Danon Disease Natural History Study
Purpose
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 <30 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.
Condition
- Danon Disease
Eligibility
- Eligible Ages
- Over 8 Years
- Eligible Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
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 with preserved systolic function in the 12 months prior to or at enrollment as defined by each of the following: 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.
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 >30 years at enrollment
Study Design
- Phase
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Prospective
Arm Groups
Arm | Description | Assigned Intervention |
---|---|---|
Prospective |
|
|
Retrospective only |
|
Recruiting Locations
Washington University in St. Louis and nearby locations
St Louis 4407066, Missouri 4398678 63110
More Details
- NCT ID
- NCT06214507
- Status
- Recruiting
- Sponsor
- Rocket Pharmaceuticals Inc.
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 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. Subset of patients will be used as an External Control Arm for comparison to RP-A501 Trial participants.