RECRUITINGINTERVENTIONAL

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

The Impact of Phenylalanine Elevations on Metabolic, Cognitive, and Neural Functioning in Adults Heterozygous for Phenylketonuria (PKU)

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

Who May Be Eligible (Plain English)

Who May Qualify: - 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 Who Should NOT Join This Trial: - 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). Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language

Inclusion Criteria: * 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 Criteria: * 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).

Treatments Being Tested

DIETARY_SUPPLEMENT

Phenylalanine (Phe)

Oral ingestion of phenylalanine (Phe)

DIETARY_SUPPLEMENT

Placebo

Oral ingestion of Placebo (Vitamin C)

Locations (1)

University of Missouri-Columbia

Columbia, Missouri, United States