PKP2-ACM Natural History Study

Exclusion Criteria16

• Male or female age 12 years or older at the time of providing informed consent (i.e., ICF provision).
• Capable and willing to provide signed informed consent and/or assent, which includes compliance with the requirements and restrictions listed in the ICF and protocol.
• Clinical diagnosis of arrhythmogenic cardio myopathy (ACM)
• Documentation of a pathogenic or likely pathogenic variant in PKP2 by a CLIA-certified genetic testing laboratory
• History of ICD implantation ≥6 months prior to ICF provision
• Left ventricular ejection fraction by echocardiogram or cardiac magnetic resonance (CMR) ≥50% at ≤12 months prior to ICF provision
• Patients meeting any of the following criteria are excluded from study participation:
• Gene testing indicates that the subject's arrhythmia or cardiomyopathy may be related to a genetic etiology other than PKP2 truncating variant.
• Concurrent participation in any other clinical investigation involving use of an investigational agent that could confound results of this study.
• Previous participation in a study of gene transfer or gene editing.
• NYHA Class IV heart failure.
• Presence or requirement for mechanical circulatory support (MCS) or predicted need for MCS or heart transplantation within 6 months of enrollment.
• Prior cardiac or other organ (lung, liver, other) transplantation.
• Pacemaker dependent rhythm documented, as assessed by the principal investigator ≤12 months prior to enrollment.
• Positive human immunodeficiency virus (HIV) antibody test.
• Unwillingness to comply with study procedures, including follow-up as specified by this protocol, or unwillingness to fully cooperate with the investigator.