FAH gene therapy

FAH gene therapy refers to a class of investigational gene therapies designed to treat hereditary tyrosinemia type 1 (HT1), a rare autosomal recessive inborn error of metabolism caused by a deficiency in the fumarylacetoacetate hydrolase (FAH) enzyme. Without functional FAH, toxic metabolites such as succinylacetone accumulate, leading to severe liver dysfunction, cirrhosis, and hepatocellular carcinoma. FAH gene therapies aim to deliver a functional copy of the human FAH gene directly to hepatocytes, restoring enzyme expression and enabling corrected hepatocytes to selectively repopulate the damaged liver. Various delivery modalities are under development, including lentiviral vectors (such as Castle Creek Biosciences' LV-FAH, originally discovered at the Mayo Clinic and developed in collaboration with Children's Hospital of Minnesota) and non-viral hydrodynamic delivery systems (such as HydroGene Therapeutics' biliary hydrodynamic injection platform).

Other names

fumarylacetoacetate hydrolase gene therapy