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Completed

NCT Number: NCT05958784

PKU Carriers Trial (Pilot Study): Impact on Cognition, Mental Health, Blood Pressure and Metabolism

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.

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Key information

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

University of Guelph

Guelph, Ontario, N1G 2W1, Canada

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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)

Exclusion criteria

  • 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

Treatment and study plan

L-Phenylalanine

Dietary Supplement

100 mg/kg

Primary outcomes

  1. Stop Signal Reaction Time (Response Inhibition)

    Time frame: Change from baseline to 2-hours post L-Phe supplementation

Secondary outcomes

  1. Working Memory

    Time frame: Change from baseline to 2-hours post L-Phe supplementation

    N-Back Test Outcome

  2. Stop Signal Delay

    Time frame: Change from baseline to 2-hours post L-Phe supplementation

    Stop Signal Task Outcome

  3. Individual Coefficient of Variance (Variability in Reaction Times)

    Time frame: Change from baseline to 2-hours post L-Phe supplementation

    Stop Signal Task Outcome

  4. Phenylalanine Levels

    Time frame: Change from baseline to 2-hours post L-Phe supplementation

  5. Tyrosine Levels

    Time frame: Change from baseline to 2-hours post L-Phe supplementation

  6. Phenylalanine Metabolites: e.g.phenylethylamine, tyramine, phenylpyruvate, others

    Time frame: Change from baseline to 2-hours post L-Phe supplementation

  7. Tyrosine Metabolites: e.g. L-DOPA, dopamine, norepinephrine, epinephrine, p-hydroxyphenylpyruvate, homogentisic acid, fumarate, others

    Time frame: Change from baseline to 2-hours post L-Phe supplementation

  8. Mood

    Time frame: Change from baseline to 2-hours post L-Phe supplementation

    Profile of Mood States (POMS) Outcome

  9. Blood Pressure

    Time frame: Change from baseline to 1-hour and 2-hours post L-Phe supplementation

    Systolic and Diastolic

Other outcomes

  1. Chronic Anxiety

    Time frame: Baseline

    GAD-7 Outcome

  2. Chronic Depression

    Time frame: Baseline

    PHQ-9 Outcome

  3. Impulsivity

    Time frame: Baseline

    BIS-Brief Outcome

  4. Trial-by-trial analysis

    Time frame: Change from baseline to 2-hours post L-Phe supplementation

    To be conducted if there are significant findings from the four main stop signal task outcomes

Sponsors and collaborators

Lead sponsor

University of Guelph

Other

Collaborators

  • McMaster University

Registry information

Official study title

A Pilot Study for the PKU Carriers Trial: Evaluating the Impact of PKU Carrier Status on Cognition, Mental Health, Blood Pressure and L-phenylalanine Metabolism

Important dates

Study start
2023
Primary completion
2023
Study completion
2023
First posted
Jul 25, 2023
Registry last updated
Dec 6, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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