GenSci144

GenSci144 is an oral small molecule therapeutic being developed by Changchun GeneScience Pharmaceutical (GenSci) for the treatment of phenylketonuria (PKU). PKU is an autosomal recessive metabolic disorder caused by mutations in the *PAH* gene, which encodes the enzyme phenylalanine hydroxylase. This deficiency results in elevated levels of phenylalanine (Phe) in the blood, which can lead to severe intellectual disability and neurological symptoms if untreated. GenSci144 is designed to lower blood Phe levels, likely by acting as a pharmacological chaperone or activator to enhance the activity and stability of the residual PAH enzyme. As of 2024, the compound is in Phase 1 clinical development in China to evaluate its safety, tolerability, and pharmacokinetic profile in healthy adult volunteers.