A Study to Assess Real-world Patient Characteristics and Clinical Course for Symptomatic Patients With PKP2-ACM
Purpose
An observational study to assess real-world patient characteristics and clinical course of disease in participants with PKP2-ACM.
Conditions
- Arrhythmogenic Cardiomyopathy
- PKP2-ACM
- PKP2-ARVC
Eligibility
- Eligible Ages
- Between 18 Years and 65 Years
- Eligible Sex
- All
- Accepts Healthy Volunteers
- No
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.
Study Design
- Phase
- Study Type
- Observational [Patient Registry]
- Observational Model
- Case-Only
- Time Perspective
- Other
Recruiting Locations
Leland Stanford Junior University
Redwood City 5386834, California 5332921 94063-3126
Redwood City 5386834, California 5332921 94063-3126
Johns Hopkins University
Baltimore 4347778, Maryland 4361885 21287
Baltimore 4347778, Maryland 4361885 21287
Northshore University Healthsystem Research Institute
Columbia 4352053, Maryland 4361885 21044
Columbia 4352053, Maryland 4361885 21044
University of Michigan
Ann Arbor 4984247, Michigan 5001836 48109
Ann Arbor 4984247, Michigan 5001836 48109
University of Rochester
Rochester 5134086, New York 5128638 14642
Rochester 5134086, New York 5128638 14642
More Details
- NCT ID
- NCT06976606
- Status
- Recruiting
- Sponsor
- Lexeo Therapeutics
Detailed 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.