Overview
An observational study to assess real-world patient characteristics and clinical course of disease in participants with PKP2-ACM.
Description
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.
Eligibility
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.