Danon Disease Natural History Study

Description

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.

Conditions

Danon Disease

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Study Overview

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Study Details

Study overview

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.

An Observational Study of Genetic Cardiomyopathy, Danon Disease

Danon Disease Natural History Study

Condition
Danon Disease
Intervention / Treatment

-

Contacts and Locations

Phoenix

Phoenix Children's Hospital, Phoenix, Arizona, United States, 85016

La Jolla

University of California, San Diego, La Jolla, California, United States, 92037

Aurora

Children's Hospital Colorado, Aurora, Colorado, United States, 80045

Gainesville

University of Florida College of Medicine, Gainesville, Florida, United States, 32610

St. Louis

Washington University, St. Louis, Missouri, United States, 63110

New York

Columbia University Medical Center/New York Presbyterian, New York, New York, United States, 10032

Philadelphia

Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States, 19104

Houston

Texas Children's Hospital, Houston, Texas, United States, 77030

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • 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
  • 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:
  • 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
  • 10. Prior evidence of left ventricular hypertrophy.
  • 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
  • 3. Prior mechanical circulatory support at time of enrollment to this study
  • 4. Prior cardiac transplantation at time of enrollment to this study
  • 5. Age \>30 years at enrollment

Ages Eligible for Study

8 Years to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Rocket Pharmaceuticals Inc.,

Study Record Dates

2026-08-31