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Recruiting NCT06214507

Danon Disease Natural History Study

— Observational Danon Disease

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: No intervention.
Who it may be relevant to
Registry conditions: Danon Disease. Basic parameters: from 8 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
United States, Germany, Israel, Italy, Spain +1
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

An Observational Study of Genetic Cardiomyopathy, Danon Disease

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 (8 to 50 years of age).

Detailed 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, 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 as managed with the current standard of care. A hybrid (retrospective and prospective data collection) approach is being used to generate robust and longitudinal data. A subset of patients will be used as an External Control Arm for comparison to RP-A501 Trial participants.

Interventions

  • Other No intervention
    No intervention

Primary outcome measures

  • Left Ventricular Mass Index (LVMI) by echocardiogram [Time frame: Month 12, 24, 36]
Secondary outcome measures (12)
  • Cardiac biomarkers (hsTnI) [Time frame: Month 12, 24, 36 (when available)]
  • Cardiac biomarkers (NT-proBNP, BNP) [Time frame: Month 12, 24, 36 (when available)]
  • NYHA class [Time frame: Month 12, 24, 36]
  • KCCQ-12 [Time frame: Month 12, 24, 36]
  • PedsQL [Time frame: Month 12, 24, 36]
  • Event free survival with events defined as death, heart transplant, mechanical circulatory support (MCS) or heart failure hospitalization [Time frame: Month 12, 24, 36]
  • Six Minute Walk Test [Time frame: Month 12, 24, 36]
  • CBC [Time frame: At enrollment]
  • Serum Chemistry [Time frame: At enrollment]
  • ECG [Time frame: Month 12, 24, 36]
  • Serum chemistry [Time frame: At enrollment]
  • Serum chemistry [Time frame: At enrollment]

Eligibility criteria

Prospective Cohort:

  • Documentation of a pathogenic or likely pathogenic variant of the LAMP2 gene by a CLIA-certified genetic testing laboratory
  • Patient or parent/legal guardian are capable and willing to provide signed informed consent
  • Age ≥ 8 years at enrollment

Female Prospective Cohort:

  • Evidence of left ventricular hypertrophy in the 12 months prior to or at enrollment.

Retrospective (only) Cohort:

  • Documentation of a pathogenic or likely pathogenic variant of the LAMP2 gene by a CLIA-certified genetic testing laboratory
  • Patient or parent/legal guardian are capable and willing to provide signed informed consent, as required by local regulations
  • Age ≥ 8 years at enrollment
  • Prior cardiac transplantation or prior mechanical circulatory support
  • At least 30 days of retrospective medical records available prior to cardiac transplantation or mechanical circulatory support

Female Retrospective (only) Cohort:

  • Prior evidence of left ventricular hypertrophy.

Exclusion criteria

All Cohorts:

  • 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
  • Previous treatment with a gene therapy

Prospective Cohort:

  • Prior mechanical circulatory support at time of enrollment to this study
  • Prior cardiac transplantation at time of enrollment to this study

Female patients:

  • Age >51 years at enrollment

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

United States · 9 centers
  • Phoenix Children's Hospital — Phoenix
  • University of California, San Diego — La Jolla
  • Children's Hospital Colorado — Aurora
  • University of Florida College of Medicine — Gainesville
  • University of Michigan — Ann Arbor
  • Washington University — St Louis
  • Columbia University Medical Center/New York Presbyterian — New York
  • University of Texas, Southwestern — Dallas
  • … and 1 more center
Spain · 2 centers
  • Hospital Universitario Puerta de Hierro Majadahonda — Majadahonda
  • Sant Joan de Déu Hospital — Barcelona
Germany · 1 center
  • German Heart Center Munich — München
Israel · 1 center
  • Sheba Medical Center — Ramat Gan
Italy · 1 center
  • Azienda Ospedaliera Universitaria Meyer IRCCS — Florence
United Kingdom · 1 center
  • University College London - Great Ormond Street Institute of Child Health — London

Identifiers

NCT: NCT06214507 · RP-NI-A501-0223 · LAMPLIGHT-NH

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