Danon Disease Natural History Study

Inclusion Criteria14

• 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.