PKP2-ACM Natural History Study

Launched by ROCKET PHARMACEUTICALS INC. · Oct 14, 2024

Keywords

ClinConnect Summary

The PKP2-ACM Natural History Study is designed to learn more about a specific type of heart condition called Arrhythmogenic Cardiomyopathy (ACM), particularly in patients with a genetic change known as a PKP2 variant. The study aims to understand how this condition progresses over time in patients who are receiving standard care. Although the trial is not yet recruiting participants, it will include individuals aged 12 and older who have been diagnosed with ACM, have undergone genetic testing confirming the presence of a PKP2 variant, and have a history of having an implantable cardioverter-defibrillator (ICD) for at least six months.

To be eligible for this study, participants must meet certain criteria, such as having a heart function that is still relatively strong and being able to participate fully in the study’s procedures. If someone joins the study, they can expect to undergo regular check-ups and monitoring to help researchers gather important information about their health and how ACM affects them over time. This study is important because it will help doctors better understand this condition and improve care for future patients.

Gender

ALL

Eligibility 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) as defined by the 2010 revised Task Force Criteria (TFC)
• • 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.