[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"ornithine-transcarbamylase-deficiency\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:ornithine-transcarbamylase-deficiency":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,5,0,[8,76,113,136,159],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":26,"conditions":27,"keywords":32,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":64,"lastUpdatePostDateStruct":65,"startDateStruct":68,"completionDateStruct":70,"leadSponsor":72,"locationsCount":75},"100535742","phase-1-an-open-label-study-to-investigate-ecur-506-in-male-babies-less-than-9-months-of-age-with-neonatal-onset-otc-deficiency-100535742",false,"NCT06255782","An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC Deficiency","A Phase 1\u002F2\u002F3 First-in-Human, Open-Label, Dose-Escalation Study to Evaluate the Safety and Efficacy of a Single Intravenous (IV) Administration of ECUR-506 in Males Less Than 9 Months of Age With Genetically Confirmed Neonatal Onset Ornithine Transcarbamylase (OTC) Deficiency","Key Inclusion Criteria:\n\n1. Male sex\n2. Gestational or adjusted (corrected) gestational age ≥ 37 weeks\n3. Age at screening is 24 hours to 7 months\n4. Weight ≥ 3.5 kg and ≤ 13.5 kg at screening\n5. Has received age-appropriate vaccinations\n6. Genetically confirmed OTCD defined by genetic confirmation of an OTC variant (pathogenic or likely pathogenic) associated with severe neonatal OTCD defined below in Inclusion Criteria #7 or has the same OTC variant as a family member who had severe neonatal OTCD within first week of life.\n7. Severe neonatal OTCD defined by hyperammonemic crisis with elevated ammonia level of \\>560 μmol\u002FL and clinical symptoms within first week of life, and currently receiving treatment with both dietary protein restriction and nitrogen scavenger therapy.\n8. Current or historical biochemical profile consistent with OTCD\n9. Participant's parent(s)\u002FLAR must be able to comprehend and be willing to provide a signed IRB\u002FIEC-approved ICF.\n\nKey Exclusion Criteria:\n\n1. Neonatal diagnosis of severe to profound Hypoxic Ischemic Encephalopathy due to birth injury\n2. Requiring urgent liver transplant due to liver failure as assessed by the PI.\n3. Contiguous gene deletion involving the OTC gene and including at least the CYBB gene on the telomeric side or the TSPAN7 gene on the centromeric side.\n4. Known or suspected major organ injury\u002Fdysfunction\u002Fanomalies.\n5. Vital sign and laboratory abnormalities outside of reference ranges.\n6. Treatment with any other gene therapy or gene editing therapy\n7. Co-enrollment in any other study unless approved by the sponsor.\n8. Any condition, that in the opinion of the Investigator, would compromise the safety of the participant or study data\n9. Documented vertical transmission of HepA\u002FHepB\u002FHepC\n10. Documented in-utero teratogen, substance, and\u002For alcohol exposure, which in the opinion of the Investigator may increase the participant's risk of developmental delays, congenital anomalies, and\u002For significant medical complications","MALE","24 Hours","7 Months",{"count":20,"type":21},20,"ESTIMATED","INTERVENTIONAL",[24,25],"PHASE1","PHASE2","Ornithine Transcarbamylase (OTC) deficiency, the most common urea cycle disorder, is an inherited metabolic disorder caused by a genetic defect in a liver enzyme responsible for detoxifying of ammonia. Individuals with OTC deficiency can develop elevated levels of ammonia in the blood, potentially resulting in severe consequences, including cumulative and irreversible neurological damage, coma, and death. The most severe form presents shortly after birth and occurs more commonly in boys than girls.