The Natural History of Arrhythmogenic Cardiomyopathy With Pathogenic Plakophilin-2 Variants (PKP2-ACM): An Observational Cohort Study
Rocket Pharmaceuticals Inc.
Summary
The goal of this study is to describe the natural history and clinical events for patients who have Arrhythmogenic Cardiomyopathy with Pathogenic Plakophilin-2 Variants (PKP2-ACM) managed with standard of care.
Description
This is an observational study with both retrospective and prospective data collection. The study is designed to describe the natural history of PKP2-ACM including the signs and symptoms, key clinical events, and impact of the disease on quality of life. A hybrid (retrospective and prospective data collection) approach is being taken with the aim of achieving robust and longitudinal data generation.
Eligibility
- Age range
- 12+ years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria Patients must meet all the following criteria (and none of the exclusion criteria) to be eligible for study participation: 1. Male or female age 12 years or older at the time of providing informed consent (i.e., ICF provision). 2. Capable and willing to provide signed informed consent and/or assent, which includes compliance with the requirements and restrictions listed in the ICF and protocol. 3. Clinical diagnosis of arrhythmogenic cardio myopathy (ACM) 4. Documentation of a pathogenic or likely pathogenic variant in PKP2 by a CLIA-certified genetic testing laboratory 5.…
Locations (3)
- Boston Children's HospitalBoston, Massachusetts
- Duke UniversityDurham, North Carolina
- Amsterdam UMCAmsterdam