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NCT06214507Recruiting

Danon Disease Natural History Study

Rocket Pharmaceuticals Inc.

Start Date

12/20/2023

Completion Date

3/1/2030

Summary

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).

Detailed Description

This is an international observational study with both retrospective and prospective data collection. The study is designed to describe the natural history of Danon disease, a rare X-linked genetic disorder, and one of the most severe and penetrant forms of inherited cardiomyopathy. This study will collect data about the clinical course of Danon disease, including signs and symptoms, key clinical events, and the impact of the disease on quality of life as managed with the current standard of care. A hybrid (retrospective and prospective data collection) approach is being used to generate robust and longitudinal data. A subset of patients will be used as an External Control Arm for comparison to RP-A501 Trial participants.

Eligibility Criteria

Age Range: 8 years to No maximum

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

Interventions

OTHER

No intervention

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Conditions

Danon Disease

Locations

Phoenix Children's Hospital

Phoenix, Arizona 85016

United States

University of California, San Diego

La Jolla, California 92037

United States

Children's Hospital Colorado

Aurora, Colorado 80045

United States

University of Florida College of Medicine

Gainesville, Florida 32610

United States

University of Michigan

Ann Arbor, Michigan 48109

United States

Washington University

St Louis, Missouri 63110

United States

Columbia University Medical Center/New York Presbyterian

New York, New York 10032

United States

University of Texas, Southwestern

Dallas, Texas 75235

United States

Texas Children's Hospital

Houston, Texas 77030

United States

German Heart Center Munich

München,

Germany

Sheba Medical Center

Ramat Gan, 5265601

Israel

Azienda Ospedaliera Universitaria Meyer IRCCS

Florence, 50139

Italy

Hospital Universitario Puerta de Hierro Majadahonda

Majadahonda, Madrid

Spain

Sant Joan de Déu Hospital

Barcelona, 08950

Spain

University College London - Great Ormond Street Institute of Child Health

London, WC1N 1DZ

United Kingdom