PKP2-ACM Natural History Study
Recruiting now
Conditions studied: Cardiomyopathies, Heart Diseases, Cardiovascular Diseases, Genetic Diseases
In brief
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.
Key facts
- Study ID
- NCT06644742
- Run by
- Rocket Pharmaceuticals Inc.
- People needed
- 36
- Starts
- 2026-03-01
- Expected to finish
- 2031-04-01
- Last updated by the study team
- 2026-02-27
Who can join
Age: 12 and older. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- 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
You may not qualify if…
- 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.
Where it is running
- Boston Children's Hospital — Boston, Massachusetts, United States (enrolling)
- Duke University — Durham, North Carolina, United States (enrolling)
- Amsterdam UMC — Amsterdam, Netherlands
Full record on ClinicalTrials.gov
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