About Phenylketonuria
Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by mutations in the PAH gene encoding phenylalanine hydroxylase. Without treatment, phenylalanine accumulates and causes irreversible intellectual disability. Early detection via newborn screening and lifelong low-phenylalanine diet, now supplemented by sapropterin (Kuvan) for BH4-responsive patients and pegvaliase (Palynziq) for adults, has transformed outcomes. Clinical trials are exploring gene therapy, mRNA therapy, and next-generation enzyme substitution strategies.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Phenylketonuria trials.
BH4 responsiveness testing (sapropterin loading test) is key — around 50% of PKU patients are responsive and can significantly relax dietary restrictions.
Trials for gene and mRNA therapy now target adults with PKU who have established disease — eligibility typically requires baseline phenylalanine levels above 600 µmol/L.
Register with the US PKU Registry or European PKU Registry — researchers actively recruit participants from these databases.
Patient Resources
Find recruiting Phenylketonuria trials
Search 500,000+ studies from ClinicalTrials.gov, filtered for Phenylketonuria. Updated daily.