Natural history of PKP2-related arrhythmogenic cardiomyopathy

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational, hybrid (retrospective and prospective) registry will gather clinical records, imaging, event histories, and patient-reported quality-of-life data from people with pathogenic or likely pathogenic PKP2 variants and a clinical diagnosis of arrhythmogenic cardiomyopathy. Key clinical events, symptoms, device therapies, and functional status will be documented over time to create a longitudinal picture of disease course under usual care. Enrollment is limited to patients age 12 and older who meet genetic and device criteria, and data collection may include periodic follow-up visits or chart review depending on the site and participant. The goal is to generate robust natural-history data that can inform prognosis, timing of interventions, and future research priorities for PKP2-ACM.

Why it matters

Who can join: the full rules

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.

Where it's running

• Boston Children's Hospital
  Boston, Massachusetts, United States Recruiting
• Duke University
  Durham, North Carolina, United States Recruiting
• Amsterdam UMC
  Amsterdam, Netherlands Not yet recruiting

Study contacts

• Study coordinator: Clinical Information
• Email: clinicaltrials@rocketpharma.com
• Phone: 646-627-0033

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.