An Observational Study of Genetic Cardiomyopathy, Danon Disease
Rocket Pharmaceuticals Inc.
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).
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 robus…
Eligibility
- Age range
- 8+ years
- Sex
- All
- Healthy volunteers
- No
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…
Interventions
- OtherNo intervention
No intervention
Locations (13)
- Phoenix Children's HospitalPhoenix, Arizona
- University of California, San DiegoLa Jolla, California
- Children's Hospital ColoradoAurora, Colorado
- University of Florida College of MedicineGainesville, Florida
- University of MichiganAnn Arbor, Michigan
- Washington UniversitySt Louis, Missouri