Overview
The goal of this international observational study is to learn about the natural history of Danon disease in male patients >8 years of age. The key objectives include assessing change over time in cardiac structure (left ventricular mass and wall thickness), cardiac biomarkers, symptoms, and quality of life and the incidence of clinical events such as HF hospitalization, cardiac transplantation, and death.
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 which is 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 managed with current standard of care. A hybrid (retrospective and prospective data collection) approach is being taken with the aim of achieving robust and longitudinal data generation.
Eligibility
Inclusion Criteria:
Prospective Cohort:
- Documentation of a pathogenic or likely pathogenic variant of the LAMP2 gene by a CLIA-certified genetic testing laboratory
- Male sex
- Age ≥ 8 years at enrollment
Retrospective (only) Cohort:
- Documentation of a pathogenic or likely pathogenic variant of the LAMP2 gene by a CLIA-certified genetic testing laboratory
- Male sex
- Age ≥ 8 years at enrollment
- Cardiac transplantation or prior mechanical circulatory support in the 24 months prior to enrollment
- At least 30 days of retrospective medical records available prior to cardiac transplantation or mechanical circulatory support
Exclusion Criteria:
All Cohorts:
- 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
- Previous treatment with a gene therapy
Prospective Cohort:
- Prior mechanical circulatory support at time of enrollment to this study
- Prior cardiac transplantation at time of enrollment to this study