[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"leadSponsorName\":\"Andrea Gropman\",\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:":41},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,1,0,[8],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":11,"sex":15,"minAge":4,"maxAge":4,"enrollmentInfo":16,"targetDuration":4,"studyType":19,"phases":4,"briefSummary":20,"conditions":21,"keywords":25,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":29,"lastUpdatePostDateStruct":30,"startDateStruct":33,"completionDateStruct":35,"leadSponsor":37,"locationsCount":40},"100075501","longitudinal-study-of-urea-cycle-disorders-100075501",false,"NCT00237315","Longitudinal Study of Urea Cycle Disorders","Inclusion Criteria:\n\n* Diagnosis of NAGS deficiency, defined as the detection of a pathogenic mutation, and\u002For decreased (less than 20 % of control) NAGS enzyme activity in liver ,and\u002For hyperammonemia and first degree relative meets at least one of the criteria for NAGS deficiency\n* Diagnosis of CPS I deficiency, defined as decreased (less than 20 % of control) CPS I enzyme activity in liver, and\u002For an identified pathogenic mutation, and\u002For hyperammonemia and first degree relative meets at least one of the criteria for CPS I deficiency\n* Diagnosis of OTC deficiency, defined as the identification of a pathogenic mutation, and\u002For less than 20% of control of OTC activity in the liver, and\u002For elevated urinary orotate (greater than 20 uM\u002FmM) in a random urine sample or after allopurinol challenge test, and\u002For hyperammonemia and first degree relative meets at least one of the criteria for OTC deficiency\n* Diagnosis of AS deficiency (Citrullinemia), defined as a greater than or equal to 10-fold elevation of citrulline in plasma, and\u002For decreased AS enzyme activity in cultured skin fibroblasts or other appropriate tissue, and\u002For identification of a pathogenic mutation in the AS gene, and\u002For hyperammonemia and first degree relative meets at least one of the criteria for AS Deficiency\n* Diagnosis of AL deficiency (Argininosuccinic Aciduria, ASA), defined as the presence of argininosuccinic acid in the blood or urine, and\u002For decreased AL enzyme activity in cultured skin fibroblasts or other appropriate tissue, and\u002For identification of a pathogenic mutation in the AL gene, and\u002For hyperammonemia and first degree relative meets at least one of the criteria for AL Deficiency\n* Diagnosis of ARG deficiency (Hyperargininemia), defined as a greater than or equal to 5-fold elevated arginine levels in the blood, and\u002For decreased arginase enzyme levels in red blood cells or other appropriate tissue, and\u002For identification of a pathogenic mutation in the ARG gene, and\u002For hyperammonemia and first degree relative meets at least one of the criteria for ARG Deficiency\n* Diagnosis of HHH Syndrome or ORNT deficiency, defined as a greater than or equal to 5-fold elevated plasma ornithine and homocitrulline levels in the urine, and\u002For a pathogenic mutation, and\u002For less than 20% residual labeled ornithine incorporation into protein in cultured fibroblasts, and\u002For hyperammonemia and first degree relative meets at least one of the criteria for HHH Syndrome or ORNT Deficiency\n* Diagnosis of CITR deficiency (Citrullinemia Type II), defined as elevated citrulline levels in the blood and a pathogenic mutation and\u002For hyperammonemia and first degree relative meets criteria for CITR Deficiency\n* Pending diagnosis of a UCD (UCD highly likely), defined as laboratory values highly suggestive of a UCD with symptomatic hyperammonemic episodes but without a verifiable diagnosis\n\nExclusion Criteria:\n\n* Hyperammonemia caused by an organic academia, lysinuric protein intolerance, mitochondrial disorder, congenital lactic academia, fatty acid oxidation defects, or primary liver disease\n* Rare and unrelated comorbidities (e.g., Down's syndrome, intraventricular hemorrhage in the newborn period, and extreme prematurity)","ALL",{"count":17,"type":18},1500,"ESTIMATED","OBSERVATIONAL","Urea cycle disorders (UCD) are a group of rare inherited metabolism disorders. Infants and children with UCD commonly experience episodes of vomiting, lethargy, and coma. The purpose of this study is to perform a long-term analysis of a large group of individuals with various UCDs. The study will focus on the natural history, disease progression, treatment, and outcome of individuals with UCD.",[22,23,24],"Brain Diseases, Metabolic, Inborn","Amino Acid Metabolism, Inborn Errors","Urea Cycle Disorders",[26,27],"Urea","Inherited metabolic disorders","RECRUITING","2024-02-10",{"date":31,"type":32},"2024-02-13","ACTUAL",{"date":34,"type":32},"2006-02",{"date":36,"type":18},"2026-07",{"name":38,"class":39},"Andrea Gropman","OTHER",15,""]