Ignite Creation Date:
2025-12-24 @ 7:51 PM
Ignite Modification Date:
2026-01-24 @ 9:50 PM
Study NCT ID:
NCT02009904
Status:
COMPLETED
Last Update Posted:
2020-09-24
First Post:
2013-12-09
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Simple Breath Test to Examine Phenylalanine Metabolism
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D010661', 'term': 'Phenylketonurias'}], 'ancestors': [{'id': 'D020739', 'term': 'Brain Diseases, Metabolic, Inborn'}, {'id': 'D001928', 'term': 'Brain Diseases, Metabolic'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D000592', 'term': 'Amino Acid Metabolism, Inborn Errors'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITHOUT_DNA', 'description': 'Breath samples from both groups (children with PKU and healthy controls)'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'CASE_CONTROL'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 20}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2013-01'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2020-09', 'completionDateStruct': {'date': '2016-09', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2020-09-22', 'studyFirstSubmitDate': '2013-12-09', 'studyFirstSubmitQcDate': '2013-12-11', 'lastUpdatePostDateStruct': {'date': '2020-09-24', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2013-12-12', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2016-09', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': '13C (carbon dioxide) production', 'timeFrame': '2 hours (1 study day)', 'description': '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.'}]}, 'oversightModule': {'oversightHasDmc': True}, 'conditionsModule': {'keywords': ['PKU', 'Phenylketonuria', 'Phenylalanine', 'Children', 'Stable isotopes', 'Sapropterin dihydrochloride responsiveness'], 'conditions': ['Phenylketonuria (PKU)']}, 'descriptionModule': {'briefSummary': "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.\n\nInvestigators 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.\n\nPatients (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.\n\nThe 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.\n\nAs 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."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '18 Years', 'minimumAge': '5 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': "Children with PKU will be enrolled from the Biochemical Diseases clinic at the British Columbia Children's Hospital.\n\nHealthy controls will be enrolled from the community and will undergo screening for age and gender match.", 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\nStudy Subjects:\n\n1. Children (4-18y)diagnosed with PKU\n2. Parent(s) or guardian(s) willing and able to provide informed signed consent.\n3. Parent(s) or guardian(s) willing and able to comply with all study procedures\n\nHealthy controls:\n\n1. Healthy Children (4-18y) with no health condition\n2. Willing to go through an initial screening for age and gender match\n3. Parents or guardians willing and able to provide informed signed consent.\n4. Parents or guardians willing and able to comply with study procedures\n\nExclusion Criteria:\n\nStudy Subjects:\n\n1. Children \\< 4y of age diagnosed with PKU, as it may be challenging to collect breath samples and perform indirect calorimeter in very young children\n2. Children (4-18y)who are diagnosed with PKU, but are currently ill, with a fever, cold, vomiting or diarrhea\n\nHealthy controls:\n\n1. Healthy Children \\< 4y of age , as it may be challenging to collect breath samples and perform indirect calorimeter in very young children.\n2. Healthy Children (4-18y), but are currently ill, with a fever, cold, vomiting or diarrhea.'}, 'identificationModule': {'nctId': 'NCT02009904', 'briefTitle': 'Simple Breath Test to Examine Phenylalanine Metabolism', 'organization': {'class': 'OTHER', 'fullName': 'University of British Columbia'}, 'officialTitle': 'Use of a Simple Breath Test to Examine Phenylalanine Metabolism in Children With Phenylketonuria (PKU)', 'orgStudyIdInfo': {'id': 'H12-01421'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Phenylketonuria (PKU); Healthy Controls', 'description': 'Children with PKU (5-18y); Age and Gender matched healthy subjects for comparison'}]}, 'contactsLocationsModule': {'locations': [{'zip': 'V5Z 4H4', 'city': 'Vancouver', 'state': 'British Columbia', 'country': 'Canada', 'facility': 'Child & Family Research Institute', 'geoPoint': {'lat': 49.24966, 'lon': -123.11934}}], 'overallOfficials': [{'name': 'Rajavel Elango, Ph.D', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'University of British Columbia'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University of British Columbia', 'class': 'OTHER'}, 'collaborators': [{'name': 'Rare Disease Foundation, Vancouver, Canada', 'class': 'OTHER'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Principle Investigator', 'investigatorFullName': 'Rajavel Elango, PhD', 'investigatorAffiliation': 'University of British Columbia'}}}}