Impact of Phenylalanine Elevations on Brain and Cognition in Adult PKU Carriers
Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age18-60
SponsorUniversity of Missouri-Columbia
About this trial
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
Eligibility criteria
Qualifiers
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
Disqualifiers
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
Trial design
Treatments tested in this trial
- Phenylalanine (Phe)
- Placebo
Treatment groups
36 Participants
are divided into 2 treatment groupsSponsors and collaborators
University of Missouri-Columbia
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Collaborator
Source ClinicalTrials.gov