[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"urea-cycle-disorder\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:urea-cycle-disorder":22},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,50,80],{"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":32,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":38,"lastUpdatePostDateStruct":39,"startDateStruct":42,"completionDateStruct":44,"leadSponsor":46,"locationsCount":49},"100432223","hepatic-histopathology-in-urea-cycle-disorders-100432223",false,"NCT04908319","Hepatic Histopathology in Urea Cycle Disorders","Inclusion Criteria:\n\n* Diagnosis of primary urea cycle disorder based on clinical suspicion confirmed by enzyme activity, DNA testing or metabolite analysis.\n* History of liver transplantation and\u002For liver biopsy OR\n* Planned liver transplantation and\u002For liver biopsy\n\nExclusion Criteria:\n\n* Unavailability of histopathology report from the liver biopsy or explant, or unavailability of liver tissue or slides from the biopsy or explant OR\n* Anticipated inability to obtain pathology report, liver disease, tissue blocks, or pathology slides after liver biopsy or transplantation\n* Known history of a secondary cause for liver disease such as chronic viral hepatitis, autoimmune liver disease, short gut, small bowel syndrome, alcohol liver disease, or TPN-related cholestatic disease","ALL",{"count":17,"type":18},70,"ESTIMATED","OBSERVATIONAL","This is a multi-site, retrospective chart review as well as a prospective study to evaluate histopathologic findings in liver samples from individuals with any UCD diagnosis. This study will be conducted at all Urea Cycle Disorders Consortium (UCDC) sites: Baylor College of Medicine in Houston, TX and Children's National Medical Center in Washington D.C.",[22,23,24,25,26,27,28,29,30,31],"Urea Cycle Disorder","Ornithine Transcarbamylase Deficiency","Citrullinemia 1","ARGI Deficiency","ASL Deficiency","Argininosuccinic Aciduria","ASS Deficiency","Hyperargininemia","Carbamyl Phosphate Synthetase Deficiency","NAGS Deficiency",[33,34,35,36],"Liver transplant","Liver disease","Liver biopsy","Histopathology","RECRUITING","2025-07-17",{"date":40,"type":41},"2025-07-20","ACTUAL",{"date":43,"type":41},"2022-02-24",{"date":45,"type":18},"2026-06-30",{"name":47,"class":48},"Baylor College of Medicine","OTHER",2,{"id":51,"slug":52,"hasResults":11,"nctId":53,"briefTitle":54,"officialTitle":55,"acronym":56,"eligibilityCriteria":57,"healthyVolunteers":11,"sex":15,"minAge":58,"maxAge":59,"enrollmentInfo":60,"targetDuration":4,"studyType":62,"phases":63,"briefSummary":65,"conditions":66,"keywords":4,"overallStatus":70,"whyStopped":4,"lastUpdateSubmitDate":71,"lastUpdatePostDateStruct":72,"startDateStruct":74,"completionDateStruct":76,"leadSponsor":78,"locationsCount":4},"100567181","myrarediet-a-novel-diet-tracking-tool-100567181","NCT06664840","MyRareDiet A Novel Diet Tracking Tool","MyRareDiet™: A Diet Tracking, Monitoring and Optimization mHealth Tool for Patients With Inborn Errors of Metabolism","MRD","Inclusion Criteria:\n\n* diagnosed with urea cycle disorder, propionic acidemia, maple syrup urine disease or methylmalonic acidemia\n* consuming a diet where ≥50% of energy is supplied by foods consumed orally\n* self-known (or prescribed) dietary energy goal and protein restriction\n* internet connected device to access MyRareDiet\n\nExclusion Criteria:\n\n* pregnant","1 Year","80 Years",{"count":61,"type":18},60,"INTERVENTIONAL",[64],"NA","The investigators propose to develop and validate MyRareDiet® (MRD) to address an unmet need in the inborn errors of metabolism (IEM) population to assist with dietary management designed to increase adherence and compliance to treatment guidelines, while facilitating the collection of dietary data from individuals with IEM for research purposes.",[22,67,68,69],"Propionic Aciduria","Maple Syrup Urine Disease","Methylmalonic