Protein Requirements in Children With Phenylketonuria (PKU)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01965691
Recruitment Status : Completed
First Posted : October 18, 2013
Last Update Posted : May 25, 2016
Rare Disease Foundation
Royal Embassy of Saudi Arabia-Cultural Bureau Ottawa
Information provided by (Responsible Party):
University of British Columbia

Brief Summary:

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.

Condition or disease Intervention/treatment Phase
Phenylketonuria Dietary Supplement: Protein intake Not Applicable

Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 4 participants
Intervention Model: Single Group Assignment
Masking: Single (Participant)
Primary Purpose: Supportive Care
Official Title: Application of Stable Isotopes to Determine Protein Requirements in Children With Phenylketonuria (PKU)
Study Start Date : October 2013
Actual Primary Completion Date : August 2015
Actual Study Completion Date : December 2015

Arm Intervention/treatment
Experimental: Protein intake
Protein intake- Dietary supplement
Dietary Supplement: Protein intake

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 Outcome Measures :
  1. 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.

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Ages Eligible for Study:   5 Years to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01965691

Canada, British Columbia
Child and Family Research Institute
Vancouver, British Columbia, Canada, V5Z4H4
Sponsors and Collaborators
University of British Columbia
Rare Disease Foundation
Royal Embassy of Saudi Arabia-Cultural Bureau Ottawa
Principal Investigator: Rajavel Elango, PhD Child and Family Research Institute, University of British Columbia
Study Chair: Sylvia Stockler-Ipsiroglu, MD University of British Columbia
Study Chair: Keiko Ueda, MPH, RD Provincial Health Services Authority

Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: University of British Columbia Identifier: NCT01965691     History of Changes
Other Study ID Numbers: H13-00220
First Posted: October 18, 2013    Key Record Dates
Last Update Posted: May 25, 2016
Last Verified: May 2016

Keywords provided by University of British Columbia:
Phenylalanine metabolism
Protein requirements
Indicator Amino acid Oxidation
Stable isotopes

Additional relevant MeSH terms:
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases