Observational Study on Patient Characteristics, Disease Course, and Treatment in Adults With Arrhythmogenic Cardiomyopathy Due to PKP2 Genetic Variant

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.

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