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Phenylketonuria clinical trials recruiting in the U.S.

14 studies for Phenylketonuria are recruiting participants at sites across the United States.

In phenylketonuria (PKU), your body can't process phenylalanine, an amino acid in most foods. Read about genetics, screening, and special diets.

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Recently updated studies

Immune Modulation During Palynziq® Treatment in Adults (IMPALA)

RecruitingPhase 4
Ages 18 to 65 · All sexes · Updated Nov 10, 2026 · NCT07477691

A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AG-181 in Subjects With Phenylketonuria

RecruitingPhase 1
Ages 18 to 69 · All sexes · Updated Oct 28, 2026 · NCT07241234

A Study of Sepiapterin in Participants With Phenylketonuria (PKU)

RecruitingPhase 3
Up to age 9 · All sexes · Updated Oct 23, 2026 · NCT06302348

A Study of MZE782 in Adults With PKU

RecruitingPhase 2
Ages 18 to 75 · All sexes · Updated Oct 23, 2026 · NCT07694440

A Study of JNT-517 in Participants With Phenylketonuria (PKU)

RecruitingPhase 3
Ages 4 and older · All sexes · Updated Oct 21, 2026 · NCT06971731

PheCheck™ Validation Study

RecruitingObservational study
Ages 1 and older · All sexes · Updated Aug 25, 2026 · NCT07551921

AAV Gene Therapy Clinical Study in Adult Classic PKU (PHEdom)

RecruitingPhase 1/2
Ages 18 to 55 · All sexes · Updated Aug 18, 2026 · NCT06332807

A Long-Term Study of JNT-517 in Participants With Phenylketonuria

RecruitingPhase 3
Ages 4 and older · All sexes · Updated May 1, 2026 · NCT06628128

A Long-term, Post-marketing Safety Study of Palynziq in Patients With PKU (PALace)

RecruitingObservational study
All ages · All sexes · Updated Mar 25, 2026 · NCT05813678

A Long Term, Post-marketing Study of Immune Response in Patients Receiving Palynziq Treatment for PKU (PALisade)

RecruitingObservational study
All ages · All sexes · Updated Mar 24, 2026 · NCT06305234

Nutritional Impacts of Palynziq on Patients With Phenylketonuria (PKU)

RecruitingObservational study
Ages 16 and older · All sexes · Updated Jan 14, 2026 · NCT04404530

Development of Novel Psychological Assessment Tools and Anxiety Intervention for Phenylketonuria

Recruiting
Ages 10 to 17 · All sexes · Updated Dec 23, 2025 · NCT06560736

From ClinicalTrials.gov, data retrieved Nov 15, 2026. Each study sets its own eligibility; the study team decides who can join.