AAV-RDH12

AAV-RDH12 is an investigational gene therapy developed by MeiraGTx for the treatment of retinal dystrophies associated with mutations in the RDH12 gene. The therapy utilizes an adeno-associated virus serotype 5 (AAV5) vector to deliver a functional copy of the human RDH12 gene directly to the retina. RDH12 encodes retinol dehydrogenase 12, an enzyme primarily expressed in photoreceptors that plays a vital role in the visual cycle by reducing all-trans-retinal to all-trans-retinol. Mutations in RDH12 lead to a loss of this enzymatic activity, resulting in severe retinal degeneration that often manifests clinically as Leber congenital amaurosis (LCA) or early-onset severe retinal dystrophy (EOSRD). By restoring RDH12 function, the therapy aims to prevent the accumulation of toxic retinoids and preserve vision. The program has received Orphan Drug Designation from the FDA and EMA, as well as Rare Pediatric Disease Designation from the FDA, and is currently in the IND-enabling phase.

Other names

MeiraGTx RDH12 gene therapyAAV5-hRDH12AAV-5-hRDH12AAV 5-hRDH12