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: Recruiting
Location: See all (26) locations...
Study Type: Observational
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.
Eligibility
Participation Requirements
Sex: All
Minimum Age: 4
Healthy Volunteers: f
View:
• 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.
Locations
United States
Arkansas
Arkansas Children's
RECRUITING
Little Rock
Arizona
Barrow Neurological Institute
COMPLETED
Phoenix
California
University of California San Diego
RECRUITING
La Jolla
University of California, Davis Health Dept of PM&R
RECRUITING
Sacramento
Illinois
Anne & Robert H. Lurie Children's Hospital of Chicago
RECRUITING
Chicago
Ohio
Nationwide Children's Hospital
RECRUITING
Columbus
Oregon
Oregon Health and Science University
COMPLETED
Portland
Pennsylvania
The Children's Hospital of Philadelphia
RECRUITING
Philadelphia
Texas
University of Texas Southwestern Medical Center
RECRUITING
Dallas
Utah
University of Utah Hospital
COMPLETED
Salt Lake City
Virginia
Children's Hospital of the King's Daughters
RECRUITING
Norfolk
Other Locations
Belgium
Hôpital Universitaire des Enfants Reine Fabiola
RECRUITING
Brussels
University Hospital Gent
RECRUITING
Ghent
UZ Leuven
RECRUITING
Leuven
Brazil
Hospital de Clinicas de Porto Alegre (HCPA) - PPDS
RECRUITING
Porto Alegre
Canada
Children's Hospital - London Health Science Centre
COMPLETED
London
Germany
Universitätsklinikum Essen
RECRUITING
Essen
Zentrum für Kinderheilkunde und Jugendmedizin Uniklinikum Giessen Marburg (UKGM), Standort Giessen
RECRUITING
Giessen
Italy
Istituto Giannina Gaslini
RECRUITING
Genoa
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
RECRUITING
Milan
Azienda Ospedale Università Padova
RECRUITING
Padua
Spain
Hospital Sant Joan de Déu Universidad de Barcelona
RECRUITING
Barcelona
Sweden
Karolinska Universitetssjukhuset Solna
RECRUITING
Stockholm
Turkey
Lokman Hekim Etlik Hastanesi
RECRUITING
Ankara
United Kingdom
UCL Institute of Child Health & Great Ormond Street Hospital for Children
RECRUITING
London
Institute of Genetic Medicine, International Centre for Life
RECRUITING
Newcastle Upon Tyne
Contact Information
Primary
Sarepta Therapeutics Inc., For Clinical Trial Information, Select Option 4
SareptAlly@sarepta.com
1-888-SAREPTA (1-888-727-3782)
Time Frame
Start Date:2021-04-22
Estimated Completion Date:2030-04-30
Participants
Target number of participants:241
Treatments
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.
LGMD2A/R1 Cohort
Participants with LGMD2A/R1 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.