Clinical Trials in Italy / NCT06214507
Recruiting
Observational
Danon Disease Natural History Study
NCT06214507 · tracked via the Priya Life Science Italy tracker
Condition(s) studied
Danon Disease
Investigational drug(s) / intervention(s)
No intervention
No intervention: No intervention
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 (8 to 50 years of age).
Eligibility
Prospective Cohort:
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
Female Prospective Cohort:
4. Evidence of left ventricular hypertrophy in the 12 months prior to or at enrollment.
Retrospective (only) Cohort:
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
Female Retrospective (only) Cohort:
10. Prior evidence of left ventricular hypertrophy.
Key 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
Female patients:
5. Age \>51 years at enrollment
Primary outcome measure(s)
- Left Ventricular Mass Index (LVMI) by echocardiogram — Month 12, 24, 36
Evaluation of change over duration of follow up
Trial sites (15)
| Facility | City | Region | Status |
|---|---|---|---|
| Phoenix Children's Hospital | Phoenix | Arizona | Recruiting |
| University of California, San Diego | La Jolla | California | Recruiting |
| Children's Hospital Colorado | Aurora | Colorado | Recruiting |
| University of Florida College of Medicine | Gainesville | Florida | Recruiting |
| University of Michigan | Ann Arbor | Michigan | Recruiting |
| Washington University | St Louis | Missouri | Recruiting |
| Columbia University Medical Center/New York Presbyterian | New York | New York | Recruiting |
| University of Texas, Southwestern | Dallas | Texas | Recruiting |
| Texas Children's Hospital | Houston | Texas | Recruiting |
| German Heart Center Munich | München | Germany | Recruiting |
| Sheba Medical Center | Ramat Gan | Israel | Recruiting |
| Azienda Ospedaliera Universitaria Meyer IRCCS | Florence | Italy | Recruiting |
| Hospital Universitario Puerta de Hierro Majadahonda | Majadahonda | Madrid | Recruiting |
| Sant Joan de Déu Hospital | Barcelona | Spain | Recruiting |
| University College London - Great Ormond Street Institute of Child Health | London | United Kingdom | Recruiting |
More Rocket Pharmaceuticals Inc. trials in Italy
Other trials for the same condition
Official registry record
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
View NCT06214507 on ClinicalTrials.gov ↗ ← All trials in Italy