Ignite Creation Date:
2025-12-25 @ 12:46 AM
Ignite Modification Date:
2026-02-23 @ 6:24 AM
Study NCT ID:
NCT03721367
Status:
COMPLETED
Last Update Posted:
2023-02-10
First Post:
2018-06-20
Is NOT Gene Therapy:
True
Has Adverse Events:
True
Brief Title:
Chronic Liver Disease in Urea Cycle Disorders
Sponsor:
Organization:
Raw JSON
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Normal liverstiffness is \\< 1.35 m/s and abnormal liver stiffness is \\>1.35 m/s', 'unitOfMeasure': 'Participants', 'reportingStatus': 'POSTED', 'populationDescription': 'The data for this outcome was reliable for only 27 participants.'}, {'type': 'PRIMARY', 'title': 'Grey Scale Ultrasound Findings', 'denoms': [{'units': 'Participants', 'counts': [{'value': '28', 'groupId': 'OG000'}]}], 'groups': [{'id': 'OG000', 'title': 'Urea Cycle Disorders', 'description': 'Diagnostic Ultrasound: All individuals will undergo a blood draw for measurement of biomarkers of liver disease and an ultrasound with shear-wave elastography.'}], 'classes': [{'categories': [{'title': 'Normal hepatic parenchyma on grey scale ultrasound', 'measurements': [{'value': '15', 'groupId': 'OG000'}]}, {'title': 'Abnormal hepatic parenchyma on grey scale ultrasound', 'measurements': [{'value': '13', 'groupId': 'OG000'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'timeFrame': 'Baseline, once', 'description': 'Grey scale ultrasound findings', 'unitOfMeasure': 'Participants', 'reportingStatus': 'POSTED'}, {'type': 'SECONDARY', 'title': 'Fibrotest', 'denoms': [{'units': 'Participants', 'counts': [{'value': '28', 'groupId': 'OG000'}]}], 'groups': [{'id': 'OG000', 'title': 'Urea Cycle Disorders', 'description': 'Diagnostic Ultrasound: All individuals will undergo a blood draw for measurement of biomarkers of liver disease and an ultrasound with shear-wave elastography.'}], 'classes': [{'categories': [{'title': 'F0', 'measurements': [{'value': '19', 'groupId': 'OG000'}]}, {'title': '>F0', 'measurements': [{'value': '9', 'groupId': 'OG000'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'timeFrame': 'Baseline, once', 'description': 'Fibrotest is a blood test that is a surrogate measure for hepatic fibrosis. F0 is normal. \\>F0 predicts at least minimal fibrosis.', 'unitOfMeasure': 'Participants', 'reportingStatus': 'POSTED'}]}, 'participantFlowModule': {'groups': [{'id': 'FG000', 'title': 'Urea Cycle Disorders', 'description': 'Diagnostic Ultrasound: All individuals will undergo a blood draw for measurement of biomarkers of liver disease and an ultrasound with shear-wave elastography.'}], 'periods': [{'title': 'Overall Study', 'milestones': [{'type': 'STARTED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '28'}]}, {'type': 'COMPLETED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '28'}]}, {'type': 'NOT COMPLETED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '0'}]}]}]}, 'baselineCharacteristicsModule': {'denoms': [{'units': 'Participants', 'counts': [{'value': '28', 'groupId': 'BG000'}]}], 'groups': [{'id': 'BG000', 'title': 'Urea Cycle Disorders', 'description': 'Diagnostic Ultrasound: All individuals will undergo a blood draw for measurement of biomarkers of liver disease and an ultrasound with shear-wave elastography.'}], 'measures': [{'title': 'Age, Continuous', 'classes': [{'categories': [{'measurements': [{'value': '15', 'groupId': 'BG000', 'lowerLimit': '5', 'upperLimit': '52'}]}]}], 'paramType': 'MEAN', 'unitOfMeasure': 'years', 'dispersionType': 'FULL_RANGE'}, {'title': 'Sex: Female, Male', 'classes': [{'categories': [{'title': 'Female', 'measurements': [{'value': '16', 'groupId': 'BG000'}]}, {'title': 'Male', 'measurements': [{'value': '12', 'groupId': 'BG000'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'Race/Ethnicity, Customized', 'classes': [{'title': 'White', 'categories': [{'measurements': [{'value': '13', 'groupId': 'BG000'}]}]}, {'title': 'Native American', 'categories': [{'measurements': [{'value': '2', 'groupId': 'BG000'}]}]}, {'title': 'Hispanic', 'categories': [{'measurements': [{'value': '9', 'groupId': 'BG000'}]}]}, {'title': 'African-American', 'categories': [{'measurements': [{'value': '3', 'groupId': 'BG000'}]}]}, {'title': 'Asian', 