A Study to Assess Real-world Patient Characteristics and Clinical Course for Symptomatic Patients With PKP2-ACM

SNAPSHOT-PKP2 is an observational, multicenter study that consists of 2 parts, a retrospective EMR review (up to 2 years) and a prospective observational study (1 year), to evaluate the clinical burden of illness of patients with PKP2-ACM, and to prospectively evaluate changes in key cardiac parameters and patient-reported outcome measures (PROMs) associated with PKP2-ACM progression.

Inclusion criteria

• Adults with a clinical diagnosis of ACM as defined by the 2010 revised Task Force Criteria (TFC)
• Documentation of a pathogenic or likely pathogenic truncating variant in PKP2
• Frequent premature ventricular contractions (PVCs)
• Patients must have an ICD placed prior to enrollment
• Left ventricular ejection fraction (LVEF) ≥ 50% for Part A participants. Left ventricular ejection fraction (LVEF) ≥40% for Part B participants.

Exclusion criteria

• Evidence of variant(s) in addition to PKP2 that meet standard criteria to be considered pathogenic or likely pathogenic for an arrhythmogenic cardiomyopathy.
• A history of other cardiac abnormalities as specified in the protocol.
• New York Heart Association symptoms of heart failure of Class IV at the time of consent.
• A history of prior gene transfer therapy.