What is this study trying to find out about Danon disease?

This study aims to learn about the natural progression of Danon disease, a rare genetic heart condition, by collecting detailed health information over time. Researchers want to understand symptoms, key heart events, and quality of life under current care. The study is sponsored by Rocket Pharmaceuticals Inc. and helps provide important data about this serious disease.

Who may be eligible for this Danon disease clinical trial?

People aged 8 years and older with a confirmed LAMP2 gene variant may be eligible. Female participants must be between 8 and 50 years old and show evidence of heart muscle thickening. Participants must be able to provide informed consent. Please review eligibility criteria for more details.

Is there any cost to participate in this Danon disease clinical trial?

Study-related care, including all assessments and data collection, is provided at no cost. Personal travel and related expenses vary and may not be covered. Participants can expect no charges for study visits but should plan for their own travel costs.

Actively Recruiting

Age: 8Years +

All Genders

ID06214507

Observational Study on Danon Disease, a Genetic Cardiomyopathy Tracking Disease Progression in Patients 8 Years and Older

Led by Rocket Pharmaceuticals Inc. · Updated on 2026-07-28

Participants Needed

Research Sites

12 weeks

Total Duration

AI-Summary

What this Trial Is About

Researchers are conducting an international observational study to understand the natural history of Danon disease, a rare genetic disorder that severely affects the heart. The study focuses on male patients aged 8 years and older, and female patients aged 8 to 50 years. It aims to describe the clinical progression, symptoms, key health events, and quality of life impacts under current standard care. This study collects both past retrospective and ongoing prospective data from patients to create a detailed and long-term view of Danon disease. Some participants will serve as an external control group for comparison in a separate gene therapy trial RP-A501. There are no interventions or treatments given as part of this study. Participants contribute clinical information through medical records and scheduled assessments including heart imaging echocardiograms, blood tests, walking tests, symptom questionnaires, and heart function classifications at enrollment and annually up to three years. Researchers will monitor heart muscle mass, biomarkers, functional status, and major health events like heart failure or transplantation. The study aims to provide comprehensive data over several years to improve understanding of Danon disease progression and management.

CONDITIONS

Brief Title

Danon Disease Natural History Study

Who Can Participate

Age: 8Years +

All Genders

Eligibility Criteria

You may qualify if you...

Documentation of a pathogenic or likely pathogenic variant of the LAMP2 gene by a CLIA-certified genetic testing laboratory
Ability and willingness of patient or parent/legal guardian to provide signed informed consent
Age 8 years or older at enrollment
For female prospective participants, evidence of left ventricular hypertrophy within 12 months before or at enrollment
For retrospective cohort, prior cardiac transplantation or mechanical circulatory support with at least 30 days of medical records before these events
For female retrospective participants, prior evidence of left ventricular hypertrophy

You will not qualify if you...

Concurrent enrollment in any other clinical investigation involving an investigational agent that could affect this study's results
Previous treatment with gene therapy
For prospective cohort, prior mechanical circulatory support at enrollment
For prospective cohort, prior cardiac transplantation at enrollment
For female patients, age over 51 years at enrollment

Research Team

Clinical Information

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Observational Study on Danon Disease, a Genetic Cardiomyopathy Tracking Disease Progression in Patients 8 Years and Older

On this page

AI-Summary

What this Trial Is About

Brief Title

Who Can Participate

Eligibility Criteria

Research Team

Not the Right Trial for You?

On this page

Who Can Participate

Eligibility Criteria