Study of Pre-existing Antibodies to AAV9 and Disease Progression in Patients with PKP2-Associated Arrhythmogenic Right Ventricular Cardiomyopathy

What this Trial Is About

Researchers are conducting a multicenter, non-interventional observational study to understand the natural progression of Arrhythmogenic Right Ventricular Cardiomyopathy ARVC in patients with PKP2 gene mutations. The study also aims to assess how common pre-existing antibodies to the AAV9 virus, which is used in gene therapy, are in this patient population. Participation is encouraged for all patients, regardless of their interest in or eligibility for gene therapy. Patients will continue their usual medical care under their healthcare providers. The study involves collecting biological samples annually to measure heart-related and other biomarkers, alongside prospective clinical and observational data collection for up to five years or until events such as heart transplantation or death occur. There may also be a one-time genetic sample collection for research if consent is given. Participants will complete Quality of Life questionnaires, and if not part of their standard care, yearly heart rhythm monitoring using Holter or equivalent devices will be performed. No experimental treatments will be given during this study. Participants will be observed both retrospectively and prospectively. Researchers will review clinical data, imaging, and biomarker results, focusing on antibody presence, illness burden, arrhythmic risk, heart function, and patients quality of life over five years. The study includes regular assessments and monitoring to gather comprehensive data on disease progression and patient wellbeing, with no additional interventions beyond standard care.

Non-interventional Study of Seroprevalence of Pre-existing Antibodies Against Adenovirus-associated Virus Vector (AAV9) and the Progression of Disease in Patients With Plakophilin 2 (PKP2)-Associated Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)