Summary

Eligibility
for males ages 8 years and up (full criteria)
Location
at La Jolla, California and other locations
Dates
study started
completion around

Description

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.

Official Title

An Observational Study of Genetic Cardiomyopathy, Danon Disease

Details

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.

Keywords

Danon Disease, LAMP2, Lysosome-associated membrane protein 2, Cardiomyopathy, X-linked, Glycogen Storage Disease Type IIb, Prospective

Eligibility

You can join if…

Open to males ages 8 years and up

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

You CAN'T join if...

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

Locations

  • University of California, San Diego accepting new patients
    La Jolla California 92037 United States
  • Phoenix Children's Hospital accepting new patients
    Phoenix Arizona 85016 United States

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
Rocket Pharmaceuticals Inc.
ID
NCT06214507
Study Type
Observational
Participants
Expecting 46 study participants
Last Updated