Danon Disease Natural History Study

Last updated: January 27, 2025
Sponsor: Rocket Pharmaceuticals Inc.
Overall Status: Active - Recruiting

Phase

N/A

Condition

Glycogen Storage Disease (Gsd)

Treatment

No intervention

Clinical Study ID

NCT06214507
RP-NI-A501-0223
  • Ages > 8
  • All Genders

Study 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 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.

Eligibility Criteria

Inclusion

Inclusion Criteria:

Prospective Cohort:

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

  2. Patient or parent/legal guardian are capable and willing to provide signed informedconsent

  3. Age ≥ 8 years at enrollment Female Prospective Cohort:

  4. Evidence of left ventricular hypertrophy with preserved systolic function in the 12months 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 aCLIA-certified genetic testing laboratory

  6. Patient or parent/legal guardian are capable and willing to provide signed informedconsent, 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 cardiactransplantation or mechanical circulatory support Female Retrospective (only) Cohort:

  10. Prior evidence of left ventricular hypertrophy.

Exclusion

Exclusion Criteria:

All Cohorts:

  1. Concurrent enrollment in any other clinical investigation involving use of aninvestigational agent for any condition at time of enrollment to this study thatcould 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

Total Participants: 46
Treatment Group(s): 1
Primary Treatment: No intervention
Phase:
Study Start date:
December 20, 2023
Estimated Completion Date:
August 31, 2026

Study 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.

Connect with a study center

  • German Heart Center Munich

    München,
    Germany

    Active - Recruiting

  • Sheba Medical Center

    Ramat Gan, 5265601
    Israel

    Active - Recruiting

  • Azienda Ospedaliero Universitaria

    Firenze, 50139
    Italy

    Active - Recruiting

  • University College London - Great Ormond Street Institute of Child Health

    London, WC1N 1DZ
    United Kingdom

    Active - Recruiting

  • Phoenix Children's Hospital

    Phoenix, Arizona 85016
    United States

    Active - Recruiting

  • University of California, San Diego

    La Jolla, California 92037
    United States

    Active - Recruiting

  • Children's Hospital Colorado

    Aurora, Colorado 80045
    United States

    Active - Recruiting

  • University of Florida College of Medicine

    Gainesville, Florida 32610
    United States

    Active - Recruiting

  • Washington University

    St. Louis, Missouri 63110
    United States

    Active - Recruiting

  • Columbia University Medical Center/New York Presbyterian

    New York, New York 10032
    United States

    Active - Recruiting

  • Children's Hospital of Philadelphia

    Philadelphia, Pennsylvania 19104
    United States

    Active - Recruiting

  • Texas Children's Hospital

    Houston, Texas 77030
    United States

    Active - Recruiting

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