Innovativ terapi for PKU pasienter - preklinikk, tox og klinikk

Offentlig prosjektsammendrag

Phenylketonuria (PKU) is an inborn genetic disease, affecting 1:10 000 children. In PKU, mutations affecting the enzyme phenylalanine hydroxylase (PAH) make the patients unable to process the amino acid phenylalanine - which is commonly found in food, such as meat, fish and dairy. There is no cure for the disease, and it is usually treated with a strict, lifelong diet. All PKU patients will need to follow a strict medical diet, avoiding food containing phenylalanine throughout their entire life and follow medical surveillance. The treatments available today are very burdensome for patients, often effective only for a limited proportion of patient and require maintenance of a medical diet. Pluvia is developing a pharmacological chaperone that holds the potential to be the first disease-modifying therapy for PKU patients, allowing the patients to live lives without dietary restrictions.