Simple Breath Test to Examine Phenylalanine Metabolism
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|ClinicalTrials.gov Identifier: NCT02009904|
Recruitment Status : Completed
First Posted : December 12, 2013
Last Update Posted : November 17, 2016
Phenylketonuria(PKU)is a rare condition caused by the body's inability to properly breakdown an amino acid called phenylalanine(PHE), due to a missing enzyme, phenylalanine hydroxylase(PAH). When the enzyme is missing and/or not functioning properly, it increases the level of PHE in the body. High levels of PHE can cause severe brain damage or nerve damage unless the children are on a strict low PHE diet. A low PHE diet restricts the intake of protein rich foods and can pose a significant burden to both the patient and the family.
Investigators at the University of British Columbia and British Columbia Children's Hospital will examine the phenylalanine metabolism in children with PKU using a simple breath test.
Patients (5-18y) receiving standard clinical care at the BC Children's Hospital's Biochemical Diseases Clinic will be enrolled.The study will be conducted twice on each patient. Baseline measurements will be performed at the beginning of each study for each patient.The Physician in charge will then prescribe the standard dose of sapropterin dihydrochloride (Kuvan®) (20mg/kg/d) or otherwise as deemed appropriate by the physician-in-charge. The test will be repeated a week (minimum) after the beginning of treatment with the prescribed dose.
The investigators propose that children who are responsive to sapropterin dihydrochloride (Kuvan®) will have increased 13CO2 in breath after treatment, and those who do not respond will have no change in the 13CO2 in the breath before and after treatment.
As a comparison to the experimental group, age and gender matched healthy controls will also be studied. The test in healthy controls will be performed once without any intervention, and is only used as a comparative value.
|Condition or disease|
|Study Type :||Observational|
|Actual Enrollment :||20 participants|
|Observational Model:||Case Control|
|Official Title:||Use of a Simple Breath Test to Examine Phenylalanine Metabolism in Children With Phenylketonuria (PKU)|
|Study Start Date :||January 2013|
|Actual Primary Completion Date :||September 2016|
|Actual Study Completion Date :||September 2016|
Phenylketonuria (PKU); Healthy Controls
Children with PKU (5-18y); Age and Gender matched healthy subjects for comparison
- 13C (carbon dioxide) production [ Time Frame: 2 hours (1 study day) ]Breath samples are collected to measure 13C (carbon dioxide) production. Rate of carbon dioxide produced is measured at 60 minutes after the start of the study using an indirect calorimeter.
Biospecimen Retention: Samples Without DNA
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 ClinicalTrials.gov identifier (NCT number): NCT02009904
|Canada, British Columbia|
|Child & Family Research Institute|
|Vancouver, British Columbia, Canada, V5Z 4H4|
|Principal Investigator:||Rajavel Elango, Ph.D||University of British Columbia|