Phenylketonuria (PKU) and Hyperphenylalaninemia

Clinical trial pipeline · Data from ClinicalTrials.gov

See which Phenylketonuria (PKU) and Hyperphenylalaninemia trials you may qualify for

Total trials

Actively recruiting

Phase 3 trials

Completed

Trial phase breakdown

Trial status

Actively recruiting — 1 trial

RecruitingNot Applicable

NCT04896281

Phenylalanine-free Diet for Patients With Secondary Hyperphenylalaninemia in ICU

Hyperphenylalaninemia is not only present in patients with congenital phenylketonuria. In adults with critical illness, hyperphenylalaninemia is noted in some p…

Taiwan100 participantsStarted 2021-07-30

Treatment: Phenylalanine-free milk

All recent trials (25 shown)

Not Yet RecruitingNot Applicable

NCT07551921

PheCheck™ Validation Study

The goal of this observational study is to evaluate the performance of the PheCheck™ test for the rapid detection of phenylalanine (Phe) from a fingerstick samp…

Location not specified60 participantsStarted 2026-05-20

Treatment: PheCheck, Dried Blood Spot Cards.

Not Yet RecruitingPhase 4

NCT07477691

Immune Modulation During Palynziq® Treatment in Adults (IMPALA)

Study 165-401 is a Phase 4, open-label study designed to examine the concomitant use of methotrexate (MTX) to suppress immune responses to Palynziq and improve…

United States12 participantsStarted 2026-03-31

Treatment: Pegvaliase, Methotrexate

Phenylketonuria (PKU) and Hyperphenylalaninemia

Trial phase breakdown

Trial status

Actively recruiting — 1 trial

Phenylalanine-free Diet for Patients With Secondary Hyperphenylalaninemia in ICU

All recent trials (25 shown)

PheCheck™ Validation Study

Immune Modulation During Palynziq® Treatment in Adults (IMPALA)

Trial phase breakdown

Trial status

Actively recruiting — 1 trial

Phenylalanine-free Diet for Patients With Secondary Hyperphenylalaninemia in ICU

All recent trials (25 shown)

PheCheck™ Validation Study

Immune Modulation During Palynziq® Treatment in Adults (IMPALA)

Early Check: Expanded Screening in Newborns

PKU Low Calorie Drink Study

Acceptability and Tolerance of a Ready-to-use Protein Substitute in Tablet Form for the Dietary Management of Phenylketo…

A Study of PTC923 (CNSA-001) in Primary Tetrahydrobiopterin (BH4) Deficient Participants With Hyperphenylalaninemia

Gene Therapy Clinical Study in Adult PKU

PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry

Observational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phen…

Response to Phenylketonuria to Tetrahydrobiopterin (BH4)

Study of a National Cohort of Adult Patients With Phenylketonuria

Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency

Evaluating the Efficacy of PKU Synergy in Patients Expressing Phenylketonuria or Hyperphenylalaninemia

Retrospective Observational Safety Effectiveness With Kuvan in hpA

Antioxidant Signature in Adult Patients With Phenylketonuria

Neurocognitive Outcomes in Mild Hyperphenylalaninemia (MHP)MHP Study

Phenylketonuria and Hyperphenylalaninemia Nutrition Study

Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia

Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy

Bone Mineral Density in Adults With Hyperphenylalaninemia