Observing the natural history of Danon disease

An Observational Study of Genetic Cardiomyopathy, Danon Disease

This study looks at how Danon disease affects boys over 8 and girls under 30 over time to see changes in their heart health, symptoms, and quality of life.

Quick facts

• Study type: Observational
• Enrollment: 60 (estimated)
• Ages: 8 Years and up
• Sex: All
• Sponsor: Rocket Pharmaceuticals Inc. (Industry-sponsored)
• Locations: 13 sites (Phoenix, Arizona and 12 other locations)
• Trial ID: NCT06214507 on ClinicalTrials.gov

What this trial studies

This international observational study aims to understand the natural history of Danon disease in male patients over 8 years old and female patients under 30. It will assess changes over time in cardiac structure, biomarkers, symptoms, and quality of life, as well as the incidence of clinical events like heart failure hospitalization and cardiac transplantation. The study employs both retrospective and prospective data collection to generate robust longitudinal data on this rare genetic disorder. A subset of patients will serve as an External Control Arm for comparison with participants in another trial.

Who should consider this trial

Good fit: Ideal candidates include male patients over 8 years old and female patients under 30 with a documented pathogenic variant of the LAMP2 gene.

Not a fit: Patients without a pathogenic variant of the LAMP2 gene or those outside the specified age range may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could provide valuable insights into the progression and management of Danon disease, potentially improving patient care.

How similar studies have performed: While this study focuses on the natural history of Danon disease, similar observational studies in rare genetic disorders have shown success in understanding disease progression and improving management strategies.

Eligibility criteria

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

Where this trial is running

Phoenix, Arizona and 12 other locations

• Phoenix Children's Hospital — Phoenix, Arizona, United States (Recruiting)
• University of California, San Diego — La Jolla, California, United States (Recruiting)
• Children's Hospital Colorado — Aurora, Colorado, United States (Recruiting)
• University of Florida College of Medicine — Gainesville, Florida, United States (Recruiting)
• University of Michigan — Ann Arbor, Michigan, United States (Recruiting)
• Washington University — St Louis, Missouri, United States (Recruiting)
• Columbia University Medical Center/New York Presbyterian — New York, New York, United States (Recruiting)
• Texas Children's Hospital — Houston, Texas, United States (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, Spain (Recruiting)
• University College London - Great Ormond Street Institute of Child Health — London, United Kingdom (Recruiting)

Study contacts

• Study coordinator: Clinical Information

Conditions Danon Disease; LAMP2; Lysosome-associated membrane protein 2; Cardiomyopathy; X-linked