Ignite Creation Date:
2025-12-24 @ 11:49 PM
Ignite Modification Date:
2026-02-20 @ 10:09 PM
Study NCT ID:
NCT01806051
Status:
TERMINATED
Last Update Posted:
2016-04-20
First Post:
2013-03-04
Is NOT Gene Therapy:
True
Has Adverse Events:
True
Brief Title:
A Pilot Study on Diurnal Variation
Sponsor:
Organization:
Raw JSON
{'hasResults': True, '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'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'C003402', 'term': 'sapropterin'}]}}, 'resultsSection': {'moreInfoModule': {'pointOfContact': {'email': 'lrandolph@chla.usc.edu', 'phone': '323-361-2178', 'title': 'Linda Randolph, M.D.', 'organization': "Children's Hospital Los Angeles"}, 'certainAgreement': {'piSponsorEmployee': False, 'restrictiveAgreement': False}}, 'adverseEventsModule': {'description': 'Participants withdrew before any data were collected.', 'eventGroups': [{'id': 'EG000', 'title': 'PKU Participants (Arm 1)', 'description': "* Subjects will be administered Kuvan once daily.\n* They will undergo several blood draws, including a 24-Hour Blood Assessment (at Study Visit #2 before the commencement of Kuvan), plasma Phe/Tyr draws (at Study Visits #3, 4, and 5), and another 24-Hour Blood Assessment (at Study Visit #6).\n\nKuvan: Only PKU participants (Arm 1) will be administered Kuvan once daily either at a dose of 20 mg/kg/day (if the PKU participant is not currently taking Kuvan) or at the subject's regular dose (if the PKU participant is currently taking Kuvan). They will remain on Kuvan for 4 weeks.", 'otherNumAtRisk': 0, 'otherNumAffected': 0, 'seriousNumAtRisk': 0, 'seriousNumAffected': 0}, {'id': 'EG001', 'title': 'Control Group (Arm 2)', 'description': "* Subjects allocated into this group will be healthy, non-PKU individuals that may be a relative (ex: sibling) of a PKU participant, but they don't have to be a blood relation.\n* These subjects will undergo a 24-Hour Blood Assessment (at Study Visit #2).", 'otherNumAtRisk': 0, 'otherNumAffected': 0, 'seriousNumAtRisk': 0, 'seriousNumAffected': 0}], 'frequencyThreshold': '0'}, 'outcomeMeasuresModule': {'outcomeMeasures': [{'type': 'PRIMARY', 'title': 'Changes in Plasma Phe and Tyrosine Levels', 'denoms': [{'units': 'Participants', 'counts': [{'value': '0', 'groupId': 'OG000'}, {'value': '0', 'groupId': 'OG001'}]}], 'groups': [{'id': 'OG000', 'title': 'PKU Participants (Arm 1)', 'description': "* Subjects will be administered Kuvan once daily.\n* They will undergo several blood draws, including a 24-Hour Blood Assessment (at Study Visit #2 before the commencement of Kuvan), plasma Phe/Tyr draws (at Study Visits #3, 4, and 5), and another 24-Hour Blood Assessment (at Study Visit #6).\n\nKuvan: Only PKU participants (Arm 1) will be administered Kuvan once daily either at a dose of 20 mg/kg/day (if the PKU participant is not currently taking Kuvan) or at the subject's regular dose (if the PKU participant is currently taking Kuvan). They will remain on Kuvan for 4 weeks."}, {'id': 'OG001', 'title': 'Control Group (Arm 2)', 'description': "* Subjects allocated into this group will be healthy, non-PKU individuals that may be a relative (ex: sibling) of a PKU participant, but they don't have to be a blood relation.\n* These subjects will undergo a 24-Hour Blood Assessment (at Study Visit #2)."}], 'timeFrame': 'Baseline and 4 weeks', 'description': 'To evaluate the patterns of change in plasma Phe and tyrosine levels between the Baseline visit and 4 week visit for each arm.', 'reportingStatus': 'POSTED', 'populationDescription': 'Participants withdrew before any data were collected.'}]}, 'participantFlowModule': {'groups': [{'id': 'FG000', 'title': 'All Participants', 'description': 'Participants signed the consent forms and withdrew because they found the study procedures to be too cumbersome.'