Benefit

Technology Description

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare, inherited cardiomyopathy characterized by progressive fibro-fatty replacement of the myocardium, ventricular dysfunction, malignant arrhythmias, and a heightened risk of sudden cardiac death. Despite significant morbidity and mortality, current treatment options remain largely palliative, focusing on symptom management and prevention of adverse cardiac events rather than addressing the underlying genetic cause of disease. No approved therapies are currently available that prevent or halt disease progression.

Dr. Song and his team have developed a targeted potentially curative gene therapy for ARVC caused by mutations in the desmoglein-2 (DSG2) gene, which accounts for up to 10% of ARVC cases and frequently results in pathogenic haploinsufficiency. A single systemic administration of this AAV gene therapy prevents or halts disease progression in a preclinical model, offering the potential for one-time lifelong treatment. This is the first treatment that targets the molecular cause of DSG2 mediated ARVC by restoring cardiomyocyte specific expression of DSG2. In a murine model of ARVC, this targeted therapy rescues multiple disease phenotypes including alleviations of ventricular arrythmia, structural abnormalities, and cardiac dysfunction. This offers a potential one-time treatment capable of preventing, halting, and reversing the ARVC disease progression

UIRF Case No. 2026-093

Stage of Development

Inventors have demonstrated in vivo efficacy of this therapy using a murine model of ARVC. On-going work is focused on testing in additional murine models of ARVC.