\n\nThis is a Phase 1\u002F2\u002F3, open-label, multicenter study evaluating the safety, efficacy, and dose of ECUR-506 in male babies with neonatal-onset OTC deficiency. The primary objective is to evaluate the safety, tolerability, and efficacy of up to three dose levels of ECUR-506 following intravenous (IV) administration of a single dose.",[28,29,30,31],"Ornithine Transcarbamylase Deficiency","Ornithine Transcarbamylase Deficiency Disease","Ornithine Carbamoyltransferase Deficiency (Disorder)","Urea Cycle Disorders, Inborn",[33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48,49,50,51,52,53,54,55,28,56,57,58,59,60,61,62],"Amino Acid Metabolism, Inborn Errors","Ammonia","Brain Diseases","Brain Diseases, Metabolic","Brain Diseases, Metabolic, Inborn","Central Nervous System Diseases","Genetic Diseases, Inborn","Genetic Diseases, X-Linked","High Ammonia","Hyperammonemia","Inborn","Inborn Errors","Inherited Metabolic Disorders","Liver Disease","Liver Transplant","Metabolism","Metabolic Diseases","Metabolism, Inborn Errors","Neonatal","Nervous System Diseases","Neurometabolic disorders","NH4","Ornithine","OTC","OTC Deficiency","OTCD","Transcarbamylase","UCD","Urea Cycle Disorders","X-Linked","RECRUITING","2026-04-10",{"date":66,"type":67},"2026-04-15","ACTUAL",{"date":69,"type":67},"2024-04-08",{"date":71,"type":21},"2027-12",{"name":73,"class":74},"iECURE, Inc.","INDUSTRY",12,{"id":77,"slug":78,"hasResults":11,"nctId":79,"briefTitle":80,"officialTitle":80,"acronym":4,"eligibilityCriteria":81,"healthyVolunteers":11,"sex":82,"minAge":4,"maxAge":4,"enrollmentInfo":83,"targetDuration":4,"studyType":85,"phases":4,"briefSummary":86,"conditions":87,"keywords":97,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":102,"lastUpdatePostDateStruct":103,"startDateStruct":105,"completionDateStruct":107,"leadSponsor":109,"locationsCount":112},"100432223","hepatic-histopathology-in-urea-cycle-disorders-100432223","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":84,"type":21},70,"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.",[88,28,89,90,91,92,93,94,95,96],"Urea Cycle Disorder","Citrullinemia 1","ARGI Deficiency","ASL Deficiency","Argininosuccinic Aciduria","ASS Deficiency","Hyperargininemia","Carbamyl Phosphate Synthetase Deficiency","NAGS Deficiency",[98,99,100,101],"Liver transplant","Liver disease","Liver biopsy","Histopathology","2025-07-17",{"date":104,"type":67},"2025-07-20",{"date":106,"type":67},"2022-02-24",{"date":108,"type":21},"2026-06-30",{"name":110,"class":111},"Baylor College of Medicine","OTHER",2,{"id":114,"slug":115,"hasResults":11,"nctId":116,"briefTitle":117,"officialTitle":118,"acronym":4,"eligibilityCriteria":119,"healthyVolunteers":11,"sex":82,"minAge":120,"maxAge":4,"enrollmentInfo":121,"targetDuration":4,"studyType":22,"phases":123,"briefSummary":124,"conditions":125,"keywords":4,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":126,"lastUpdatePostDateStruct":127,"startDateStruct":129,"completionDateStruct":131,"leadSponsor":133,"locationsCount":135},"100553609","phase-2-a-study-to-evaluate-the-pharmacodynamics-and-safety-of-arct-810-in-participants-with-otcd-100553609","NCT06488313","A Study to Evaluate the Pharmacodynamics and Safety of ARCT-810 in Participants With OTCD","A Phase 2a, Open-label, Multiple Ascending Dose Study to Evaluate the Pharmacodynamics and Safety of ARCT-810 in Adolescent and Adult Participants With Ornithine Transcarbamylase Deficiency","Inclusion Criteria:\n\n1. Willingness and ability to comply with all the protocol requirements, complete all study visits and sign informed consent.\n2. Males and Females aged ≥12 years, at Screening.\n3. Documented clinical diagnosis of OTC deficiency.\n4. History of symptomatic hyperammonemia or elevated plasma ammonia or glutamine with clinical stability for at least 1 month prior to Screening.\n5. Medically managed for OTC deficiency and receiving a stable protein-restricted diet, dietary supplements, and\u002For ammonia scavenger regimen (if applicable) for at least 28 days.\n6. Good general health with no clinically significant abnormal findings that would interfere with study procedures (including plasma ammonia within participant's historical range).\n7. Must be willing to adhere to contraception guidelines.\n\nExclusion Criteria:\n\n1. Uncontrolled hypertension.\n2. Symptoms of infection for at least 7 days prior to dosing.\n3. Malignancy within 5 years, except for basal or squamous cell carcinoma of the skin or carcinoma in situ of the cervix that has been successfully treated.\n4. History of any OTC gene therapy, or history of liver-derived stem cell therapy in the past 2 years.\n5. History of any organ transplant.