AAV9-PNPLA2

AAV9-PNPLA2 is an adeno-associated virus serotype 9 (AAV9)-mediated gene supplementation therapy designed to treat arrhythmogenic cardiomyopathy (ACM) caused by mutations in the PNPLA2 gene. PNPLA2 encodes adipose triglyceride lipase (ATGL), a critical enzyme for cardiac lipid homeostasis. The therapy utilizes an AAV9 vector to deliver a functional human PNPLA2 gene, driven by a cardiomyocyte-specific cardiac troponin T (cTnT) promoter. By restoring PNPLA2 expression, the drug aims to clear excessive lipid droplet accumulation, normalize fatty acid metabolism, and improve myocardial structure and function. Preclinical studies in mouse models have demonstrated that early treatment can prevent ACM onset, while late treatment can partially reverse established pathology and extend survival.

Other names

AAV9-mediated PNPLA2 gene supplementationAAV-9-mediated PNPLA2 gene supplementationAAV 9-mediated PNPLA2 gene supplementation