Recruiting
Who can join AIPeople with classic phenylketonuria (PKU).
What is being studied AIEffect of weekly versus monthly home DBS phenylalanine monitoring on metabolic control.
Study typeTreatment (other)
CountriesPoland
Phenylketonuria
Browse recruiting and upcoming clinical trials for phenylketonuria.
Patient-friendly, AI-assisted summaries based on official ClinicalTrials.gov ↗ records. Last updated: Oct 10, 2026
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ClinicalTrials.gov is the complete and most up-to-date source. Trials may be missing, and trial information may have changed since our last check. Always verify important information in the official registry.
Recruiting
Who can join AIAdults 18–65 with Phenylketonuria.
What is being studied AIMeasures how a single oral dose of repinatrabit is absorbed and cleared in liver/kidney impairment.
Study typeTreatment (drug) · Phase 1
CountriesUnited States
Recruiting
A Study of MZE782 in Adults With PKU
NCT07694440
Who can join AIPeople with phenylketonuria (PKU).
What is being studied AITests safety, tolerability, and effect of MZE782 on blood phenylalanine levels.
Study typeTreatment (drug) · Phase 2
CountriesUnited States
Recruiting
Who can join AIAdults 18–55 with phenylketonuria (PKU) who have blood Phe ≥600 μmol/L and a confirmed PAH gene defect.
What is being studied AITests safety, tolerability, pharmacokinetics/pharmacodynamics and immunogenicity of single or repeated PL54 injections.
Study typeTreatment (drug) · Phase 1
CountriesChina
Recruiting
Who can join AIAdults (18–65) with phenylketonuria (PKU) and uncontrolled blood phenylalanine (>600 μmol/L), either starting or already on Palynziq.
What is being studied AITests whether methotrexate given with Palynziq affects immune response and blood phenylalanine.
Study typeTreatment (drug) · Phase 4
CountriesUnited States
Recruiting
Who can join AIAdults 18–69 with phenylketonuria who meet specific genetic and high-phenylalanine criteria.
What is being studied AITests safety, tolerability, and pharmacology of AG-181 in people with PKU.
Study typeTreatment (drug) · Phase 1
CountriesPoland, United States
Recruiting
Who can join AIAdults (≥18 years) with a clinical diagnosis of phenylketonuria (PKU).
What is being studied AITests oral JNT-517 versus placebo for effects on blood phenylalanine and safety.
Study typeTreatment (drug) · Phase 3
CountriesAustralia, Canada, Czechia +7
Recruiting
GMP Powdered Substitutes in PKU and TYR
NCT06941532
Who can join AIPeople aged 3 years and older with phenylketonuria (PKU) or tyrosinemia who use prescribed protein substitutes.
What is being studied AITests adherence, tolerance, acceptability, and safety of four GMP-based powdered protein substitutes.
Study typeTreatment (diet)
CountriesUnited Kingdom
Recruiting
Who can join AIChildren 9–12 years with phenylketonuria (PKU) who have non-alcoholic fatty liver.
What is being studied AITests whether an 8-week supervised daily walking program affects liver enzymes and BMI.
Study typeTreatment (other)
CountriesEgypt
Recruiting
Who can join AIPeople with phenylketonurias (PKU).
What is being studied AITests safety and efficacy of a single IV dose of NGGT002 gene therapy in adults with PKU.
Study typeTreatment (drug) · Phase 1/2
CountriesChina
Recruiting
Who can join AIPeople aged 4 years and older with phenylketonuria (PKU).
What is being studied AITests long-term safety of JNT-517 and tracks blood phenylalanine and related measures.
Study typeTreatment (drug) · Phase 3
CountriesAustralia, United States
Recruiting
Who can join AIAdolescents (ages 10–17) with phenylketonuria (PKU) who have elevated anxiety or depression symptoms.
What is being studied AITests a 10-week remote skills program and phone-based EMA tools for anxiety, depression, and cognition.
