PKU Carriers Trial (Pilot Study): Impact on Cognition, Mental Health, Blood Pressure and Metabolism
- Conditions
- Autosomal Recessive Disorder (Genetic Carriers of PKU)
- Interventions
- Dietary Supplement: L-Phenylalanine
- Registration Number
- NCT05958784
- Lead Sponsor
- University of Guelph
- Brief Summary
This is a clinical intervention pilot/feasibility study of PKU carriers (cases) and non-carriers (controls). Upon completing the informed consent process, participants will complete baseline measures of chronic mental health prior to the intervention (PHQ-9, GAD-7, BIS-Brief). Participants will attend the Human Nutraceutical Research Unit (HNRU) at the University of Guelph, fasted, and first undergo baseline measures of cognition and acute mental health (mood) and provide samples or saliva, urine and dried blood spots to evaluate phenylalanine (Phe), tyrosine (Tyr) and their metabolites (PAH pathway functioning). Participants will also complete a brief questionnaire which will include age, sex, ethnicity, income, weight and height (measured using a stadiometer and calibrated weigh scale), and confirmation that participants arrived to the lab fasted (i.e. have only had water to drink and no other foods/beverages prior to analyses). Blood pressure will also be measured at baseline. Following baseline tests, participants will consume a pure L-Phe supplement dosed at 100 mg/kg mixed into 250 mL water with 1 tsp white sugar. Blood pressure will be repeated at 1-hour post-L-Phe consumption. Two-hours postprandial, participants will repeat the cognitive tests and acute mental health (mood) assessment, blood pressure measurement and provide follow-up saliva, urine and dried blood spot samples. Participants will also be asked to report any side effects they experienced with the L-Phe consumption.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 7
- Known carrier or non-carrier of PKU
- At least 18 years of age
- Comfortable fasting the morning of the study (no food or drink other than water)
- Diagnosed with: PKU, severe neurodegenerative conditions affecting cognition (e.g. Alzheimer's, Parkinson's, dementia), melanoma, hypertension, liver disease and/or kidney disease
- Taking a Monoamine Oxidase Inhibitor anti-depressant
- Pregnant or breastfeeding
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SINGLE_GROUP
- Arm && Interventions
Group Intervention Description Genetic Carriers and Non-Carriers of PKU L-Phenylalanine -
- Primary Outcome Measures
Name Time Method Stop Signal Reaction Time (Response Inhibition) Change from baseline to 2-hours post L-Phe supplementation
- Secondary Outcome Measures
Name Time Method Stop Signal Delay Change from baseline to 2-hours post L-Phe supplementation Stop Signal Task Outcome
Mood Change from baseline to 2-hours post L-Phe supplementation Profile of Mood States (POMS) Outcome
Individual Coefficient of Variance (Variability in Reaction Times) Change from baseline to 2-hours post L-Phe supplementation Stop Signal Task Outcome
Phenylalanine Levels Change from baseline to 2-hours post L-Phe supplementation Blood Pressure Change from baseline to 1-hour and 2-hours post L-Phe supplementation Systolic and Diastolic
Working Memory Change from baseline to 2-hours post L-Phe supplementation N-Back Test Outcome
Tyrosine Levels Change from baseline to 2-hours post L-Phe supplementation Tyrosine Metabolites: e.g. L-DOPA, dopamine, norepinephrine, epinephrine, p-hydroxyphenylpyruvate, homogentisic acid, fumarate, others Change from baseline to 2-hours post L-Phe supplementation Phenylalanine Metabolites: e.g.phenylethylamine, tyramine, phenylpyruvate, others Change from baseline to 2-hours post L-Phe supplementation
Trial Locations
- Locations (1)
University of Guelph
🇨🇦Guelph, Ontario, Canada