Status:
RECRUITING
Impact of Phenylalanine Elevations on Brain and Cognition in Adult PKU Carriers
Lead Sponsor:
University of Missouri-Columbia
Collaborating Sponsors:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Conditions:
Carrier of Phenylketonuria
Healthy
Eligibility:
All Genders
18-60 years
Phase:
NA
Brief 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 phe...
Detailed Description
Limitations inherent in past studies of phenylketonuria (PKU) carriers (e.g., poor genetic characterization of sample resulting in inclusion of homozygous non-PKU relatives, reliance on rudimentary or...
Eligibility Criteria
Inclusion
- 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
Exclusion
- 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).
Key Trial Info
Start Date :
January 15 2026
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
December 31 2026
Estimated Enrollment :
36 Patients enrolled
Trial Details
Trial ID
NCT07220265
Start Date
January 15 2026
End Date
December 31 2026
Last Update
December 23 2025
Active Locations (1)
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1
University of Missouri-Columbia
Columbia, Missouri, United States, 65201