ornithine carbamoyltransferase deficiency
ornithine carbamoyltransferase deficiency
Explore linked clinical trials. Standard reference: MONDO:001070319 results · Page 1 of 1
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| Phase 1/2 Study of KRRO-121 in Healthy Volunteers and Patients With UCD | Adult-onset citrullinemia type 2, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, X-linked disease, arginase deficiency, argininosuccinic aciduria, brain disorder, central nervous system disorder, hereditary disease, hyperammonemia due to N-acetylglutamate synthase deficiency, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, nervous system disorder, ornithine carbamoyltransferase deficiency, urea cycle disorder | Recruiting | Phase 1 / Phase 2 | 2026-10-08 | NCT07773246 | |
| An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC Deficiency | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Hyperammonemia, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, X-linked disease, brain disorder, central nervous system disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, liver disorder, metabolic disease, nervous system disorder, ornithine carbamoyltransferase deficiency, urea cycle disorder | Active, not recruiting | Phase 3 | 2026-09-30 | NCT06255782 | |
| Clinical Study of DTX301 AAV-Mediated Gene Transfer for Ornithine Transcarbamylase (OTC) Deficiency | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, X-linked disease, brain disorder, central nervous system disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, nervous system disorder, ornithine carbamoyltransferase deficiency, urea cycle disorder | Active, not recruiting | Phase 3 | 2026-09-09 | NCT05345171 | |
| Ovarian Tissue Cryopreservation in Pre-Pubertal (OTC-Pre Pubertal) | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, X-linked disease, brain disorder, cancer, central nervous system disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, neoplasm, nervous system disorder, ornithine carbamoyltransferase deficiency, urea cycle disorder | Recruiting | Not stated | 2026-09-03 | NCT05299710 | |
| Long-term Follow-up (LTFU) Study of Participants in Any iECURE Protocol Using an Investigational Product (IP) | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Hyperammonemia, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, X-linked disease, brain disorder, central nervous system disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, liver disorder, metabolic disease, nervous system disorder, ornithine carbamoyltransferase deficiency, urea cycle disorder | Recruiting | Not stated | 2026-08-31 | NCT06805695 | |
| Early Check: Expanded Screening in Newborns | 3-hydroxy-3-methylglutaric aciduria, 3-hydroxyacyl-CoA dehydrogenase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-phosphoglycerate dehydrogenase deficiency, AGAT deficiency, Abnormalities, Multiple, Adrenal hyperplasia, congenital, type 5, Adrenoleukodystrophy, Neonatal, Angelman syndrome, Aortic Stenosis, Supravalvular, Arrhythmias, Cardiac, Barth syndrome, Bone Diseases, Developmental, Bone Diseases, Endocrine, Bone Diseases, Metabolic, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Canavan disease, Cardiac Conduction System Disease, Cardiovascular Abnormalities, Chronic Disease, Citrullinemia 1, Collagen Diseases, Congenital Abnormalities, Congenital Hyperinsulinism, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Diabetes Mellitus, Permanent Neonatal, With Neurologic Features, Digestive System Diseases, Disease Attributes, Duchenne muscular dystrophy, