Ignite Creation Date:
2025-12-24 @ 7:51 PM
Ignite Modification Date:
2025-12-28 @ 10:58 PM
Study NCT ID:
NCT02009904
Status:
COMPLETED
Last Update Posted:
2020-09-24
First Post:
2013-12-09
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Simple Breath Test to Examine Phenylalanine Metabolism
Sponsor:
University of British Columbia
Organization:
Study Overview
Official Title:
Use of a Simple Breath Test to Examine Phenylalanine Metabolism in Children With Phenylketonuria (PKU)
Status:
COMPLETED
Status Verified Date:
2020-09
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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.
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.
Detailed Description:
None
Study Oversight
Has Oversight DMC:
True
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?: