Patients + Community:
Plakophilin-2 related arrhythmogenic cardiomyopathy (PKP2-ACM), is an inherited heart disease associated with life-threatening arrhythmias, cardiac structural abnormalities, and sudden cardiac death.
FAQs about Rocket’s Gene Therapy Approach for PKP2-ACM
PKP2-ACM is an inherited heart disease caused by mutations in the PKP2 gene and characterized by life-threatening ventricular arrhythmias, cardiac structural abnormalities, and sudden cardiac death. PKP2-ACM affects approximately 50,000 adults and children in the U.S. and Europe. Patients living with PKP2-ACM have an urgent unmet medical need, as current medical, implantable cardioverter defibrillator (ICD), and ablation therapies do not consistently prevent disease progression or arrhythmia recurrence, are associated with significant morbidity including inappropriate shocks and device and procedure-related complications, and do not address the underlying pathophysiology or genetic mutation.
RP-A601 is being investigated as a one-time, potentially curative gene therapy treatment that may improve survival and quality of life for patients affected by this devastating disease. Patients receive a single (one-time) intravenous infusion with an engineered, non-active adeno-associated (AAV) virus that delivers the corrected version of the PKP2 gene, in an effort to restore normal PKP2 function in the affected heart tissue.
- Eligible patients are adults with a clinical diagnosis of ACM as defined by the 2010 revised Task Force Criteria (TFC), documentation of a pathogenic or likely pathogenic truncating variant in PKP2, anti-AAVrh.74 capsid neutralizing antibody titer ≤1:40, and history of implantable cardioverter-defibrillator (ICD) implantation ≥6 months prior to enrollment.
- Ineligible patients have cardiomyopathy related to a genetic etiology other than PKP2 truncating variant, previously participated in a study of gene transfer or gene editing, severe right ventricular (RV) dysfunction, left ventricular ejection fraction by echocardiogram ≤50%, or New York Heart Association (NYHA) Class IV heart failure.
- Enrollment in the study has not yet begun. Please contact firstname.lastname@example.org.
Before you begin the study, you will need to have several tests to determine eligibility for the trial. After the doctors conducting the study confirm that you are eligible, the study will involve a single-dose infusion of the investigational gene therapy (RP-A601) in a hospital setting. Following the infusion, patients will be monitored and return for follow-up visits throughout the duration of the study.
Travel arrangements, hotel accommodations for patients and a family member, and daily meals / incidentals allowance for the initial evaluation, treatment, and follow-up visits will be provided.
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