Study typeTreatment (other)
CountriesUnited States
Recruiting
Who can join AIAdults (18–50) with molecularly confirmed classical phenylketonuria (PAH variants or historic Phe ≥1200 μmol/L).
What is being studied AICompares LNAA supplementation with a low-phenylalanine diet for effects on brain dopamine and related outcomes.
Study typeTreatment (diet)
CountriesDenmark
Recruiting
Who can join AIAdults 18–55 with classic phenylketonuria (PKU) from PAH mutations, intolerant/unresponsive or off PKU medicines, with plasma Phe ≥600 μmol/L.
What is being studied AITests a single IV dose of NGGT002 gene therapy for safety and effect on blood phenylalanine.
Study typeTreatment (drug) · Phase 1/2
CountriesUnited States
Recruiting
Who can join AIPeople with phenylketonuria (PKU).
What is being studied AITests long-term effects of sepiapterin on neurocognitive function in children with phenylketonuria.
Study typeTreatment (drug) · Phase 3
CountriesAustralia, France, Ireland +3
Not yet recruiting
Who can join AIPeople with phenylketonuria (PKU) or hyperphenylalaninemia (HPA).
What is being studied AITests acceptability and tolerability of a slow‑release phenylalanine‑free tablet protein substitute.
Study typeTreatment (diet)
CountriesUnited Kingdom
Not yet recruiting
Who can join AIAdults 18–55 with classical phenylketonuria (PKU) caused by PAH mutation who remain inadequately controlled on current therapy.
What is being studied AITests safety and effects of a single IV dose of GS1168 in adults with PKU.
Study typeTreatment (drug) · Early Phase 1
CountriesChina
Recruiting
GenSci144 Tablets Phase I Clinical Trial
NCT07685210
Who can join AIHealthy men and women aged 18–45 who meet screening criteria for a single-dose study of a drug being developed for phenylketonuria.
What is being studied AITests safety, tolerability, pharmacokinetics and pharmacodynamics of single oral doses of GenSci144.
Study typeOther
CountriesChina
Recruiting
Who can join AIAdults 18–60 who are confirmed PKU carriers or healthy non‑carriers.
What is being studied AITests effects of oral phenylalanine versus placebo on brain, blood, and cognitive measures.
Study typeOther
CountriesUnited States
Recruiting
Who can join AIFemales aged 11 and older with PKU or other aminoacidopathies, and healthy adult camp counselors/staff without these disorders.
What is being studied AITests whether Metabolic Camp education and support change metabolic control, diet intake, and pregnancy outcomes.
Study typeOther
CountriesUnited States
Not yet recruiting
PKU Microtablets Case Studies
NCT07671859
Who can join AIPeople with phenylketonuria (PKU) aged 4 years and older who use protein substitutes.
What is being studied AITests adherence, tolerance, acceptability and safety of a new PKU microtablet protein substitute.
Study typeOther
CountriesUnited Kingdom
Recruiting
Who can join AIChildren and teenagers aged 3-17 with early-treated phenylketonuria (PKU), and healthy household members aged 3 or older who may participate as controls (one per participant with PKU).
What is being studied AICompares gut microbiota and faecal metabolites in children with PKU and household controls.
Study typeObservational
CountriesUnited Kingdom
Recruiting
Who can join AIPeople diagnosed with phenylketonuria (PKU) who are followed at Nancy University Hospital and willing to participate.
What is being studied AIStudies eating-disorder prevalence, BMI, and links with diet in people with PKU.
Study typeObservational
CountriesFrance
Recruiting
PheCheck™ Validation Study
NCT07551921
Who can join AIPeople aged 1 year and older with phenylketonuria (classical, mild, or variant) or hyperphenylalaninemia.
What is being studied AICompares PheCheck™ fingerstick Phe measurements with reference dried blood spot (DBS) lab results.
Study typeObservational
CountriesUnited States
Recruiting
Who can join AIAdults with phenylketonuria (PKU) diagnosed by newborn screening who participated in the ECOPHEN study.
What is being studied AICollects saliva DNA and blood metabolomics to link genes, metabolites, and adult PKU features.
