Ignite Creation Date:
2025-12-25 @ 4:32 AM
Ignite Modification Date:
2026-03-02 @ 4:05 PM
Study NCT ID:
NCT01776918
Status:
COMPLETED
Last Update Posted:
2017-07-18
First Post:
2013-01-17
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Energy Requirements in Mitochondrial Disease
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D028361', 'term': 'Mitochondrial Diseases'}, {'id': 'D010661', 'term': 'Phenylketonurias'}], 'ancestors': [{'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'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'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 23}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2012-02'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2017-07', 'completionDateStruct': {'date': '2014-09', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2017-07-13', 'studyFirstSubmitDate': '2013-01-17', 'studyFirstSubmitQcDate': '2013-01-25', 'lastUpdatePostDateStruct': {'date': '2017-07-18', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2013-01-28', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2014-06', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Resting Energy Expenditure', 'timeFrame': '1 hour', 'description': 'Resting Energy Expenditure will be measured by carbon dioxide production and oxygen consumption.'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['POLG1 Mutation', 'Phenylketonuria'], 'conditions': ['Mitochondrial Disease', 'Chronic Metabolic Disorder']}, 'descriptionModule': {'briefSummary': 'Metabolic diseases and mitochondrial disorders are caused by genetic mutation which lead to disruptions in energy producing pathways in our body. Enough energy or calories must be given in the diet to ensure normal growth and development. Currently, energy needs for patients with metabolic and mitochondrial diseases are not measured, but is estimated using a mathematical equation based on healthy children. This may lead to under feeding or overfeeding of calories, and has negative nutritional implications.\n\nThe clinical standard for measuring energy needs is the use of indirect calorimeter.The indirect calorimeter takes individualized measurements for each patient and therefore will enable dietitians and clinicians to provide sufficient calories in the diet to better manage the disease and promote normal growth and development.\n\nWe believe daily energy requirements will vary within metabolic diseases (Phenylketonuria) and mitochondrial disorders (mitochondrial fatty acid oxidation defect, POLG1 mutation etc.).\n\nThe objective of this preliminary study is to measure resting energy expenditure in children living with metabolic and mitochondrial conditions and data obtained will be used to generate future hypothesis and will form a basis for future studies.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '18 Years', 'minimumAge': '1 Year', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Children (1-18y) diagnosed with either phenylketonuria or a mitochondrial disorder', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Children(1-18y) who are diagnosed with either Phenylketonuria (PKU) or a mitochondrial disorder\n\nExclusion Criteria:\n\n* Children, less than 1y old, who are diagnosed with PKU or a mitochondrial disorder, as it is difficult to perform indirect calorimeter on them.\n* Children(1-18y) who are not diagnosed with PKU or a mitochondrial disorder\n* Children(1-18y) who are diagnosed with either PKU or a mitochondrial disorder, but are currently experiencing illness such as fever, cold, vomiting or diarrhea'}, 'identificationModule': {'nctId': 'NCT01776918', 'briefTitle': 'Energy Requirements in Mitochondrial Disease', 'organization': {'class': 'OTHER', 'fullName': 'University of British Columbia'}, 'officialTitle': 'Energy Requirements in Metabolic and Mitochondrial Disease', 'orgStudyIdInfo': {'id': 'H11-02094'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Metabolic Disease- Phenylketonuria'}, {'label': 'Mitochondrial disorder'}]}, 'contactsLocationsModule': {'locations': [{'zip': 'V5Z4H4', 'city': 'Vancouver', 'state': 'British Columbia', 'country': 'Canada', 'facility': 'Child & Family Research Institute', 'geoPoint': {'lat': 49.24966, 'lon': -123.11934}}], 'overallOfficials': [{'name': 'Rajavel Elango, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Child & Family Research Institute/University of British Columbia'}, {'name': 'Sylvia Stockler-Ipsiroglu', 'role': 'STUDY_CHAIR', 'affiliation': 'University of British Columbia/Faculty of Pediatrics'}, {'name': 'Ramona Meni Salvarinova Zivkovic', 'role': 'STUDY_CHAIR', 'affiliation': 'University of Bristish Columbia/Faculty of Pediatrics'}, {'name': 'Howard Parsons', 'role': 'STUDY_CHAIR', 'affiliation': 'University of British Columbia/Faculty of Pediatrics'}]}, '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'}}}}