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 (NCT04475926)
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)
🩺 Plain-English Summary (8th-Grade Level)
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.
Who can join: Review the eligibility criteria below.
Location: Barrow Neurological Institute — Phoenix, Arizona
Age range: 4 Years
📋 "Do I Qualify?" — 1-Minute Self Screener
Instant ChecklistFull eligibility criteria are available on the official NIH protocol. View the criteria ↗
📍 All Participating Trial Locations (26 Sites)
Showing the first 25 of 26 sites.
- Barrow Neurological Institute — Phoenix, Arizona
- Arkansas Children's — Little Rock, Arkansas
- University of California San Diego — La Jolla, California
- University of California, Davis Health Dept of PM&R — Sacramento, California
- Anne & Robert H. Lurie Children's Hospital of Chicago — Chicago, Illinois
- Nationwide Children's Hospital — Columbus, Ohio
- Oregon Health and Science University — Portland, Oregon
- The Children's Hospital of Philadelphia — Philadelphia, Pennsylvania
- University of Texas Southwestern Medical Center — Dallas, Texas
- University of Utah Hospital — Salt Lake City, Utah
- Children's Hospital of the King's Daughters — Norfolk, Virginia
- University Hospital Gent — Ghent, Oost-Vlaanderen
- UZ Leuven — Leuven, Vlaams Brabant
- Hôpital Universitaire des Enfants Reine Fabiola — Brussels,
- Hospital de Clinicas de Porto Alegre (HCPA) - PPDS — Porto Alegre, Rio Grande do Sul
- Children's Hospital - London Health Science Centre — London, Ontario
- Zentrum für Kinderheilkunde und Jugendmedizin Uniklinikum Giessen Marburg (UKGM), Standort Giessen — Giessen, Hesse
- Universitätsklinikum Essen — Essen, North Rhine-Westphalia
- Istituto Giannina Gaslini — Genoa, Liguria
- Azienda Ospedale Università Padova — Padova, Veneto
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico — Milan,
- Hospital Sant Joan de Déu Universidad de Barcelona — Barcelona,
- Karolinska Universitetssjukhuset Solna — Stockholm, Stockholm County
- Lokman Hekim Etlik Hastanesi — Ankara,
- UCL Institute of Child Health & Great Ormond Street Hospital for Children — London,
💰 Cost, Insurance & Patient Rights
- 100% Free Items: The investigational treatment and protocol-required procedures are supplied at zero cost by the sponsor.
- Routine Patient Care: Under federal law (ACA § 2709) and many state statutes, routine care costs are covered during participation.
- Voluntary Participation: You may withdraw at any time without affecting your standard medical care.
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💡 How to Participate
- Check the checklist above to see if you may qualify.
- Review the official NIH record below to find the coordinating site.
- Ask about the visit schedule, what is covered at no cost, and any travel support.
- Confirm with your own doctor before making a decision.