Natural history of PKP2-related arrhythmogenic cardiomyopathy
The Natural History of Arrhythmogenic Cardiomyopathy With Pathogenic Plakophilin-2 Variants (PKP2-ACM): An Observational Cohort Study
This project will collect past and ongoing health information to see how PKP2-related arrhythmogenic cardiomyopathy progresses in people managed with standard care.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 36 (estimated) |
| Ages | 12 Years and up |
| Sex | All |
| Sponsor | Rocket Pharmaceuticals Inc. Industry-sponsored |
| Locations | 3 sites (Boston, Massachusetts and 2 other locations) |
| Trial ID | NCT06644742 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates are people age 12 or older with a clinical diagnosis of arrhythmogenic cardiomyopathy, a pathogenic or likely pathogenic PKP2 variant from a CLIA lab, an implantable cardioverter-defibrillator placed at least six months earlier, and left ventricular ejection fraction ≥50% within the prior 12 months who can provide consent.
Not a fit: Patients without a pathogenic PKP2 variant, those whose cardiomyopathy is linked to other genes, those without an ICD or with LVEF below 50% as specified, or those unable to provide consent are unlikely to qualify or benefit from this registry.
Why it matters
Potential benefit: If successful, the study could improve understanding of disease course and help guide risk stratification and management for people with PKP2 variants.
How similar studies have performed: Prior natural-history and registry studies of arrhythmogenic cardiomyopathy have provided useful prognostic information, but focused hybrid registries specifically targeting PKP2-related disease are relatively limited.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
Boston, Massachusetts and 2 other locations
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.