}], 'periods': [{'title': 'Overall Study', 'milestones': [{'type': 'STARTED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '6'}]}, {'type': 'COMPLETED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '0'}]}, {'type': 'NOT COMPLETED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '6'}]}], 'dropWithdraws': [{'type': 'Withdrawal by Subject', 'reasons': [{'groupId': 'FG000', 'numSubjects': '6'}]}]}], 'recruitmentDetails': 'No data was collected because all of the participants who consented to participate in the study withdrew due to the procedural challenges of remaining in the study (e.g. the PM blood draws were too disruptive).'}, 'baselineCharacteristicsModule': {'denoms': [{'units': 'Participants', 'counts': [{'value': '0', 'groupId': 'BG000'}]}], 'groups': [{'id': 'BG000', 'title': 'All Participants'}], 'measures': [{'title': 'Age, Categorical', 'classes': [{'title': '<=18 years'}, {'title': 'Between 18 and 65 years'}, {'title': '>=65 years'}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'Sex: Female, Male', 'classes': [{'title': 'Female'}, {'title': 'Male'}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}], 'populationDescription': 'Participants withdrew before baseline characteristics were collected.'}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NON_RANDOMIZED', 'maskingInfo': {'masking': 'NONE'}, 'interventionModel': 'PARALLEL'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 6}}, 'statusModule': {'whyStopped': 'Participants found the study procedures to be too cumbersome and no longer wanted to participate', 'overallStatus': 'TERMINATED', 'startDateStruct': {'date': '2013-03'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2016-03', 'completionDateStruct': {'date': '2014-05', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2016-03-21', 'studyFirstSubmitDate': '2013-03-04', 'resultsFirstSubmitDate': '2016-03-21', 'studyFirstSubmitQcDate': '2013-03-05', 'lastUpdatePostDateStruct': {'date': '2016-04-20', 'type': 'ESTIMATED'}, 'resultsFirstSubmitQcDate': '2016-03-21', 'studyFirstPostDateStruct': {'date': '2013-03-07', 'type': 'ESTIMATED'}, 'resultsFirstPostDateStruct': {'date': '2016-04-20', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2014-05', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Changes in Plasma Phe and Tyrosine Levels', 'timeFrame': 'Baseline and 4 weeks', 'description': 'To evaluate the patterns of change in plasma Phe and tyrosine levels between the Baseline visit and 4 week visit for each arm.'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'conditions': ['Phenylketonuria (PKU)']}, 'descriptionModule': {'briefSummary': 'This self-controlled, prospective, pilot study is designed to gather information regarding the diurnal variation (changes that occur each day) in the levels of plasma phenylalanine (Phe) and tyrosine in patients with phenylketonuria (PKU) and in the non-PKU population.', 'detailedDescription': "Phenylketonuria (PKU) is a rare genetic metabolic disease caused by a mutation that codes for an enzyme that converts the essential amino acid phenylalanine (Phe) into tyrosine. An absence or deficiency of this enzyme activity results in a Phe elevation, where higher Phe levels result in neurological damage. Diurnal variations of Phe levels have been observed in PKU patients in a 24-hour period.\n\nAs Kuvan has shown to stabilize Phe levels in PKU patients over time, our hypothesis is that this can be demonstrated within a 24-hour period of observation and indicate therefore that Kuvan may correlate with a lower plasma Phe variability. This study on PKU patients' diurnal variation will also provide important information as to the current method of blood Phe monitoring in a clinical setting to learn more about the optimal way to measure Phe concentration.\n\nThe study will last about 4 weeks (6 study visits) for the PKU participants and about 1 week (2 study visits) for the control group.\n\nParticipants will be required to follow a recommended diet, complete a dietary log, and undergo several blood draws, including a 24-Hour Blood Assessment in which blood will be obtained 8 times throughout the day."