Actively Recruiting

Age: 18Years - 65Years
All Genders
ID06976606

An Observational Study to Assess Real-world Patient Characteristics, Clinical Course, and Treatment Patterns for Symptomatic Patients With Arrhythmogenic Cardiomyopathy Due To a PlaKoPhilin-2 Pathogenic Variant (PKP2)

Led by Lexeo Therapeutics · Updated on 2025-05-16

40

Participants Needed

6

Research Sites

8 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

This research aims to understand the real-world characteristics and clinical progression of patients with arrhythmogenic cardiomyopathy caused by a PlaKoPhilin-2 (PKP2) pathogenic variant. It is an observational study designed to evaluate the clinical burden of PKP2-ACM and monitor changes in important cardiac measures and patient-reported outcomes over time. The study includes two parts: a retrospective review of medical records covering up to two years and a prospective observation period lasting one year. During this time, researchers will assess key heart parameters and track patient-reported symptoms and health resource use to study disease progression without administering any experimental treatments. Participants will be involved for about one year in the prospective part, during which their heart function and arrhythmia events will be monitored through ECGs, imaging, and biomarker tests. Patient questionnaires and clinical data collection will help measure outcomes such as premature ventricular contractions and other cardiac events. Safety and health resource usage will also be observed throughout the study.

CONDITIONS

Brief Title

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

Who Can Participate

Age: 18Years - 65Years
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Adults with a clinical diagnosis of arrhythmogenic cardiomyopathy (ACM) based on the 2010 revised Task Force Criteria
  • Documentation of a pathogenic or likely pathogenic truncating variant in the PKP2 gene
  • Frequent premature ventricular contractions (PVCs)
  • Implantable cardioverter defibrillator (ICD) placed before enrollment
  • Left ventricular ejection fraction (LVEF) of 50% or higher for Part A participants
  • Left ventricular ejection fraction (LVEF) of 40% or higher for Part B participants
Not Eligible

You will not qualify if you...

  • Presence of additional pathogenic or likely pathogenic variants beyond PKP2 associated with arrhythmogenic cardiomyopathy
  • History of other specified cardiac abnormalities
  • New York Heart Association Class IV heart failure symptoms at time of consent
  • Previous gene transfer therapy

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Monitoring

Duration - 1 year

Participants are observed prospectively to evaluate changes in key cardiac parameters and patient-reported outcomes associated with PKP2-ACM progression.

Regular visits during the 12 months of observation

Trial Site Locations

Total: 6 locations

1

Leland Stanford Junior University

Redwood City, California, United States, 94063-3126

Actively Recruiting

2

Johns Hopkins University

Baltimore, Maryland, United States, 21287

Actively Recruiting

3

Northshore University Healthsystem Research Institute

Columbia, Maryland, United States, 21044

Actively Recruiting

4

University of Michigan

Ann Arbor, Michigan, United States, 48109

Actively Recruiting

5

Henry Ford Hospital

Detroit, Michigan, United States, 48202

Actively Recruiting

6

University of Rochester

Rochester, New York, United States, 14642

Actively Recruiting

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Research Team

P

Person*: Lexeo Clinical Trials

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

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