Clinical Trials in the Netherlands / NCT06644742
Recruiting Observational

PKP2-ACM Natural History Study

NCT06644742 · tracked via the Priya Life Science Netherlands tracker
Phase
Observational
Started
2026-03
Last updated
2026-02-27

Condition(s) studied

CardiomyopathiesHeart DiseasesCardiovascular DiseasesGenetic Diseases

Study 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.

Eligibility

Sex
ALL
Min age
12 Years
Max age
—
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. History of ICD implantation ≥6 months prior to ICF provision 6. 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: 1. Gene testing indicates that the subject's arrhythmia or cardiomyopathy may be related to a genetic etiology other than PKP2 truncating variant. 2. Concurrent participation in any other clinical investigation involving use of an investigational agent that could confound results of this study. 3. Previous participation in a study of gene transfer or gene editing. 4. NYHA Class IV heart failure. 5. Presence or requirement for mechanical circulatory support (MCS) or predicted need for MCS or heart transplantation within 6 months of enrollment. 6. Prior cardiac or other organ (lung, liver, other) transplantation. 7. Pacemaker dependent rhythm documented, as assessed by the principal investigator ≤12 months prior to enrollment. 8. Positive human immunodeficiency virus (HIV) antibody test. 9. Unwillingness to comply with study procedures, including follow-up as specified by this protocol, or unwillingness to fully cooperate with the investigator.

Primary outcome measure(s)

Trial sites (3)

FacilityCityRegionStatus
Boston Children's Hospital Boston Massachusetts Recruiting
Duke University Durham North Carolina Recruiting
Amsterdam UMC Amsterdam Netherlands Not Yet Recruiting

Other trials for the same condition

Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06644742 on ClinicalTrials.gov ↗ ← All trials in the Netherlands