miniCEP290

**miniCEP290** is a truncated fragment of the human CEP290 protein (amino acids 580-1180), engineered as a minigene for AAV-based gene therapy to treat Leber congenital amaurosis (LCA) caused by CEP290 mutations. It partially restores CEP290 function by localizing to cilia, rescuing cilia length in mutant mouse embryonic fibroblasts, improving photoreceptor survival, morphology, opsin trafficking, and electroretinogram responses in Cep290^rd16^ mice when delivered subretinally via AAV2. Developed as a proof-of-concept for retinal ciliopathies, it delays but does not fully prevent degeneration, with effects declining after 8 weeks post-injection.[1][3]

Other names

miniCEP290^580-1180miniCEP290 580-1180miniCEP-290 580-1180miniCEP 290 580-1180