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

NCT07220265 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 36

Last updated 2026-03-11

No results posted yet for this study

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

Conditions

  • Carrier of Phenylketonuria
  • Healthy

Interventions

DIETARY_SUPPLEMENT

Phenylalanine (Phe)

Oral ingestion of phenylalanine (Phe)

DIETARY_SUPPLEMENT

Placebo

Oral ingestion of Placebo (Vitamin C)

Sponsors & Collaborators

  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

    collaborator NIH

  • University of Missouri-Columbia

    lead OTHER

Study Design

Allocation
RANDOMIZED
Purpose
BASIC_SCIENCE
Masking
DOUBLE
Model
CROSSOVER

Eligibility

Min Age
18 Years
Max Age
60 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2025-12-19
Primary Completion
2026-12-31
Completion
2026-12-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07220265 on ClinicalTrials.gov