Study typeObservational
CountriesFrance
Recruiting
Brain Aging in Phenylketonuria
NCT06969209
Who can join AIAdults with early-treated phenylketonuria (PKU) and healthy adult controls.
What is being studied AIMeasures brain aging with MRI, cognitive tests, and metabolic/cardiometabolic markers over 5 years.
Study typeObservational
CountriesSwitzerland
Recruiting
Who can join AIPeople with phenylketonuria (PKU) who are enrolled in Study 165-501 and are receiving or plan to receive pegvaliase.
What is being studied AICollects blood markers to study immune and inflammatory responses during long-term pegvaliase treatment.
Study typeObservational
CountriesUnited States
Recruiting
Who can join AIParents, doctors, and midwives involved in newborn screening for phenylketonuria (PKU).
What is being studied AIStudies parents' and clinicians' psychological reactions to newborn PKU screening and announcement.
Study typeObservational
CountriesFrance
Recruiting
Who can join AIPeople with phenylketonuria (PKU) who are receiving pegvaliase or plan to start it within 30 days.
What is being studied AICollects long-term safety data on pegvaliase use in people with PKU.
Study typeObservational
CountriesGermany, Italy, United States
Recruiting
Who can join AIPregnant women with phenylketonuria (PKU) who were treated with pegvaliase around conception or during pregnancy.
What is being studied AICollects pregnancy, fetal and infant outcomes after Palynziq (pegvaliase) exposure.
Study typeObservational
CountriesCanada, Germany, Italy +1
Recruiting
Who can join AIPeople with phenylketonuria (PKU) aged 10 years and older, and parents of patients aged 10–18.
What is being studied AICollects blood phenylalanine results and questionnaires on quality of life, self-efficacy, and family burden.
Study typeObservational
CountriesSwitzerland
Recruiting
Who can join AIPeople aged 16 years or older with phenylketonuria (PKU) who have a physician's prescription for Palynziq and are enrolled in the Palynziq REMS program.
What is being studied AICollects diet records, blood and body-composition measures, and quality-of-life data before and after Palynziq.
Study typeObservational
CountriesUnited States
Not yet recruiting
Who can join AIAdults with phenylketonuria (PKU) under follow‑up and their adult close relatives.
What is being studied AIMeasures psychosocial functioning in adults with PKU using the ASEBA questionnaire.
Study typeObservational
CountriesNot posted yet
Enrolling by invitation
Who can join AIAdults (18–55) with phenylketonuria / PAH deficiency who were previously given HMI-102.
What is being studied AILong-term safety and efficacy follow-up after prior HMI-102 administration.
Study typeObservational
CountriesUnited States
Enrolling by invitation
Who can join AIAdults (18+) with confirmed phenylketonuria (PKU).
What is being studied AIPrevalence of overweight/obesity and factors linked to weight in adults with PKU.
Study typeRegistry
CountriesSwitzerland
Enrolling by invitation
Who can join AIPeople with phenylketonuria (PKU) and healthy adult volunteers.
What is being studied AITests accuracy and usability of a home blood phenylalanine self-test (Egoo Phe) versus lab dried blood spots.
Study typeRegistry
CountriesUnited Kingdom
Trials that may include phenylketonuria (2)
ClinicalTrials.gov returned these when we searched for this condition, but we could not confirm from the registry records that they are intended for people with it. Check each trial’s eligibility criteria, and ask the study team if you are unsure.
Recruiting
Who can join AIAdults (≥20 years) in the ICU with non-phenylketonuric hyperphenylalaninemia and blood phenylalanine ≥95 μM.
What is being studied AIWhether a phenylalanine-free enteral diet lowers blood phenylalanine in ICU patients.
Study typeTreatment (diet)
CountriesTaiwan
Recruiting
Who can join AIHealthy adults 18 to 55 years who meet the study's screening and sex/childbearing criteria.
What is being studied AITests drug-drug interactions between repinatrabit and five common oral medicines.
Study typeOther
CountriesAustralia