miniABCA4

miniABCA4 is an AAV-based gene therapy developed by IVERIC bio, Inc. It is designed to treat Stargardt disease and other ABCA4-associated retinopathies. The drug functions as an ABCA4 stimulant, aiming to express a functional wild-type ABCA4 protein. The ABCA4 protein is a flippase crucial for transporting retinal-phosphatidylethanolamine conjugates, thereby preventing the accumulation of toxic bisretinoids in the retina. Mutations in the ABCA4 gene lead to the buildup of these toxic by-products, such as lipofuscin and A2E, which cause retinal cell death and degeneration. miniABCA4, as a minigene, encodes a smaller, functional version of the ABCA4 protein to restore this critical function. It is currently in preclinical development for Stargardt Disease 4.

Other names

MiniABCA4 proteinMiniABCA-4 proteinMiniABCA 4 protein