Danon Disease Natural History Study

Danon Disease Clinical Trial

Official title:

An Observational Study of Genetic Cardiomyopathy, Danon Disease

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06214507
• Other study ID #: RP-NI-A501-0223
• Status: Recruiting
• Start date: December 20, 2023
• Est. completion date: August 31, 2026

Study information

• Verified date: October 2023
• Source: Rocket Pharmaceuticals Inc.
• Contact: Clinical Information
• Phone: 646-627-0033
• Email: clinicaltrials[@]rocketpharma.com
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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. 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 46
• Est. completion date: August 31, 2026
• Est. primary completion date: August 31, 2026
• Accepts healthy volunteers: No
• Gender: Male
• Age group: 8 Years and older

Eligibility

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. Male sex

3. Age = 8 years at enrollment

Retrospective (only) Cohort:

4. Documentation of a pathogenic or likely pathogenic variant of the LAMP2 gene by a CLIA-certified genetic testing laboratory

5. Male sex

6. Age = 8 years at enrollment

7. Cardiac transplantation or prior mechanical circulatory support in the 24 months prior to enrollment

8. At least 30 days of retrospective medical records available prior to cardiac transplantation or mechanical circulatory support

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

Related Conditions & MeSH terms

• Danon Disease

Intervention

Other:
• No intervention
No intervention

Locations

Country	Name	City	State
Germany	German Heart Center Munich	München
United States	Children's Hospital Colorado	Aurora	Colorado
United States	University of California, San Diego	La Jolla	California
United States	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania

Sponsors (1)

Lead Sponsor	Collaborator
Rocket Pharmaceuticals Inc.

Countries where clinical trial is conducted

United States,  Germany, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Left Ventricular Mass Index (LVMI) by echocardiogram	Evaluation of change over duration of follow up	12 and 24 months
Secondary	Cardiac biomarkers (hsTnI)	Evaluation of change over duration of follow up	12 and 24 months (when available)
Secondary	Cardiac biomarkers (NT-proBNP, BNP)	Evaluation of change over duration of follow up	12 and 24 months (when available)
Secondary	NYHA class	Evaluation of change over duration of follow up	6, 12, 18 and 24 months
Secondary	KCCQ	Evaluation of change over duration of follow up	6, 12, 18 and 24 months
Secondary	PedsQL	Evaluation of change over duration of follow up	6, 12, 18 and 24 months
Secondary	Event free survival with events defined as death, heart transplant, mechanical circulatory support (MCS) or heart failure hospitalization	Evaluation over duration of follow up	12 and 24 months