PKP2-ACM Natural History Study
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Cardiomyopathies, Heart Diseases, Cardiovascular Diseases, Genetic Diseases. Basic parameters: from 12 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States, Netherlands
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
The Natural History of Arrhythmogenic Cardiomyopathy With Pathogenic Plakophilin-2 Variants (PKP2-ACM): An Observational Cohort Study
Overview
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.
Detailed 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.
Primary outcome measures
- Heart rhythm and rate monitoring measures [Time frame: 36 months]
- Cardiac biomarkers [Time frame: 36 months]
Secondary outcome measures (6)
- Characterize cardiovascular events [Time frame: 36 months]
- Evaluate patient reported outcomes and quality of life measures [Time frame: 36 months]
- Interrogate ICDs [Time frame: 36 months]
- Evaluate changes in health status [Time frame: 36 months]
- Cardiac Structure and Performance [Time frame: 36 months]
- Evaluate genetics [Time frame: Cross sectional]
Eligibility criteria
Inclusion criteria
Patients must meet all the following criteria (and none of the exclusion criteria) to be eligible for study participation:
- Male or female age 12 years or older at the time of providing informed consent (i.e., ICF provision).
- 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.
- Clinical diagnosis of arrhythmogenic cardio myopathy (ACM)
- Documentation of a pathogenic or likely pathogenic variant in PKP2 by a CLIA-certified genetic testing laboratory
- History of ICD implantation ≥6 months prior to ICF provision
- Left ventricular ejection fraction by echocardiogram or cardiac magnetic resonance (CMR) ≥50% at ≤12 months prior to ICF provision
Exclusion criteria
Patients meeting any of the following criteria are excluded from study participation:
- Gene testing indicates that the subject's arrhythmia or cardiomyopathy may be related to a genetic etiology other than PKP2 truncating variant.
- Concurrent participation in any other clinical investigation involving use of an investigational agent that could confound results of this study.
- Previous participation in a study of gene transfer or gene editing.
- NYHA Class IV heart failure.
- Presence or requirement for mechanical circulatory support (MCS) or predicted need for MCS or heart transplantation within 6 months of enrollment.
- Prior cardiac or other organ (lung, liver, other) transplantation.
- Pacemaker dependent rhythm documented, as assessed by the principal investigator ≤12 months prior to enrollment.
- Positive human immunodeficiency virus (HIV) antibody test.
- Unwillingness to comply with study procedures, including follow-up as specified by this protocol, or unwillingness to fully cooperate with the investigator.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
United States · 2 centers
- Boston Children's Hospital — Boston
- Duke University — Durham
Netherlands · 1 center
- Amsterdam UMC — Amsterdam
Identifiers
NCT: NCT06644742 · RP-NI-A601-0124