Ignite Creation Date:
2025-12-24 @ 9:58 PM
Ignite Modification Date:
2026-03-29 @ 3:15 PM
Study NCT ID:
NCT00472732
Status:
COMPLETED
Last Update Posted:
2015-06-24
First Post:
2007-05-11
Is Gene Therapy:
True
Has Adverse Events:
True
Brief Title:
Neurologic Injuries in Adults With Urea Cycle Disorders
Sponsor:
Organization:
Raw JSON
{'hasResults': True, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D020739', 'term': 'Brain Diseases, Metabolic, Inborn'}, {'id': 'D056806', 'term': 'Urea Cycle Disorders, Inborn'}, {'id': 'D020163', 'term': 'Ornithine Carbamoyltransferase Deficiency Disease'}], 'ancestors': [{'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': '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'}, {'id': 'D000592', 'term': 'Amino Acid Metabolism, Inborn Errors'}, {'id': 'D040181', 'term': 'Genetic Diseases, X-Linked'}]}}, 'resultsSection': {'moreInfoModule': {'pointOfContact': {'email': 'agropman@childrensnational.org', 'phone': '202-476-2120', 'title': 'Andrea Gropman, M.D.', 'organization': "Children's Research Institute"}, 'certainAgreement': {'piSponsorEmployee': False, 'restrictiveAgreement': False}, 'limitationsAndCaveats': {'description': 'This study examined the neurobiological differences between OTCD patients and controls. This was, however, not a clinical trial, since participants received no form of drug therapy or treatment as part of this study.'}}, 'adverseEventsModule': {'timeFrame': 'Entire study', 'eventGroups': [{'id': 'EG000', 'title': 'OTCD Patients', 'description': 'Female carriers of ornithine transcarbamylase deficiency (OTCD) or males with late onset presentation of OTCD', 'otherNumAtRisk': 24, 'otherNumAffected': 0, 'seriousNumAtRisk': 24, 'seriousNumAffected': 0}, {'id': 'EG001', 'title': 'Healthy Controls', 'description': 'Healthy males or females without known medical or metabolic disorder (control group)', 'otherNumAtRisk': 22, 'otherNumAffected': 0, 'seriousNumAtRisk': 22, 'seriousNumAffected': 0}], 'frequencyThreshold': '0'}, 'outcomeMeasuresModule': {'outcomeMeasures': [{'type': 'PRIMARY', 'title': 'Concentration of Glutamine and Myoinositol by MRS', 'denoms': [{'units': 'Participants', 'counts': [{'value': '24', 'groupId': 'OG000'}, {'value': '22', 'groupId': 'OG001'}]}], 'groups': [{'id': 'OG000', 'title': 'OTCD Patients', 'description': 'Female carriers of ornithine transcarbamylase deficiency (OTCD) or males with late onset presentation of OTCD'}, {'id': 'OG001', 'title': 'Healthy Controls', 'description': 'Healthy males or females without known medical or metabolic disorder (control group)'}], 'classes': [{'title': 'Glutamine in PCGM', 'categories': [{'measurements': [{'value': '4.97', 'spread': '2.08', 'groupId': 'OG000'}, {'value': '3.66', 'spread': '1.36', 'groupId': 'OG001'}]}]}, {'title': 'Myoinositol in PCGM', 'categories': [{'measurements': [{'value': '3.78', 'spread': '0.82', 'groupId': 'OG000'}, {'value': '4.50', 'spread': '0.43', 'groupId': 'OG001'}]}]}, {'title': 'Glutamine in PWM', 'categories': [{'measurements': [{'value': '2.13', 'spread': '1.22', 'groupId': 'OG000'}, {'value': '1.09', 'spread': '0.75', 'groupId': 'OG001'}]}]}, {'title': 'Myoinositol in PWM', 'categories': [{'measurements': [{'value': '2.27', 'spread': '0.77', 'groupId': 'OG000'}, {'value': '2.86', 'spread': '0.38', 'groupId': 'OG001'}]}]}], 'analyses': [{'pValue': '0.003', 'groupIds': ['OG000', 'OG001'], 'ciNumSides': 'TWO_SIDED', 'pValueComment': 'The Bonferroni-corrected a priori p-value was 0.007 (a priori alpha=0.05/number of tests=7).', 'groupDescription': 'The null hypothesis predicted that the concentration of myoinositol in posterior cingulate gray matter will be the same in OTCD patients as in controls.', 'statisticalMethod': 't-test, 2 sided', 'nonInferiorityType': 'SUPERIORITY_OR_OTHER', 'testedNonInferiority': False}, {'pValue': '<0.001', 'groupIds': ['OG000', 'OG001'], 'ciNumSides': 'TWO_SIDED', 'pValueComment': 'The Bonferroni-corrected a priori p-value was 0.007 (a priori alpha=0.05/number of tests=7).', 'groupDescription': 'The null hypothesis predicted that the concentration of myoinositol