RecruitingPhase 3NCT06302348
Metabolic
Phenylketonuria
Also known as PKU, PAH deficiency, phenylalanine hydroxylase deficiency, hyperphenylalaninemia
Phenylketonuria (PKU) is an inborn error of metabolism caused by mutations in the PAH gene encoding phenylalanine hydroxylase, the enzyme that converts phenylalanine to tyrosine. Without treatment, elevated blood phenylalanine causes progre
31
studies recruiting now
as of 7 Sept 2026
195
studies registered in total
as of 7 Sept 2026
6
countries with a recruiting site
as of 7 Sept 2026
10 Jul 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingPhase 1NCT07241234
A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AG-181 in Subjects With Phenylketonuria
RecruitingNCT07551921
PheCheck™ Validation Study
RecruitingPhase 2NCT07694440
A Study of MZE782 in Adults With PKU
RecruitingPhase 1 / Phase 2NCT06332807
AAV Gene Therapy Clinical Study in Adult Classic PKU (PHEdom)
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 31 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Phenylketonuria
Phenylketonuria (PKU) is an inborn error of metabolism caused by mutations in the PAH gene encoding phenylalanine hydroxylase, the enzyme that converts phenylalanine to tyrosine. Without treatment, elevated blood phenylalanine causes progressive intellectual disability and neurological damage. PKU is detected by newborn screening, and lifelong management includes a low-phenylalanine diet; sapropterin (Kuvan) and pegvaliase (Palynziq) are approved pharmacological therapies.
Common clinical features
Intellectual disability (if untreated)SeizuresBehavioural difficultiesMusty or mouse-like odour (from phenylacetate)Fair skin and hairEczema-like rashMood disorders in adultsCognitive decline without dietary adherence
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Phenylketonuria. Not eligibility rules; those are set by each study.
- Sapropterin (BH4) responsiveness testing is required before enrollment in BH4-related trials — responders and non-responders are separate cohorts
- Blood phenylalanine levels at baseline and throughout diet history are key eligibility and outcome measures
- Pegvaliase (Palynziq) trials typically require documented failure or intolerance of dietary management
- Maternal PKU trials specifically target women of childbearing age — pregnancy planning is a distinct eligibility pathway
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).