An Observational Study of Genetic Cardiomyopathy, Danon Disease
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).
‣ 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.