in parietal white matter will be the same in OTCD patients as in controls.', 'statisticalMethod': 't-test, 2 sided', 'nonInferiorityType': 'SUPERIORITY_OR_OTHER', 'testedNonInferiority': False}, {'pValue': '0.001', 'groupIds': ['OG000', 'OG001'], 'ciNumSides': 'TWO_SIDED', 'pValueComment': 'The Bonferroni-corrected a priori p-value was 0.007 (a priori alpha=0.05/number of tests=7).', 'groupDescription': 'The null hypothesis predicted that the concentration of glutamine in posterior cingulate gray matter would be the same for OTCD patients as for controls.', 'statisticalMethod': 't-test, 2 sided', 'nonInferiorityType': 'SUPERIORITY_OR_OTHER', 'testedNonInferiority': False}, {'pValue': '<0.001', 'groupIds': ['OG000', 'OG001'], 'ciNumSides': 'TWO_SIDED', 'pValueComment': 'The Bonferroni-corrected a priori p-value was 0.007 (a priori alpha=0.05/number of tests=7).', 'groupDescription': 'The null hypothesis predicted that the concentration of glutamine in parietal white matter would be the same for OTCD patients as for controls.', 'statisticalMethod': 't-test, 2 sided', 'nonInferiorityType': 'SUPERIORITY_OR_OTHER', 'testedNonInferiority': False}], 'paramType': 'MEAN', 'timeFrame': 'one time measurement at study baseline', 'description': "Concentration based on area under curve on 1H MRS and quantitated by LCModel. A metabolite's tissue concentration is related to the integrated amplitude of the MRS signal it produces. Integrated amplitude is the area under the MRS signal curve. While MRS signals are usually acquired in the time domain as free induction decays or echoes, they are usually viewed and analyzed in the frequency domain. The frequency domain representation is derived from the acquired time domain data by the Fourier Transform. The protocol we use selects 257 averages. This means, 257 free induction decays. The machine summates the data at each time point to generate one value for the area under the curve. Therefore, we don't have the measurement at each time point.\n\nFurthermore, we measured voxels in two different brain areas containing different kinds of brain matter: one voxel was located in posterior cingulate gray matter (PCGM) and the other in parietal white matter (PWM).", 'unitOfMeasure': 'mM', 'dispersionType': 'Standard Deviation', 'reportingStatus': 'POSTED'}, {'type': 'PRIMARY', 'title': 'Functional MRI Activation in N-Back Tast', 'denoms': [{'units': 'Participants', 'counts': [{'value': '19', 'groupId': 'OG000'}, {'value': '21', 'groupId': 'OG001'}]}], 'groups': [{'id': 'OG000', 'title': 'OTCD Patients', 'description': 'Female carriers of ornithine transcarbamylase deficiency (OTCD) or males with late onset presentation of OTCD'}, {'id': 'OG001', 'title': 'Healthy Controls', 'description': 'Healthy males or females without known medical or metabolic disorder (control group)'}], 'classes': [{'title': 'Dorsolateral prefrontal cortex (BA 10)', 'categories': [{'measurements': [{'value': '0.21', 'groupId': 'OG000'}, {'value': '0.04', 'groupId': 'OG001'}]}]}, {'title': 'Dorsolateral prefrontal cortex (BA 46)', 'categories': [{'measurements': [{'value': '0.22', 'groupId': 'OG000'}, {'value': '0.15', 'groupId': 'OG001'}]}]}, {'title': 'Anterior cingulate cortex (BA 32)', 'categories': [{'measurements': [{'value': '0.515', 'groupId': 'OG000'}, {'value': '0.28', 'groupId': 'OG001'}]}]}], 'analyses': [{'pValue': '<0.05', 'groupIds': ['OG000', 'OG001'], 'ciNumSides': 'TWO_SIDED', 'pValueComment': 'This p-value is adjusted for family wise error rate correction.', 'groupDescription': 'Two-way between-group t-tests restricted to the prefrontal cortex were performed to compare activation during for the 2-Back\\> 1-Back contrast between OTCD patients and controls.', 'statisticalMethod': 't-test, 2 sided', 'nonInferiorityType': 'SUPERIORITY_OR_OTHER', 'testedNonInferiority': False}], 'paramType': 'NUMBER', 'timeFrame': 'one time measurement at study baseline', 'description': 'Measure of blood oxygen level dependent (BOLD) signal of OTCD patients and healthy controls during an N-Back task comparing 2-back and 1-back conditions. This contrast was created for each participant using SPM and then entered into a group analysis in which we compare percent signal change between groups. Therefore, we never see BOLD signal change at the individual level, which is why we never see "scores" or numbers at the individual level and we cannot calculate a measure of dispersion for this data.', 'unitOfMeasure': 'percent signal change', 'reportingStatus': 'POSTED', 'populationDescription': 'Five OTCD patients and one healthy control were excluded due to excessive head motion.'