Validation of a quantitative cell-based relative potency assay for LUXTURNA.

ABSTRACT: Voretigene neparvovec-rzyl (Luxturna) is an AAV2 vector (AAV2-hRPE65v2) that expresses a cDNA encoding the human retinal pigment epithelium-specific 65 kDa protein (RPE65). It has been approved for the treatment of visual deficits associated with biallelic mutations in human RPE65 in the US, European Union (EU), and multiple other countries. To achieve regulatory approval, it was necessary to validate an assay demonstrating its biological activity or potency. The assay measures AAV2-hRPE65v2 transduction in HEK293 cells and the subsequent biological activity of the vector-encoded RPE65 protein in cell lysates. RPE65 converts all-trans-retinol to 11-cis-retinol, which is quantified using liquid chromatography with tandem mass spectrometry (LC-MS/MS). The assay was valid

SUBMITTER: High KA 

PROVIDER: S-EPMC11914788 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature