Pluvia is currently focusing on developing pharmacological chaperones as potential treatment of PKU, the most common inborn error of metabolism.
Patients affected by PKU have mutations in the gene coding for the enzyme phenylalanine hydroxylase (PAH) that is responsible for the conversion of phenylalanine (Phe) into tyrosine (Tyr). Loss of function of the PAH enzyme results in the potential neurotoxic accumulation of Phe in these patients.
Testing for PKU is part of a screening program throughout the developed world, where each newborn is tested throught a neonatal heel pick and immediate care is provided to families that will learn how to handle the child disease. Positive diagnosis will require life-long dietary management to avoid severe debilitating consequences.
There are approximately 50.000 PKU patients in the developed world today. Left untreated, PKU leads to varying degrees of intellectual and neurological disabilities.
Our vision is to develop a small-molecule chaperone to prevent the PAH mutation-associated misfolding and thereby restoring the native enzymatic activity of the patient’s own dysfunctional PAH.