}, {'type': 'PRIMARY', 'title': 'Fractional Anisotropy', 'denoms': [{'units': 'Participants', 'counts': [{'value': '19', 'groupId': 'OG000'}, {'value': '18', 'groupId': 'OG001'}]}], 'groups': [{'id': 'OG000', 'title': 'OTCD Patients', 'description': 'Female carriers of ornithine transcarbamylase deficiency (OTCD) or males with late onset presentation of OTCD'}, {'id': 'OG001', 'title': 'Healthy Controls', 'description': 'Healthy males or females without known medical or metabolic disorder (control group)'}], 'classes': [{'categories': [{'measurements': [{'value': '0.247', 'spread': '0.016', 'groupId': 'OG000'}, {'value': '0.274', 'spread': '0.015', 'groupId': 'OG001'}]}]}], 'analyses': [{'pValue': '<0.001', 'groupIds': ['OG000', 'OG001'], 'ciNumSides': 'TWO_SIDED', 'groupDescription': 'The null hypothesis predicted that fractional anisotropy, a marker of white matter integrity, would be the same for OTCD patients as for controls.', 'statisticalMethod': 't-test, 2 sided', 'nonInferiorityType': 'SUPERIORITY_OR_OTHER', 'testedNonInferiority': False}], 'paramType': 'MEAN', 'timeFrame': 'one time measurement at study baseline', 'description': 'Measure of white matter integrity in OTCD Patients and Controls in frontal white matter. Fractional anisotropy values fall on a scale of 0 to 1, with 0 meaning that the diffusion of water is isotropic and unrestricted, or equally restricted, in all directions and with 1 meaning that diffusion occurs along only one axis and is fully restricted along all other directions. Scores closer to 1 are associated with intact white matter while scores closer to 0 are associated with white matter damage.', 'unitOfMeasure': 'units on a scale', 'dispersionType': 'Standard Deviation', 'reportingStatus': 'POSTED', 'populationDescription': 'Five OTCD Patients and four healthy controls were excluded due to excessive head motion.'}]}, 'participantFlowModule': {'groups': [{'id': 'FG000', 'title': 'Female Carriers of Ornithine Transcarbamylase Deficiency (OTCD', 'description': 'Female carriers of ornithine transcarbamylase deficiency (OTCD) or males with late onset presentation of OTCD'}, {'id': 'FG001', 'title': 'Healthy Males or Females Without Known Medical or Metabolic di', 'description': 'Healthy males or females without known medical or metabolic disorder (control group)'}], 'periods': [{'title': 'Overall Study', 'milestones': [{'type': 'STARTED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '24'}, {'groupId': 'FG001', 'numSubjects': '22'}]}, {'type': 'COMPLETED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '24'}, {'groupId': 'FG001', 'numSubjects': '22'}]}, {'type': 'NOT COMPLETED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '0'}, {'groupId': 'FG001', 'numSubjects': '0'}]}]}]}, 'baselineCharacteristicsModule': {'denoms': [{'units': 'Participants', 'counts': [{'value': '24', 'groupId': 'BG000'}, {'value': '22', 'groupId': 'BG001'}, {'value': '46', 'groupId': 'BG002'}]}], 'groups': [{'id': 'BG000', 'title': 'Female Carriers of Ornithine Transcarbamylase Deficiency (OTCD', 'description': 'Female carriers of ornithine transcarbamylase deficiency (OTCD) or males with late onset presentation of OTCD'}, {'id': 'BG001', 'title': 'Healthy Males or Females Without Known Medical or Metabolic di', 'description': 'Healthy males or females without known medical or metabolic disorder (control group)'}, {'id': 'BG002', 'title': 'Total', 'description': 'Total of all reporting groups'}], 'measures': [{'title': 'Age, Customized', 'classes': [{'title': 'Age', 'categories': [{'measurements': [{'value': '32.55', 