Acidemia","NOT_YET_RECRUITING","2024-10-28",{"date":73,"type":41},"2024-10-30",{"date":75,"type":18},"2024-11-15",{"date":77,"type":18},"2025-12-31",{"name":79,"class":48},"Oregon Health and Science University",{"id":81,"slug":82,"hasResults":11,"nctId":83,"briefTitle":84,"officialTitle":84,"acronym":4,"eligibilityCriteria":85,"healthyVolunteers":11,"sex":15,"minAge":86,"maxAge":87,"enrollmentInfo":88,"targetDuration":4,"studyType":19,"phases":4,"briefSummary":90,"conditions":91,"keywords":96,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":109,"lastUpdatePostDateStruct":110,"startDateStruct":112,"completionDateStruct":114,"leadSponsor":116,"locationsCount":118},"100408734","systemic-biomarkers-of-brain-injury-from-hyperammonemia-100408734","NCT04602325","Systemic Biomarkers of Brain Injury From Hyperammonemia","Inclusion Criteria:\n\n1. Inherited Hyperammonemias:\n\n   1. A clinical diagnosis of 1 of 7 diagnosed urea cycle disorders:\n\n      * N-acetylglutamate Synthetase Deficiency (NAGS)\n      * Carbamyl Phosphate Synthetase Deficiency (CPSD)\n      * Ornithine Transcarbamylase Deficiency (OTCD)\n      * Argininosuccinate Synthetase Deficiency (ASD)\n      * Argininosuccinate Lyase Deficiency (ALD)\n      * Arginase Deficiency (AD)\n      * Hyperammonemia-Hyperornithinemia-Homocitrullinuria (HHH)\n   2. A clinical diagnosis of 1 of 2 organic acidemias:\n\n      * Propionic Acidemia (PA)\n      * Methylmalonic Acidemia (MMA)\n2. Acute metabolic disorder without hyperammonemia, with neurological sequelae\n\n   1. Maple Syrup Urine Disease (MSUD)\n   2. Glutaric Acidemia (GA1)\n3. Acute metabolic disorder without hyperammonemia and without neurological sequelae\n\n   * Fatty Acid Oxidation Disorders:\n   * Medium Chain-Acyl CoA Dehydrogenase Deficiency\n   * Very Long Chain-Acyl CoA Dehydrogenase Deficiency\n   * Trifunctional Protein Deficiency\n   * Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency\n   * Carnitine Palmitoyltransferase I or II Deficiency\n   * Carnitine\u002FAcylcarnitine Translocase Deficiency\n   * Primary Carnitine Transport Deficiency\n4. Hypoxic-Ischemic Encephalopathy\n\nExclusion Criteria:\n\n* Prior Solid-Organ Transplant\n* Use of any other investigational drug, biologic, or therapy or any clinical or laboratory abnormality or medical condition that, as determined by the investigator, may interfere with or obscure the biomarker measurements","7 Years","18 Years",{"count":89,"type":18},24,"Ammonia is a waste product of protein and amino acid catabolism and is also a potent neurotoxin. High blood ammonia levels on the brain can manifest as cytotoxic brain edema and vascular compromise leading to intellectual and developmental disabilities. The following aims are proposed:\n\nAim 1 of this study will be to determine the chronology of biomarkers of brain injury in response to a hyperammonemic (HA) brain insult in patients with an inherited hyperammonemic disorder.\n\nAim 2 will be to determine if S100B, NSE, and UCHL1 are altered in patients with two other inborn errors of metabolism, Maple Syrup Urine Disease (MSUD) and Glutaric Acidemia (GA1).",[22,92,68,93,94,95],"Organic Acidemia","Glutaric Acidemia I","Fatty Acid Oxidation Disorder","Hypoxic-Ischemic Encephalopathy",[97,30,23,98,99,100,101,102,103,104,105,106,107,108],"N-acetylglutamate Synthetase Deficiency","Argininosuccinate Synthetase Deficiency","Argininosuccinate Lyase Deficiency","Arginase Deficiency","Hyperammonemia-Hyperornithinemia-Homocitrullinuria","Medium Chain-Acyl CoA Dehydrogenase Deficiency","Very Long Chain-Acyl CoA Dehydrogenase Deficiency","Trifunctional Protein Deficiency","Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency","Carnitine Palmitoyltransferase I or II Deficiency","Carnitine\u002FAcylcarnitine Translocase Deficiency","Primary Carnitine Transport Deficiency","2024-02-06",{"date":111,"type":41},"2024-02-07",{"date":113,"type":41},"2020-07-09",{"date":115,"type":18},"2027-05",{"name":117,"class":48},"Children's National Research Institute",1]