\n6. History of severe allergic reaction to a liposomal or PEG-containing product.\n7. History of congenital or acquired cardiac disorders.\n8. Abuse of medications, illicit drugs or alcohol.\n9. Blood donation of 50 to 499 mL within 30 days of screening or of \\>499 mL within 60 days of screening.\n10. Clinically significant laboratory abnormalities on screening labs including INR \\>1.5, eGFR\\\u003C 60 mL\u002Fmin\u002F1.73m2 or positive test results for HIV, HBV, or HCV.\n11. Inadequately controlled diabetes.\n12. Clinically significant anemia.\n13. Changes in maintenance therapies for OTC deficiency with 28 days prior to dosing.\n14. Medical history requiring continuous or intermittent systemic corticosteroid administration.\n15. Receipt of inhibitors of urea synthesis or drugs that significantly affect renal clearance.\n16. Recent treatment with another investigational drug, biological agent, or device.\n17. Treatment with any oligonucleotide (siRNA or mRNA) within 6 months prior to screening. COVID-19 vaccines are not exclusionary.\n18. Involved in study conduct or an immediate family member of an individual involved in the study.\n19. Participated in another dosing cohort of the study.\n20. Any other conditions, in the opinion of the investigator, that would interfere with participation.","12 Years",{"count":122,"type":21},9,[25],"Evaluate the safety and pharmacodynamics of multiple doses of ARCT-810 in adolescent and adult participants with OTC deficiency.",[57,28,58],"2025-03-13",{"date":128,"type":67},"2025-03-17",{"date":130,"type":67},"2024-11-04",{"date":132,"type":21},"2026-09-01",{"name":134,"class":74},"Arcturus Therapeutics, Inc.",1,{"id":137,"slug":138,"hasResults":11,"nctId":139,"briefTitle":140,"officialTitle":140,"acronym":4,"eligibilityCriteria":141,"healthyVolunteers":11,"sex":82,"minAge":18,"maxAge":142,"enrollmentInfo":143,"targetDuration":4,"studyType":85,"phases":4,"briefSummary":145,"conditions":146,"keywords":147,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":151,"lastUpdatePostDateStruct":152,"startDateStruct":154,"completionDateStruct":156,"leadSponsor":158,"locationsCount":135},"100578007","long-term-follow-up-ltfu-study-of-participants-in-any-iecure-protocol-using-an-investigational-product-ip-100578007","NCT06805695","Long-term Follow-up (LTFU) Study of Participants in Any iECURE Protocol Using an Investigational Product (IP)","Inclusion Criteria:\n\n1. Enrolled in an iECURE parent protocol and have either completed or discontinued that protocol\n2. Participant parent(s)\u002FLAR is willing and able to adhere to the protocol requirements.\n3. Consent was obtained by the participants parent(s)\u002FLAR (and participant assent, where applicable), prior to any study-related data being collected.\n\nExclusion Criteria:\n\n1\\. Participants who enroll into an interventional drug or gene therapy clinical trial utilizing an IP other than the IP provided in the parent protocol will be excluded from this protocol.","15 Months",{"count":144,"type":21},13,"This LTFU is being conducted to assess long-term safety and durability of response in participants dosed with IP in a parent protocol, and to collect longitudinal natural history in enrolled but not dosed participants who also participated in a parent protocol.",[28,29,31],[33,34,35,36,37,38,39,40,41,42,43,44,46,47,48,49,50,51,52,54,55,28,56,57,58,59,60,61,148,149,150],"Long Term Follow Up","Long-Term Follow-Up","LTFU","2025-01-28",{"date":153,"type":67},"2025-02-03",{"date":155,"type":67},"2024-12-23",{"date":157,"type":21},"2041-07",{"name":73,"class":74},{"id":160,"slug":161,"hasResults":11,"nctId":162,"briefTitle":163,"officialTitle":164,"acronym":165,"eligibilityCriteria":166,"healthyVolunteers":11,"sex":82,"minAge":167,"maxAge":168,"enrollmentInfo":169,"targetDuration":4,"studyType":22,"phases":170,"briefSummary":171,"conditions":172,"keywords":4,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":173,"lastUpdatePostDateStruct":174,"startDateStruct":176,"completionDateStruct":178,"leadSponsor":180,"locationsCount":135},"100446380","phase-1-halting-ornithine-transcarbamylase-deficiency-with-recombinant-aav-in-children-100446380","NCT05092685","Halting Ornithine Transcarbamylase Deficiency With Recombinant AAV in ChildrEn","Phase I\u002FII Open Label, Multicentre Clinical Trial to Assess Safety and Efficacy of AAVLK03hOTC for Paediatric Patients With Ornithine Transcarbamylase Deficiency.","HORACE","Inclusion Criteria:\n\n1. Patient (male or female) aged ≤16 years at time of written informed consent. For the dose escalation phase patients must be aged 6-16, for the dose expansion phase patients must be aged 0-16 (at the time of written informed consent).