AAV-hLDLR

AAV-hLDLR refers to a class of investigational gene therapy constructs that utilize adeno-associated virus (AAV) vectors to deliver a functional human low-density lipoprotein receptor (hLDLR) gene. The most advanced application is liver-directed therapy for Homozygous Familial Hypercholesterolemia (HoFH), a rare genetic disorder where the absence of functional LDLR leads to dangerously high levels of LDL cholesterol. A specific candidate, RGX-501 (AAV8.TBG.hLDLR), uses an AAV8 vector and a liver-specific thyroxine-binding globulin (TBG) promoter to restore LDLR expression in hepatocytes, thereby facilitating the clearance of circulating LDL. Beyond metabolic disease, AAV-hLDLR is being explored in preclinical research for neurodegenerative conditions such as Alzheimer's disease. In these contexts, AAV-mediated overexpression of hLDLR in the brain has been shown to reduce Apolipoprotein E (ApoE) levels and mitigate tau-related pathology and neurodegeneration.

Brand names

AAV8-hLDLRAAV-8-hLDLRAAV 8-hLDLR

Other names

AAV-mediated human LDLR gene therapyAAV8-mediated human LDLR gene therapyAAV-8-mediated human LDLR gene therapyAAV 8-mediated human LDLR gene therapy