'groupId': 'BG000', 'lowerLimit': '18', 'upperLimit': '58'}, {'value': '32.38', 'groupId': 'BG001', 'lowerLimit': '18', 'upperLimit': '59'}, {'value': '32.46', 'groupId': 'BG002', 'lowerLimit': '18', 'upperLimit': '59'}]}]}], 'paramType': 'MEAN', 'unitOfMeasure': 'years', 'dispersionType': 'FULL_RANGE'}, {'title': 'Sex: Female, Male', 'classes': [{'categories': [{'title': 'Female', 'measurements': [{'value': '17', 'groupId': 'BG000'}, {'value': '19', 'groupId': 'BG001'}, {'value': '36', 'groupId': 'BG002'}]}, {'title': 'Male', 'measurements': [{'value': '7', 'groupId': 'BG000'}, {'value': '3', 'groupId': 'BG001'}, {'value': '10', 'groupId': 'BG002'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'Ethnicity (NIH/OMB)', 'classes': [{'categories': [{'title': 'Hispanic or Latino', 'measurements': [{'value': '1', 'groupId': 'BG000'}, {'value': '1', 'groupId': 'BG001'}, {'value': '2', 'groupId': 'BG002'}]}, {'title': 'Not Hispanic or Latino', 'measurements': [{'value': '23', 'groupId': 'BG000'}, {'value': '21', 'groupId': 'BG001'}, {'value': '44', 'groupId': 'BG002'}]}, {'title': 'Unknown or Not Reported', 'measurements': [{'value': '0', 'groupId': 'BG000'}, {'value': '0', 'groupId': 'BG001'}, {'value': '0', 'groupId': 'BG002'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'Race (NIH/OMB)', 'classes': [{'categories': [{'title': 'American Indian or Alaska Native', 'measurements': [{'value': '0', 'groupId': 'BG000'}, {'value': '0', 'groupId': 'BG001'}, {'value': '0', 'groupId': 'BG002'}]}, {'title': 'Asian', 'measurements': [{'value': '1', 'groupId': 'BG000'}, {'value': '2', 'groupId': 'BG001'}, {'value': '3', 'groupId': 'BG002'}]}, {'title': 'Native Hawaiian or Other Pacific Islander', 'measurements': [{'value': '0', 'groupId': 'BG000'}, {'value': '0', 'groupId': 'BG001'}, {'value': '0', 'groupId': 'BG002'}]}, {'title': 'Black or African American', 'measurements': [{'value': '0', 'groupId': 'BG000'}, {'value': '5', 'groupId': 'BG001'}, {'value': '5', 'groupId': 'BG002'}]}, {'title': 'White', 'measurements': [{'value': '23', 'groupId': 'BG000'}, {'value': '15', 'groupId': 'BG001'}, {'value': '38', 'groupId': 'BG002'}]}, {'title': 'More than one race', 'measurements': [{'value': '0', 'groupId': 'BG000'}, {'value': '0', 'groupId': 'BG001'}, {'value': '0', 'groupId': 'BG002'}]}, {'title': 'Unknown or Not Reported', 'measurements': [{'value': '0', 'groupId': 'BG000'}, {'value': '0', 'groupId': 'BG001'}, {'value': '0', 'groupId': 'BG002'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'Region of Enrollment', 'classes': [{'title': 'United States', 'categories': [{'measurements': [{'value': '24', 'groupId': 'BG000'}, {'value': '22', 'groupId': 'BG001'}, {'value': '46', 'groupId': 'BG002'}]}]}], 'paramType': 'NUMBER', 'unitOfMeasure': 'participants'}], 'populationDescription': 'Half of the subjects were affected and half were normal controls age 18-60'}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 46}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2007-03'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2015-05', 'completionDateStruct': {'date': '2010-07', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2015-05-28', 'studyFirstSubmitDate': '2007-05-11', 'resultsFirstSubmitDate': '2015-04-22', 'studyFirstSubmitQcDate': '2007-05-11', 'lastUpdatePostDateStruct': {'date': '2015-06-24', 'type': 'ESTIMATED'}, 'resultsFirstSubmitQcDate': '2015-05-12', 'studyFirstPostDateStruct': {'date': '2007-05-14', 'type': 'ESTIMATED'}, 'resultsFirstPostDateStruct': {'date': '2015-05-29', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2009-07', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Concentration of Glutamine and Myoinositol by MRS', 'timeFrame': 'one time measurement at study baseline', 'description': "Concentration based on area under curve on 1H MRS and quantitated by LCModel. A metabolite's tissue concentration is related to the integrated amplitude of the MRS signal it produces. Integrated amplitude is the area under the MRS signal curve. While MRS signals are usually acquired in the time domain as free induction decays or echoes, they are usually viewed and analyzed in the frequency domain. The frequency domain representation is derived from the acquired time domain data by the Fourier Transform. The protocol we use selects 257 averages. This means, 257 free induction decays. The machine summates the data at each time point to generate one value for the area under the curve. Therefore, we don't have the measurement at each time point.