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '4 Years', 'healthyVolunteers': True, 'eligibilityCriteria': "Inclusion Criteria:\n\nPKU PARTICIPANTS (ARM 1):\n\n* Subject has a confirmed diagnosis of PKU with hyperphenylalaninemia documented by a fasting Phenylalanine level of at least 360 umol/L (6 mg/dL)\n* Patient is at least 4 years old (there is no upper age limit for this study)\n* Willing and able to provide written authorization or, if under the age of 18 years, provide written assent (if required) and written patient authorization by a parent or legal guardian\n* Willing to undergo study related procedures including commencing Kuvan treatment for patient not currently on treatment; temporary discontinuation of Kuvan for patient on treatment; and completing the 24-Hour Blood Assessment\n* Authorized to provide personal health information\n* Subjects should not be pregnant and willing to use appropriate birth control during the study\n\nCONTROL GROUP (ARM 2):\n\n* Healthy, non-PKU individuals. They will be age-sex matched to the PKU group. They may be a relative (ex: sibling) of a PKU participant, but they don't have to be a blood relation.\n* Individual is at least 4 years old (there is no upper age limit)\n* Willing and able to provide written consent or, if under the age of 18 years, provide written assent and written participant authorization by a parent or legal guardian\n* Authorized to provide personal health information\n\nExclusion Criteria (BOTH ARMS):\n\n* Subjects who do not meet all the inclusion criteria\n* Age \\< 4 years\n* Concomitant medical problems or medications which at the discretion of the principal investigator would put participant at health risk or prevent them from completing study.\n* If female, unwillingness to use birth control during the period of the study drug administration (this doesn't apply to Arm 2)"}, 'identificationModule': {'nctId': 'NCT01806051', 'briefTitle': 'A Pilot Study on Diurnal Variation', 'organization': {'class': 'OTHER', 'fullName': "Children's Hospital Los Angeles"}, 'officialTitle': 'A Pilot Study on the Diurnal Variation in PKU Patients With Kuvan', 'orgStudyIdInfo': {'id': 'CCI-12-00178'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'PKU Participants (Arm 1)', 'description': '* Subjects will be administered Kuvan once daily.\n* They will undergo several blood draws, including a 24-Hour Blood Assessment (at Study Visit #2 before the commencement of Kuvan), plasma Phe/Tyr draws (at Study Visits #3, 4, and 5), and another 24-Hour Blood Assessment (at Study Visit #6).', 'interventionNames': ['Drug: Kuvan']}, {'type': 'NO_INTERVENTION', 'label': 'Control Group (Arm 2)', 'description': "* Subjects allocated into this group will be healthy, non-PKU individuals that may be a relative (ex: sibling) of a PKU participant, but they don't have to be a blood relation.\n* These subjects will undergo a 24-Hour Blood Assessment (at Study Visit #2)."}], 'interventions': [{'name': 'Kuvan', 'type': 'DRUG', 'description': "Only PKU participants (Arm 1) will be administered Kuvan once daily either at a dose of 20 mg/kg/day (if the PKU participant is not currently taking Kuvan) or at the subject's regular dose (if the PKU participant is currently taking Kuvan). They will remain on Kuvan for 4 weeks.", 'armGroupLabels': ['PKU Participants (Arm 1)']}]}, 'contactsLocationsModule': {'locations': [{'zip': '90027', 'city': 'Los Angeles', 'state': 'California', 'country': 'United States', 'facility': "Children's Hospital Los Angeles", 'geoPoint': {'lat': 34.05223, 'lon': -118.24368}}], 'overallOfficials': [{'name': 'Linda M. Randolph, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': "Children's Hospital Los Angeles"}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Dr. Linda Randolph', 'class': 'OTHER'}, 'collaborators': [{'name': 'BioMarin Pharmaceutical', 'class': 'INDUSTRY'}], 'responsibleParty': {'type': 'SPONSOR_INVESTIGATOR', 'investigatorTitle': 'Head, Division of Medical Genetics', 'investigatorFullName': 'Dr. Linda Randolph', 'investigatorAffiliation': "Children's Hospital Los Angeles"}}}}