Protein Requirements in Children With Phenylketonuria (PKU)

Phenylketonuria (PKU) is an inherited inborn error of an amino acid phenylalanine (PHE) metabolism affecting 1:15,000 births. It is caused by a decreased activity of an enzyme in the liver called phenylalanine hydroxylase (PAH) which is important to convert PHE into tyrosine, another amino acid. Consequently, PHE accumulates in the blood leading to mental and developmental delays. Nutritional management is the primary choice of treatment that includes providing sufficient protein in the diet and at the same time restricting PHE. However the amount of protein to be given is unknown. A new technique called Indicator Amino Acid Oxidation (IAAO) will be used to determine the protein requirements in children with PKU (5-18y). The study will help treat and manage these children with sufficient protein to ensure proper growth and development. Current dietary recommendations range from 35-65 g/day and is based on factorial calculations.

The investigators hypothesize that the protein requirement in children with PKU will be higher than the current mathematically calculated recommended intake of 35-65 g/day for the 5-18y children.

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Key information

Conditions

Phenylketonuria Amino Acid Metabolism, Inborn Errors Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Phenylketonurias

Age range

5 year–18 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Child and Family Research Institute

Vancouver, British Columbia, V5Z4H4, Canada

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

Children (5-18y) who are diagnosed with Phenylketonuria (PKU), and clinically stable with no acute illness

Exclusion criteria

Children less than 5y of age and who are diagnosed with PKU, as it may be difficult to take breath samples and perform indirect calorimetry in very young children.
Children diagnosed with PKU, but are currently ill, with a fever, cold, vomiting or diarrhea.

Treatment and study plan

protein intake

Dietary Supplement

Oral consumption of eight hourly experimental meals-

4 tracer free experimental meals containing a mixture of free amino acids and calories from protein free flavored liquid, protein free cookies and corn oil
4 isotopically labeled experimental meals.

Primary outcomes

13 Co2 production

Time frame: 8 hours (1 study day)

Urine and breath samples will be collected during the study to measure the rate of oxidation of tracer in the expired breath and flux enrichment in urine.

Sponsors and collaborators

Lead sponsor

University of British Columbia

Other

Collaborators

Rare Disease Foundation, Vancouver, Canada
Saudi Arabian Cultural Bureau, Ottawa

Registry information

Official study title

Application of Stable Isotopes to Determine Protein Requirements in Children With Phenylketonuria (PKU)

Important dates

Study start: 2013
Primary completion: 2015
Study completion: 2015
First posted: Oct 18, 2013
Registry last updated: Sep 24, 2020

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.

Published trials that share one or more normalized conditions with this study.

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