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

Recruiting now · Not applicable · Has a placebo group

Conditions studied: Carrier of Phenylketonuria, Healthy

In brief

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 facts

Study ID

NCT07220265

Run by

University of Missouri-Columbia

People needed

36

Starts

2025-12-19

Expected to finish

2026-12-31

Last updated by the study team

2026-03-11

Who can join

Age: 18 and older, up to 60. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• Age 18-60 years
• For the PKU carrier group: Individuals who are the parent of an individual with PKU or who are otherwise have confirmed PKU carrier status (e.g., a sibling of someone with PKU who has had genetic testing done)
• For the non-carrier group: Individuals who do not have PKU or a family history of PKU

You may not qualify if…

• Obesity as defined by a body mass index (BMI) over 30*
• Taking oral contraceptives on the day of testing session*
• Positive cotinine urine test showing nicotine use
• History of major neurologic condition (e.g., multiple sclerosis, severe closed head injury, Parkinson's disease)) unrelated to PKU and known to adversely impact brain health and function
• Contraindications for safe MRI participation such as (a) pregnancy or plans to become pregnant during period of study enrollment; or (b) metallic objects inside the body (e.g., surgical staples left in the body following surgery, middle ear prosthesis, metal foreign objects lodged inside the eye, heart pacemakers).

Where it is running

• University of Missouri-Columbia — Columbia, Missouri, United States (enrolling)

Full record on ClinicalTrials.gov

Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.