Autosomal Recessive Disorder (Genetic Carriers of PKU)NCT05958784
PKU Carriers Trial (Pilot Study): Impact on Cognition, Mental Health, Blood Pressure and Metabolism
A study testing L-Phenylalanine in people with Autosomal Recessive Disorder (Genetic Carriers of PKU), run by University of Guelph at 1 site in Canada.
Trial 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). Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Autosomal Recessive Disorder (Genetic Carriers of PKU)
- What is being tested?
- L-Phenylalanine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 7 participants
- Where
- 1 siteCanada
- Study dates
- 1 Jul 2023to 1 Dec 2023
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- 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)
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
About this study
Official 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
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.
- Being tested
- L-Phenylalanine
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
L-PhenylalanineDietary supplement
100 mg/kg
| Study group | Role | What they receive |
|---|---|---|
| Genetic Carriers and Non-Carriers of PKU | Experimental | Not described Receives: Dietary Supplement: L-Phenylalanine |
What is being measured
The primary outcome is the main question the study is designed to answer.
Stop Signal Reaction Time (Response Inhibition)
Measured: Change from baseline to 2-hours post L-Phe supplementation
Secondary outcomes (9)
Working Memory
N-Back Test Outcome
Measured: Change from baseline to 2-hours post L-Phe supplementation
Stop Signal Delay
Stop Signal Task Outcome
Measured: Change from baseline to 2-hours post L-Phe supplementation
Individual Coefficient of Variance (Variability in Reaction Times)
Stop Signal Task Outcome
Measured: Change from baseline to 2-hours post L-Phe supplementation
Phenylalanine Levels
Measured: Change from baseline to 2-hours post L-Phe supplementation
Tyrosine Levels
Measured: Change from baseline to 2-hours post L-Phe supplementation
Phenylalanine Metabolites: e.g.phenylethylamine, tyramine, phenylpyruvate, others
Measured: 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
Measured: Change from baseline to 2-hours post L-Phe supplementation
Mood
Profile of Mood States (POMS) Outcome
Measured: Change from baseline to 2-hours post L-Phe supplementation
Blood Pressure
Systolic and Diastolic
Measured: Change from baseline to 1-hour and 2-hours post L-Phe supplementation
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Jul 2023
- Study start1 Jul 2023
- Primary completion1 Dec 2023
- Study completion1 Dec 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Autosomal Recessive Disorder (Genetic Carriers of PKU)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 7 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Guelph
- Sponsor type
- University, hospital or other
- Collaborators
- McMaster University
- Responsible party
- Principal investigator, Justine Keathley, University of Guelph
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05958784
- Sponsor's protocol ID
- REB23-03-017
- Status last verified
- Dec 2024
- First submitted
- 5 Jul 2023
- Last updated
- 6 Dec 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Dec 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official 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
- ClinicalTrials.gov ID
- NCT05958784
- Acronym / sponsor ID
- REB23-03-017
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 7 participants (actual)
- Lead sponsor
- University of GuelphUniversity, hospital or other
- Collaborators
- McMaster University
- Study start
- 1 Jul 2023 (actual)
- Primary completion
- 1 Dec 2023 (actual)
- Study completion
- 1 Dec 2023 (actual)
- First posted
- 25 Jul 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Genetic Carriers and Non-Carriers of PKU | Experimental | Dietary Supplement: L-Phenylalanine |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (3 listed)
- 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)
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| L-Phenylalanine100 mg/kg | Dietary supplement | Genetic Carriers and Non-Carriers of PKU |
Primary outcome
Stop Signal Reaction Time (Response Inhibition)
Time frame: Change from baseline to 2-hours post L-Phe supplementation
9 secondary outcomes
Working Memory
Time frame: Change from baseline to 2-hours post L-Phe supplementation
Stop Signal Delay
Time frame: Change from baseline to 2-hours post L-Phe supplementation
Individual Coefficient of Variance (Variability in Reaction Times)
Time frame: Change from baseline to 2-hours post L-Phe supplementation
Phenylalanine Levels
Time frame: Change from baseline to 2-hours post L-Phe supplementation
Tyrosine Levels
Time frame: Change from baseline to 2-hours post L-Phe supplementation
Phenylalanine Metabolites: e.g.phenylethylamine, tyramine, phenylpyruvate, others
Time frame: 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
Time frame: Change from baseline to 2-hours post L-Phe supplementation
Mood
Time frame: Change from baseline to 2-hours post L-Phe supplementation
Blood Pressure
Time frame: Change from baseline to 1-hour and 2-hours post L-Phe supplementation
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Dec 2024.
- Individual participant dataSharing planned: No
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing L-Phenylalanine in people with Autosomal Recessive Disorder (Genetic Carriers of PKU), run by University of Guelph at 1 site in Canada.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 6 Dec 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Stop Signal Reaction Time (Response Inhibition) (time frame: Change from baseline to 2-hours post L-Phe supplementation). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Dec 2024; AzTrials last refreshed its copy on 7 Nov 2026.