	Arkansas
United States	Children's Hospital of the King's Daughters	Norfolk	Virginia
United States	The Children's Hospital of Philadelphia	Philadelphia	Pennsylvania
United States	Barrow Neurological Institute	Phoenix	Arizona
United States	Oregon Health and Science University	Portland	Oregon
United States	University of California, Davis Health Dept of PM&R	Sacramento	California
United States	University of Utah Hospital	Salt Lake City	Utah

Sponsors (1)

Lead Sponsor	Collaborator
Sarepta Therapeutics, Inc.

Countries where clinical trial is conducted

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

Outcome

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

External Links

•   Click here to access the website, https://clinicaltrials.sarepta.com/journeyLGMD, for additional information for the study.