Protein Requirements in Children With Phenylketonuria (PKU)

NCT01965691 | Completed DMC

• 1 other identifier: H13-00220
• Study Type: interventional
• Target: 4
• Locations: 1 country
• Sites: 1

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.

Conditions

Phenylketonuria

Keywords

Phenylketonuria; PKU; Phenylalanine metabolism; Protein requirements; Indicator Amino acid Oxidation; Stable isotopes

Outcome Measures

Primary Outcomes (1)

• 13 Co2 production

  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.

  8 hours (1 study day)

Study Arms (1)

Protein intake

EXPERIMENTAL

Protein intake- Dietary supplement

Dietary Supplement: Protein intake

Interventions

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.

Protein intake

Eligibility Criteria

• Age: 5 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

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

You may not qualify if:

• 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.

Sponsors & Collaborators

• University of British Columbia: lead
• Rare Disease Foundation, Vancouver, Canada: collaborator
• Saudi Arabian Cultural Bureau, Ottawa: collaborator

Study Sites (1)

Child and Family Research Institute

Vancouver, British Columbia, V5Z4H4, Canada

Location

Related Publications (1)

• Turki A, Ueda K, Cheng B, Giezen A, Salvarinova R, Stockler-Ipsiroglu S, Elango R. The Indicator Amino Acid Oxidation Method with the Use of l-[1-13C]Leucine Suggests a Higher than Currently Recommended Protein Requirement in Children with Phenylketonuria. J Nutr. 2017 Feb;147(2):211-217. doi: 10.3945/jn.116.240218. Epub 2017 Jan 4.

  PMID: 28053173 DERIVED

MeSH Terms

Conditions

Phenylketonurias

Condition Hierarchy (Ancestors)

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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Rajavel Elango, PhD

  Child and Family Research Institute, University of British Columbia

  PRINCIPAL INVESTIGATOR

• Sylvia Stockler-Ipsiroglu, MD

  University of British Columbia

  STUDY CHAIR

• Keiko Ueda, MPH, RD

  Provincial Health Services Authority British Columbia

  STUDY CHAIR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: SUPPORTIVE CARE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principle Investigator

Study Record Dates

• First Submitted: October 16, 2013
• First Posted: October 18, 2013
• Study Start: October 1, 2013
• Primary Completion: August 1, 2015
• Study Completion: December 1, 2015
• Last Updated: September 24, 2020

Record last verified: 2020-09

Locations

CA (1)