\n2. OTC deficiency confirmed via enzymatic or molecular analysis. This may include identification of pathogenic mutations or liver OTC activity that is \\\u003C20% of normal activity.\n3. Patient has severe disease defined by reduced protein allowance and prescribed at least one ammonia scavenger drug.\n4. Patient (if capable of signing) and parents or legal representative have signed a written informed consent form.\n5. Females of childbearing potential must have a negative pregnancy test in serum or urine at the screening and Day 0 infusion visits, and use an adequate contraception method from the screening visit until 4 weeks after the first negative plasma sample monitoring vector genomes copies or the week 52 visit, whatever comes first.\n6. Sexually active boys must use an adequate contraception method (abstinence or use of condom with spermicide) from at least 14 days prior to the infusion and until 4 weeks after the first negative plasma sample monitoring vector genomes copies or the week 52 visit, whatever comes first.\n7. Patient's ammonia level at baseline visit (pre-gene therapy infusion) is \\\u003C100µmol\u002FL and is within the range of historical ammonia levels obtained when the patient was clinically stable.\n8. Patient has been on a stable dose of ammonia scavenger and stable protein allowance for the last 4 weeks at the baseline visit.\n9. Patient is willing to commit to an additional 4 years of long-term safety follow-up.\n\nExclusion criteria:\n\n1. Titres of the neutralising antibodies against AAV-LK03 \\>1:5 serum dilution.\n2. Significant hepatic inflammation as evidenced by the following laboratory abnormalities: alanine aminotransferase or aspartate aminotransferase or bilirubin \\>2 x upper limit of normal (ULN), alkaline phosphatase \\>3 x ULN.\n3. Evidence of severe unexplained liver disease including but not limited to liver malignancy, liver cirrhosis, or acute liver failure.\n4. Evidence of active hepatitis B or C virus (HBV and HCV respectively) documented by hepatitis B surface antigen (HBsAg) or HCV RNA positivity.\n5. Positive PCR for human immunodeficiency virus (HIV).\n6. Liver transplant including hepatocytes\u002Fcells infusion.\n7. Current participation in another clinical trial of an investigational medicinal product or medical device, or participation within previous 12 months.\n8. Patient has contraindication to immunosuppression.\n9. Active infection (bacterial or viral).\n10. Pregnant or breastfeeding females.\n11. Patients with other serious underlying medical conditions including malignancy and severe (≥ grade 3) functional organ impairment (liver, kidney, respiratory) according to CTCAE v5.0. For neurological symptoms considered as sequelae of previous hyperammonaemic decompensation and which are considered as stable (i.e. not evolving), a grade 3 will be acceptable. Grade 4 and 5 will preclude inclusion.\n12. Patients with any other significant condition or disability that, in the investigator opinion, may interfere with the patient's optimal participation in the study.","0 Days","16 Years",{"count":75,"type":21},[24,25],"Ornithine transcarbamylase deficiency (OTCD) is an inherited metabolic liver disease which means that the body cannot maintain normal levels of ammonia. Ammonia levels can rise (called hyperammonaemic decompensations) which can be life-threatening and may result in impaired neurological development in children. OTCD is a rare genetic disorder characterised by complete or partial lack of the enzyme ornithine transcarbamylase (OTC).",[28],"2023-11-03",{"date":175,"type":67},"2023-11-07",{"date":177,"type":67},"2023-11-01",{"date":179,"type":21},"2027-06-30",{"name":181,"class":111},"University College, London"]