MedTrace Logo

Simple Breath Test to Examine Phenylalanine Metabolism

NCT02009904 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 20

Last updated 2020-09-24

No results posted yet for this study

Summary

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.

Conditions

  • Phenylketonuria (PKU)

Sponsors & Collaborators

  • Rare Disease Foundation, Vancouver, Canada

    collaborator OTHER

  • University of British Columbia

    lead OTHER

Principal Investigators

  • Rajavel Elango, Ph.D · University of British Columbia

Eligibility

Min Age
5 Years
Max Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2013-01-31
Primary Completion
2016-09-30
Completion
2016-09-30

Countries

  • Canada

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02009904 on ClinicalTrials.gov