\n\nFurthermore, we measured voxels in two different brain areas containing different kinds of brain matter: one voxel was located in posterior cingulate gray matter (PCGM) and the other in parietal white matter (PWM)."}, {'measure': 'Functional MRI Activation in N-Back Tast', 'timeFrame': 'one time measurement at study baseline', 'description': 'Measure of blood oxygen level dependent (BOLD) signal of OTCD patients and healthy controls during an N-Back task comparing 2-back and 1-back conditions. This contrast was created for each participant using SPM and then entered into a group analysis in which we compare percent signal change between groups. Therefore, we never see BOLD signal change at the individual level, which is why we never see "scores" or numbers at the individual level and we cannot calculate a measure of dispersion for this data.'}, {'measure': 'Fractional Anisotropy', 'timeFrame': 'one time measurement at study baseline', 'description': 'Measure of white matter integrity in OTCD Patients and Controls in frontal white matter. Fractional anisotropy values fall on a scale of 0 to 1, with 0 meaning that the diffusion of water is isotropic and unrestricted, or equally restricted, in all directions and with 1 meaning that diffusion occurs along only one axis and is fully restricted along all other directions. Scores closer to 1 are associated with intact white matter while scores closer to 0 are associated with white matter damage.'}]}, 'oversightModule': {'oversightHasDmc': True}, 'conditionsModule': {'keywords': ['UCD', 'OTCD', 'Ammonia', 'Urea Metabolism', 'Inborn Errors'], 'conditions': ['Brain Diseases, Metabolic, Inborn', 'Urea Cycle Disorder', 'Ornithine Transcarbamylase Deficiency']}, 'referencesModule': {'references': [{'pmid': '14705115', 'type': 'BACKGROUND', 'citation': 'Gyato K, Wray J, Huang ZJ, Yudkoff M, Batshaw ML. Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency. Ann Neurol. 2004 Jan;55(1):80-6. doi: 10.1002/ana.10794.'}, {'pmid': '12536032', 'type': 'BACKGROUND', 'citation': 'Kurihara A, Takanashi Ji, Tomita M, Kobayashi K, Ogawa A, Kanazawa M, Yamamoto S, Kohno Y. Magnetic resonance imaging in late-onset ornithine transcarbamylase deficiency. Brain Dev. 2003 Jan;25(1):40-4. doi: 10.1016/s0387-7604(02)00153-5.'}, {'pmid': '10946359', 'type': 'BACKGROUND', 'citation': 'McCullough BA, Yudkoff M, Batshaw ML, Wilson JM, Raper SE, Tuchman M. Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype. Am J Med Genet. 2000 Aug 14;93(4):313-9. doi: 10.1002/1096-8628(20000814)93:43.0.co;2-m.'}]}, 'descriptionModule': {'briefSummary': 'Urea cycle disorders (UCDs) are a group of rare inherited metabolism disorders. The purpose of this study is to evaluate how UCD-related neurologic injuries affect adults with one of the most common types of UCD.', 'detailedDescription': 'UCDs are a group of rare genetic diseases that affect how protein is broken down in the body. The cause of UCDs is a deficiency in one of eight enzymes responsible for removing ammonia, a waste product of protein metabolism, from the bloodstream. Normally, ammonia is converted into urea and then removed from the body in the form of urine. However, in people with UCDs, ammonia accumulates unchecked and is not removed from the body. Toxic levels of ammonia can build up and cause irreversible neurologic damage that can affect metabolism, cognition, sensation, and movement. This study will focus on the most common enzyme disorder among UCDs, ornithine transcarbamylase deficiency (OTCD), a disorder inherited from mothers. Using different types of magnetic resonance imaging (MRI), this study will evaluate how UCD-related neurologic injuries affect metabolism, cognition, sensation, and movement in adults with OTCD.