A Study to Assess Real-world Patient Characteristics and Clinical Course for Symptomatic Patients With PKP2-ACM
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: Arrhythmogenic Cardiomyopathy, PKP2-ACM, PKP2-ARVC. Basic parameters: 18 years — 65 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
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
An Observational Study to Assess Real-world Patient Characteristics, Clinical Course, and Treatment Patterns for Symptomatic Patients With Arrhythmogenic Cardiomyopathy (ACM) Due To a PlaKoPhilin-2 Pathogenic Variant (PKP2)
Overview
An observational study to assess real-world patient characteristics and clinical course of disease in participants with PKP2-ACM.
Detailed description
SNAPSHOT-PKP2 is an observational, multicenter study that consists of 2 parts, a retrospective EMR review (up to 2 years) and a prospective observational study (1 year), to evaluate the clinical burden of illness of patients with PKP2-ACM, and to prospectively evaluate changes in key cardiac parameters and patient-reported outcome measures (PROMs) associated with PKP2-ACM progression.
Primary outcome measures
- Premature ventricular contractions (PVC) [Time frame: 12 months]
Secondary outcome measures (7)
- Ventricular arrhythmias and associated clinical events [Time frame: 12 months]
- ECG parameters [Time frame: 12 months]
- Cardiac structure and function [Time frame: 12 months]
- Patient reported outcomes [Time frame: 12 months]
- Patient reported outcomes [Time frame: 12 months]
- Cardiac Biomarkers [Time frame: 12 months]
- Health resource utilization [Time frame: 12 months]
Eligibility criteria
Inclusion criteria
- Adults with a clinical diagnosis of ACM as defined by the 2010 revised Task Force Criteria (TFC)
- Documentation of a pathogenic or likely pathogenic truncating variant in PKP2
- Frequent premature ventricular contractions (PVCs)
- Patients must have an ICD placed prior to enrollment
- Left ventricular ejection fraction (LVEF) ≥ 50% for Part A participants. Left ventricular ejection fraction (LVEF) ≥40% for Part B participants.
Exclusion criteria
- Evidence of variant(s) in addition to PKP2 that meet standard criteria to be considered pathogenic or likely pathogenic for an arrhythmogenic cardiomyopathy.
- A history of other cardiac abnormalities as specified in the protocol.
- New York Heart Association symptoms of heart failure of Class IV at the time of consent.
- A history of prior gene transfer therapy.
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
- Case-only
Study locations
United States · 6 centers
- Leland Stanford Junior University — Redwood City
- Johns Hopkins University — Baltimore
- Northshore University Healthsystem Research Institute — Columbia
- University of Michigan — Ann Arbor
- Henry Ford Hospital — Detroit
- University of Rochester — Rochester
Identifiers
NCT: NCT06976606 · LX2020-03