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

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

ArmDescriptionAssigned Intervention
Prospective
  • Other: No intervention
    No intervention
Retrospective only
  • Other: No intervention
    No intervention

Recruiting Locations

Washington University in St. Louis and nearby locations

Washington University
St Louis 4407066, Missouri 4398678 63110
Contact:
Charles Canter, MD
314-286-2404
canter@wustl.edu

More Details

NCT ID
NCT06214507
Status
Recruiting
Sponsor
Rocket Pharmaceuticals Inc.

Study Contact

Clinical Information
646-627-0033
clinicaltrials@rocketpharma.com

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.

Notice

Study information shown on this site is derived from ClinicalTrials.gov (a public registry operated by the National Institutes of Health). The listing of studies provided is not certain to be all studies for which you might be eligible. Furthermore, study eligibility requirements can be difficult to understand and may change over time, so it is wise to speak with your medical care provider and individual research study teams when making decisions related to participation.