\n\nParticipants in this study will attend an initial study visit that will include a review of medical history, current symptoms, impairments, and diet history; urine and blood collection; a physical exam; a full neurological exam; and cognitive and motor testing. During this visit, participants will undergo imaging studies and additional cognitive and motor testing over a 2- to 3-day period. This will include standard MRI studies and four sessions consisting of functional MRI (fMRI), diffusion tensor imaging, and 1H magnetic resonance spectroscopy. For the fMRI study, participants perform various motor and behavioral tasks while in the imaging scanner. Magnetic resonance spectroscopy (MRS) is used to study and evaluate the chemical makeup of specific brain areas. Diffusion tensor imaging is used to assess myelination of major brain pathways and their alteration in disease states. This study will involve one-time participation. There will be no follow-up visits for this study.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT'], 'maximumAge': '60 Years', 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Female carriers of ornithine transcarbamylase deficiency (OTCD) or males with late onset presentation of OTCD', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria for Participants with OTCD:\n\n* Diagnosis of OTCD or heterozygote state of OTCD by metabolic or molecular means. Female participants must be clinically stable and heterozygous for OTCD. Male participants must be hemizygous for late onset OTCD.\n\nInclusion Criteria for Healthy Controls:\n\n* No known medical or metabolic disorder\n\nInclusion Criteria for All Participants:\n\n* IQ of at least 80\n* Willing to travel to study site\n* English-speaking\n* Age between 18 and 60 years\n\nExclusion Criteria for All Participants:\n\n* Currently being treated for an acute illness\n* History of neuropsychiatric drug use\n* Unable to undergo MRI scanning without being sedated\n* Unable to participate in neurocognitive and/or motor testing\n* Metal device in body that might interfere with MRI scanning\n* Pregnancy or breastfeeding'}, 'identificationModule': {'nctId': 'NCT00472732', 'briefTitle': 'Neurologic Injuries in Adults With Urea Cycle Disorders', 'organization': {'class': 'OTHER', 'fullName': "Children's National Research Institute"}, 'officialTitle': 'Assessing Neural Mechanisms of Injury in Inborn Errors of Urea Metabolism Using Structural MRI, Functional MRI, and Magnetic Resonance Spectroscopy', 'orgStudyIdInfo': {'id': 'RDCRN 5104'}, 'secondaryIdInfos': [{'id': 'U54RR019453', 'link': 'https://reporter.nih.gov/quickSearch/U54RR019453', 'type': 'NIH'}]}, 'armsInterventionsModule': {'armGroups': [{'label': '1', 'description': 'Female carriers of ornithine transcarbamylase deficiency (OTCD) or males with late onset presentation of OTCD'}, {'label': '2', 'description': 'Healthy males or females without known medical or metabolic disorder (control group)'}]}, 'contactsLocationsModule': {'locations': [{'zip': '20037', 'city': 'Washington D.C.', 'state': 'District of Columbia', 'country': 'United States', 'facility': 'George Washington University School of Medicine', 'geoPoint': {'lat': 38.89511, 'lon': -77.03637}}, {'zip': '20057', 'city': 'Washington D.C.', 'state': 'District of Columbia', 'country': 'United States', 'facility': 'Georgetown University', 'geoPoint': {'lat': 38.89511, 'lon': -77.03637}}], 'overallOfficials': [{'name': 'Andrea Gropman, MD', 'role': 'STUDY_CHAIR', 'affiliation': "Children's National Research Institute"}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Andrea Gropman', 'class': 'OTHER'}, 'collaborators': [{'name': 'Office of Rare Diseases (ORD)', 'class': 'NIH'}, {'name': 'Rare Diseases Clinical Research Network', 'class': 'NETWORK'}, {'name': 'National Center for Research Resources (NCRR)', 'class': 'NIH'}], 'responsibleParty': {'type': 'SPONSOR_INVESTIGATOR', 'investigatorTitle': 'MD', 'investigatorFullName': 'Andrea Gropman', 'investigatorAffiliation': "Children's National Research Institute"}}}}