Renovacor, Inc. announced it has expanded its pipeline to advance an AAV gene therapy program as a potential precision therapy for three genetic segments of arrhythmogenic cardiomyopathy (ACM). To accelerate this new program, Renovacor has entered into a research collaboration with the University of Utah's Nora Eccles Harrison Cardiovascular Research and Training Institute (CVRTI). The terms of the research agreement grant Renovacor an option for an exclusive license to inventions generated from the collaboration.

The research collaboration will focus on a protein discovered by University of Utah scientists that has the potential to address multiple genetic segments of ACM. The new program is being developed as an AAV-based gene therapy to treat potentially life-threatening arrhythmias associated with the disease by restoring gap junction protein trafficking and gap junction communication between heart muscle cells. The program will be developed for the three largest genetic segments of ACM: plakophilin-2 (PKP2), desmoglein-2 (DSG2), and desmoplakin (DSP) associated ACM.

Currently available treatment options do not address the trafficking defects central to each of the these genetically-driven forms of ACM. The collaboration leverages positive proof-of-concept data generated in a genetic mouse model of ACM that was performed by the Shaw Lab, led by Robin Shaw, M.D., Ph.D., Professor of Medicine at the University of Utah and Director of the CVRTI. These data demonstrate restoration of gap junction trafficking to the intercalated disc and a significant reduction in premature ventricular contractions (PVCs).

PVCs are a hallmark of ACM and key drivers of potentially lethal ventricular arrhythmias. Arrhythmogenic cardiomyopathy (ACM) is a heritable heart muscle disorder that can affect the left and right ventricle. It is characterized by a heightened risk of potentially lethal ventricular arrhythmias, fibrofatty replacement of myocardial tissue, and in some patients, heart failure.(1,2) It is recognized as a disease of the desmosome, with well-defined genetic drivers.

The prevalence of ACM is estimated to range from 1 case in 1,000 persons to 1 case in 5,000, with an average age of diagnosis of approximately 30 years.(1-3) Current treatment options aim to prevent potentially life-threatening arrhythmias and progression to end-stage disease, but they do not target the underlying genetics or disease biology and, as such, patients can continue to experience serious breakthrough events.