RecruitingNot ApplicableNCT07220265

Impact of Phenylalanine Elevations on Brain and Cognition in Adult PKU Carriers

The Impact of Phenylalanine Elevations on Metabolic, Cognitive, and Neural Functioning in Adults Heterozygous for Phenylketonuria (PKU)


Sponsor

University of Missouri-Columbia

Enrollment

36 participants

Start Date

Dec 19, 2025

Study Type

INTERVENTIONAL

Conditions

Summary

The goal of this clinical trial is to advance our understanding of the cognitive and neurophysiologic sequelae associated with suboptimal phenylalanine (Phe) metabolism in heterozygous carriers of phenylketonuria (PKU). The main questions it aims to answer are: * Do PKU carriers experience prolonged elevations in brain Phe levels following oral ingestion of dietary Phe? * Do PKU carriers experience disruptions in cognitive functioning following oral ingestion of dietary Phe? * Do PKU carriers experience atypical brain activity following oral ingestion of dietary Phe? Researchers will compare PKU carriers and non-carriers following oral ingestion of dietary Phe and a placebo. Participants will: * Consume Phe or a placebo at two separate visits to our facility * At each visit, they will complete a series of MRIs and cognitive tests throughout the day


Eligibility

Min Age: 18 YearsMax Age: 60 Years

Plain Language Summary

Simplified for easier understanding

This clinical trial is studying Phenylalanine (Phe) and Placebo for people with carrier of phenylketonuria and healthy. The study is currently recruiting participants at 1 location.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Interventions

DIETARY_SUPPLEMENTPhenylalanine (Phe)

Oral ingestion of phenylalanine (Phe)

DIETARY_SUPPLEMENTPlacebo

Oral ingestion of Placebo (Vitamin C)


Locations(1)

University of Missouri-Columbia

Columbia, Missouri, United States

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NCT07220265


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