ClinicalTrials.gov
ClinicalTrials.gov Menu
Trial record 48 of 80 for:    "phenylketonuria"

Simple Breath Test to Examine Phenylalanine Metabolism

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.
ClinicalTrials.gov Identifier: NCT02009904
Recruitment Status : Completed
First Posted : December 12, 2013
Last Update Posted : November 17, 2016
Sponsor:
Collaborator:
Rare Disease Foundation
Information provided by (Responsible Party):
University of British Columbia

Brief 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.


Condition or disease
Phenylketonuria (PKU)

Study Type : Observational
Actual Enrollment : 20 participants
Observational Model: Case Control
Time Perspective: Prospective
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


Group/Cohort
Phenylketonuria (PKU); Healthy Controls
Children with PKU (5-18y); Age and Gender matched healthy subjects for comparison



Primary Outcome Measures :
  1. 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
Breath samples from both groups (children with PKU and healthy controls)


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   5 Years to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Children with PKU will be enrolled from the Biochemical Diseases clinic at the British Columbia Children's Hospital.

Healthy controls will be enrolled from the community and will undergo screening for age and gender match.

Criteria

Inclusion Criteria:

Study Subjects:

  1. Children (4-18y)diagnosed with PKU
  2. Parent(s) or guardian(s) willing and able to provide informed signed consent.
  3. Parent(s) or guardian(s) willing and able to comply with all study procedures

Healthy controls:

  1. Healthy Children (4-18y) with no health condition
  2. Willing to go through an initial screening for age and gender match
  3. Parents or guardians willing and able to provide informed signed consent.
  4. Parents or guardians willing and able to comply with study procedures

Exclusion Criteria:

Study Subjects:

  1. Children < 4y of age diagnosed with PKU, as it may be challenging to collect breath samples and perform indirect calorimeter in very young children
  2. Children (4-18y)who are diagnosed with PKU, but are currently ill, with a fever, cold, vomiting or diarrhea

Healthy controls:

  1. Healthy Children < 4y of age , as it may be challenging to collect breath samples and perform indirect calorimeter in very young children.
  2. Healthy Children (4-18y), 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 ClinicalTrials.gov identifier (NCT number): NCT02009904


Locations
Canada, British Columbia
Child & Family Research Institute
Vancouver, British Columbia, Canada, V5Z 4H4
Sponsors and Collaborators
University of British Columbia
Rare Disease Foundation
Investigators
Principal Investigator: Rajavel Elango, Ph.D University of British Columbia

Responsible Party: University of British Columbia
ClinicalTrials.gov Identifier: NCT02009904     History of Changes
Other Study ID Numbers: H12-01421
First Posted: December 12, 2013    Key Record Dates
Last Update Posted: November 17, 2016
Last Verified: November 2016

Keywords provided by University of British Columbia:
PKU
Phenylketonuria
Phenylalanine
Children
Stable isotopes
Sapropterin dihydrochloride responsiveness

Additional relevant MeSH terms:
Phenylketonurias
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