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

Part of paid clinical trials in Columbia, Missouri.

Sponsor
University of Missouri-Columbia
Study ID
NCT07220265
Status
Recruiting
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Conditions

  • Carrier of Phenylketonuria
  • Healthy

Eligibility Criteria

Sex
ALL
Age
18 Years - 60 Years
Healthy Volunteers
Accepted

Interventions

  • Phenylalanine (Phe) — DIETARY_SUPPLEMENT
    Oral ingestion of phenylalanine (Phe)
  • Placebo — DIETARY_SUPPLEMENT
    Oral ingestion of Placebo (Vitamin C)

Study Details

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

Key Dates

Start date
Dec 19, 2025
Status verified
Mar 2026
Primary completion
Dec 31, 2026
Completion
Dec 31, 2026

Study Design

Enrollment
36 participants (estimated)
Allocation
RANDOMIZED
Intervention model
CROSSOVER
Primary purpose
BASIC_SCIENCE

Arms

  • Other: PKU Carriers
    Heterozygous carriers of a pathogenic variant of the PAH gene associated with phenylketonuria (PKU)
  • Other: Non-Carriers
    Individuals who do not carry a pathogenic variant of the PAH gene

Primary Outcome Measure

Blood Phenylalanine Levels [ Time Frame: 3 timepoints: baseline (pre-load), 2 hours and 4 hours after starting oral administration of Phe or placebo ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
University of Missouri-ColumbiaColumbiaMissouri65201
Shawn Christ
[email protected]
573-884-8140

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By research site
University of Missouri-Columbia· Columbia, MO

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