Phe for Me? The Effects of L-Phe on PKU Carriers and Non-carriers

University of Guelph

Status

Enrolling

Conditions

Autosomal Recessive Disorder (Genetic Carriers of PKU)

Treatments

Dietary Supplement: L-Phenylalanine

Study type

Interventional

Funder types

Other

Identifiers

NCT06119048

23-03-017

Details and patient eligibility

About

This is a clinical intervention 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-11). 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) as well as for genetic testing of the PAH gene. 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 and heart rate will also be measured at baseline.

Following baseline tests, participants will consume a pure L-Phe supplement dosed at 100 mg/kg mixed with 125 mL of water and 125mL of orange juice. Blood pressure and heart rate 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 and heart rate 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.

Enrollment

50 estimated patients

Sex

All

Ages

18+ years old

Volunteers

Accepts Healthy Volunteers

Inclusion criteria

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

Have a child with PKU
Diagnosed with: PKU, severe neurodegenerative conditions affecting cognition (e.g. Alzheimer's, Parkinson's, dementia), melanoma, hypertension, liver disease and/or kidney disease
Diagnosed with hypertension or hypotension
Taking a monoamine oxidase inhibitor anti-depressant
Pregnant or breastfeeding
Orange/citrus allergy or intolerance
Body weight 150 kg or greater
History of fainting during blood sampling