Actively Recruiting
Impact of Phenylalanine Elevations on Brain and Cognition in Adult PKU Carriers
Led by University of Missouri-Columbia · Updated on 2026-03-11
36
Participants Needed
1
Research Sites
53 weeks
Total Duration
On this page
Sponsors
U
University of Missouri-Columbia
Lead Sponsor
E
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Collaborating Sponsor
AI-Summary
What this Trial Is About
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
Official Title
Impact of Phenylalanine Elevations on Brain and Cognition in Adult PKU Carriers
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Age 18-60 years
- For the PKU carrier group: Parent of an individual with PKU or confirmed PKU carrier (e.g., sibling with genetic testing)
- For the non-carrier group: No PKU and no family history of PKU
You will not qualify if you...
- Obesity with body mass index (BMI) over 30
- Taking oral contraceptives on the day of testing
- Positive cotinine urine test indicating nicotine use
- History of major neurological conditions affecting brain health (e.g., multiple sclerosis, severe head injury, Parkinson's disease)
- Contraindications for MRI including pregnancy, plans for pregnancy, or metal objects inside the body (e.g., surgical staples, middle ear prosthesis, metal in eye, pacemaker)
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
University of Missouri-Columbia
Columbia, Missouri, United States, 65201
Actively Recruiting
Research Team
S
Shawn Christ
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
DOUBLE
Allocation
RANDOMIZED
Model
CROSSOVER
Primary Purpose
BASIC_SCIENCE
Number of Arms
2
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