The goal of this international observational study is to learn about the natural history of Danon disease in male patients (≥8 years of age) and female patients (8 to 50 years of age).
Eligibility
Sex
ALL
Min age
8 Years
Max age
—
Healthy volunteers
No
Prospective Cohort:
1. Documentation of a pathogenic or likely pathogenic variant of the LAMP2 gene by a CLIA-certified genetic testing laboratory
2. Patient or parent/legal guardian are capable and willing to provide signed informed consent
3. Age ≥ 8 years at enrollment
Female Prospective Cohort:
4. Evidence of left ventricular hypertrophy in the 12 months prior to or at enrollment.
Retrospective (only) Cohort:
5. Documentation of a pathogenic or likely pathogenic variant of the LAMP2 gene by a CLIA-certified genetic testing laboratory
6. Patient or parent/legal guardian are capable and willing to provide signed informed consent, as required by local regulations
7. Age ≥ 8 years at enrollment
8. Prior cardiac transplantation or prior mechanical circulatory support
9. At least 30 days of retrospective medical records available prior to cardiac transplantation or mechanical circulatory support
Female Retrospective (only) Cohort:
10. Prior evidence of left ventricular hypertrophy.
Key Exclusion Criteria:
All Cohorts:
1. Concurrent enrollment in any other clinical investigation involving use of an investigational agent for any condition at time of enrollment to this study that could confound interpretation of this study
2. Previous treatment with a gene therapy
Prospective Cohort:
3. Prior mechanical circulatory support at time of enrollment to this study
4. Prior cardiac transplantation at time of enrollment to this study
Female patients:
5. Age \>51 years at enrollment
Primary outcome measure(s)
Left Ventricular Mass Index (LVMI) by echocardiogram — Month 12, 24, 36 Evaluation of change over duration of follow up
Trial sites (15)
Facility
City
Region
Status
Phoenix Children's Hospital
Phoenix
Arizona
Recruiting
University of California, San Diego
La Jolla
California
Recruiting
Children's Hospital Colorado
Aurora
Colorado
Recruiting
University of Florida College of Medicine
Gainesville
Florida
Recruiting
University of Michigan
Ann Arbor
Michigan
Recruiting
Washington University
St Louis
Missouri
Recruiting
Columbia University Medical Center/New York Presbyterian
New York
New York
Recruiting
University of Texas, Southwestern
Dallas
Texas
Recruiting
Texas Children's Hospital
Houston
Texas
Recruiting
German Heart Center Munich
München
Germany
Recruiting
Sheba Medical Center
Ramat Gan
Israel
Recruiting
Azienda Ospedaliera Universitaria Meyer IRCCS
Florence
Italy
Recruiting
Hospital Universitario Puerta de Hierro Majadahonda
Majadahonda
Madrid
Recruiting
Sant Joan de Déu Hospital
Barcelona
Spain
Recruiting
University College London - Great Ormond Street Institute of Child Health
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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