'categories': [{'measurements': [{'value': '1', 'groupId': 'BG000'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'Region of Enrollment', 'classes': [{'title': 'United States', 'categories': [{'measurements': [{'value': '28', 'groupId': 'BG000'}]}]}], 'paramType': 'NUMBER', 'unitOfMeasure': 'participants'}, {'title': 'UCD diagnosis', 'classes': [{'categories': [{'title': 'OTC Deficiency (Male)', 'measurements': [{'value': '3', 'groupId': 'BG000'}]}, {'title': 'OTC Deficiency (Female)', 'measurements': [{'value': '7', 'groupId': 'BG000'}]}, {'title': 'ASS1 Deficiency', 'measurements': [{'value': '4', 'groupId': 'BG000'}]}, {'title': 'ASL Deficiency', 'measurements': [{'value': '8', 'groupId': 'BG000'}]}, {'title': 'ARG1 Deficiency', 'measurements': [{'value': '6', 'groupId': 'BG000'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'BMI', 'classes': [{'categories': [{'title': 'Underweight', 'measurements': [{'value': '1', 'groupId': 'BG000'}]}, {'title': 'Healthy', 'measurements': [{'value': '12', 'groupId': 'BG000'}]}, {'title': 'Overweight', 'measurements': [{'value': '5', 'groupId': 'BG000'}]}, {'title': 'Obese', 'measurements': [{'value': '10', 'groupId': 'BG000'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'History of Hyperammonemia', 'classes': [{'categories': [{'measurements': [{'value': '16', 'groupId': 'BG000'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}]}}, 'documentSection': {'largeDocumentModule': {'largeDocs': [{'date': '2018-02-20', 'size': 7325011, 'label': 'Study Protocol', 'hasIcf': False, 'hasSap': False, 'filename': 'Prot_000.pdf', 'typeAbbrev': 'Prot', 'uploadDate': '2022-05-12T12:09', 'hasProtocol': True}, {'date': '2022-05-11', 'size': 45943, 'label': 'Statistical Analysis Plan', 'hasIcf': False, 'hasSap': True, 'filename': 'SAP_001.pdf', 'typeAbbrev': 'SAP', 'uploadDate': '2023-02-08T18:08', 'hasProtocol': False}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITHOUT_DNA', 'description': 'Blood'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'OTHER'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 28}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2017-11-29', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2023-02', 'completionDateStruct': {'date': '2020-06-01', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2023-02-08', 'studyFirstSubmitDate': '2018-06-20', 'resultsFirstSubmitDate': '2022-05-12', 'studyFirstSubmitQcDate': '2018-10-24', 'lastUpdatePostDateStruct': {'date': '2023-02-10', 'type': 'ACTUAL'}, 'resultsFirstSubmitQcDate': '2023-02-08', 'studyFirstPostDateStruct': {'date': '2018-10-26', 'type': 'ACTUAL'}, 'resultsFirstPostDateStruct': {'date': '2023-02-10', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2020-06-01', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Liver Stiffness as Measured by Shear Wave Elastography', 'timeFrame': 'One measurement made on the day of study visit', 'description': 'Shear wave elastography in m/s is a measure of liver stiffness, a surrogate measure for hepatic fibrosis. Normal liverstiffness is \\< 1.35 m/s and abnormal liver stiffness is \\>1.35 m/s'}, {'measure': 'Grey Scale Ultrasound Findings', 'timeFrame': 'Baseline, once', 'description': 'Grey scale ultrasound findings'}], 'secondaryOutcomes': [{'measure': 'Fibrotest', 'timeFrame': 'Baseline, once', 'description': 'Fibrotest is a blood test that is a surrogate measure for hepatic fibrosis. F0 is normal. \\>F0 predicts at least minimal fibrosis.'}]}, 'oversightModule': {'oversightHasDmc': True, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Urea Cycle Disorder']}, 'referencesModule': {'references': [{'pmid': '33846069', 'type': 'DERIVED', 'citation': 'Nagamani SCS, Ali S, Izem R, Schady D, Masand P, Shneider BL, Leung DH, Burrage LC. Biomarkers for liver disease in urea cycle disorders. Mol Genet Metab. 2021 Jun;133(2):148-156. doi: 10.1016/j.ymgme.2021.04.001. Epub 2021 Apr 8.'}, {'pmid': '31990680', 'type': 'DERIVED', 'citation': 'Burrage LC, Madan S, Li X, Ali S, Mohammad M, Stroup BM, Jiang MM, Cela R, Bertin T, Jin Z, Dai J, Guffey D, Finegold M; Members of the Urea Cycle Disorders Consortium (UCDC); Nagamani S, Minard CG, Marini J, Masand P, Schady D, Shneider BL, Leung DH, Bali D, Lee B. Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency. JCI Insight. 2020 Feb 27;5(4):e132342. doi: 10.1172/jci.insight.132342.'}]}, 'descriptionModule': {'briefSummary': "This is a pilot, cross-sectional study to assess liver stiffness and markers of hepatic injury, function, and fibrosis in patients with urea cycle disorders. This study will be conducted at 3 UCDC sites: Baylor College of Medicine in Houston, Texas, University of California San Francisco (UCSF), San Francisco, California and Seattle Children's Hospital, Seattle,Washington", 'detailedDescription': 'Urea cycle disorders (UCDs) are among the most common inborn errors of liver metabolism.With early diagnosis and improved treatments, the survival of individuals with UCDs has improved, and this improved survival has led to unmasking of some long-term complications such as hepatic dysfunction and progressive fibrosis in a subset of patients. Hepatic complications in UCDs are quite variable and dependent upon the specific metabolic defect. Currently, there are no guidelines for monitoring hepatic complications or extent of liver disease in UCDs.\n\nThe purpose of this study is: 1) To determine whether liver stiffness is higher in individuals with ASS1D, ASLD, and ARG1D as compared to females with OTCD, and to assess liver stiffness in other UCDs (citrin deficiency, NAGSD, CPS1D, and males with OTCD), 2) To test whether markers of hepatocellular injury and function and novel serum biomarker panels for hepatic fibrosis provide evidence of chronic liver disease in individuals with ASS1D, ASLD, and ARG1D as compared to OTCD and to assess these sample markers of hepatocellular injury and function and novel serum biomarker panels for hepatic fibrosis in other UCDs (citrin deficiency, NAGSD, CPS1D, and males with OTCD).'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '60 Years', 'minimumAge': '5 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Individuals with urea cycle disorders', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n1. Age \\> 5 years and \\< 60 years\n2. Weight ≥ 11 kg\n3. Males or females with a diagnosis of OTCD based on molecular or enzymatic testing. Males or females with a diagnosis of CPS1D, citrin deficiency, NAGSD, ASS1D, ASLD or ARG1D based on biochemical OR molecular, OR enzymatic testing\n\nExclusion Criteria:\n\n1. History of hyperammonemia (blood ammonia greater than 100 micromoles/L) documented in the medical record or reported by the patient in the 30 days preceding enrollment visit\n2. History of Liver transplantation\n3. Current pregnancy\n4. Confirmed diagnosis of chronic viral hepatitis, autoimmune liver disease, or alcohol liver disease'}, 'identificationModule': {'nctId': 'NCT03721367', 'briefTitle': 'Chronic Liver Disease in Urea Cycle Disorders', 'organization': {'class': 'OTHER', 'fullName': 'Baylor College of Medicine'}, 'officialTitle': 'Prospective Cross-Sectional Non-invasive Assessment of Chronic Liver Disease in Urea Cycle Disorders', 'orgStudyIdInfo': {'id': 'H-40988'}, 'secondaryIdInfos': [{'id': 'UCDC 5118', 'type': 'OTHER', 'domain': 'Urea Cycle Disorders Consortium'}]}, 'armsInterventionsModule': {'armGroups': [{'label': 'Urea Cycle Disorders', 'interventionNames': ['Other: Diagnostic Ultrasound']}], 'interventions': [{'name': 'Diagnostic Ultrasound', 'type': 'OTHER', 'description': 'All individuals will undergo a blood draw for measurement of biomarkers of liver disease and an ultrasound with shear-wave elastography.', 'armGroupLabels': ['Urea Cycle Disorders']}]}, 'contactsLocationsModule': {'locations': [{'zip': '77030', 'city': 'Houston', 'state': 'Texas', 'country': 'United States', 'facility': 'Baylor College of Medicine', 'geoPoint': {'lat': 29.76328, 'lon': -95.36327}}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Baylor College of Medicine', 'class': 'OTHER'}, 'collaborators': [{'name': "Seattle Children's Hospital", 'class': 'OTHER'}, {'name': 'University of California, San Francisco', 'class': 'OTHER'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Assistant Professor', 'investigatorFullName': 'Lindsay Burrage', 'investigatorAffiliation': 'Baylor College of Medicine'}}}}