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

Recruiting

• Conditions: PKP2-ARVC; Arrhythmogenic Cardiomyopathy; PKP2-ACM

• Registration Number: NCT06976606
• Lead Sponsor: Lexeo Therapeutics

Brief Summary

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

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.

Study Timeline

• Study Start: 2024-01-23
• Study First Submitted: 2024-03-28
• Status Verified: 2025-05
• Study First Submitted QC: 2025-05-13
• Last Update Submitted: 2025-05-13
• Study First Posted: 2025-05-16
• Last Update Posted: 2025-05-16
• Primary Completion: 2027-07
• Study Completion: 2027-09

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 40

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

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Premature ventricular contractions (PVC)	12 months	Change from baseline

Secondary Outcome Measures

Name	Time	Method
Ventricular arrhythmias and associated clinical events	12 months	Change from baseline by interrogation of implanted cardioverter defibrillator and remote cardiac monitoring
ECG parameters	12 months	Change from baseline
Cardiac structure and function	12 months	Change from baseline via cardiac MRI and echocardiogram
Patient reported outcomes	12 months	Patients' Global Impression of Severity (PGIS) scale, measuring patient perception of disease progression.
Cardiac Biomarkers	12 months	Change from baseline
Health resource utilization	12 months	Number of ED, urgent care and outpatient visits, and hospitalizations

Trial Locations

Locations (6)

Leland Stanford Junior University; 🇺🇸 Redwood City, California, United States

Johns Hopkins University; 🇺🇸 Baltimore, Maryland, United States

Northshore University Healthsystem Research Institute; 🇺🇸 Columbia, Maryland, United States

University of Michigan; 🇺🇸 Ann Arbor, Michigan, United States

Henry Ford Hospital; 🇺🇸 Detroit, Michigan, United States

University of Rochester; 🇺🇸 Rochester, New York, United States