Clinical trial NCT01965691: Protein Requirements in Children With Phenylketonuria (PKU)
Official title: Application of Stable Isotopes to Determine Protein Requirements in Children With Phenylketonuria (PKU)
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Phenylketonuria
Keywords: Phenylketonuria
PKU
Phenylalanine metabolism
Protein requirements
Indicator Amino acid Oxidation
Stable isotopes
Lead sponsor: University of British Columbia
Sponsor class: OTHER
Collaborators: name: Rare Disease Foundation, Vancouver, Canada
name: Saudi Arabian Cultural Bureau, Ottawa
First posted: 2013-10-18
Enrollment: 4
Sex: ALL
Minimum age (years): 5
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: SUPPORTIVE_CARE

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.


Eligibility criteria: 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.

Primary outcomes:
measure: 13 Co2 production
timeFrame: 8 hours (1 study day)
Secondary outcomes:
Other outcomes:
Locations:
city: Vancouver
country: Canada
facility: Child and Family Research Institute
state: British Columbia
Study officials:
affiliation: Child and Family Research Institute, University of British Columbia
name: Rajavel Elango, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: University of British Columbia
name: Sylvia Stockler-Ipsiroglu, MD
role: STUDY_CHAIR
affiliation: Provincial Health Services Authority
name: Keiko Ueda, MPH, RD
role: STUDY_CHAIR
References:
citation: 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.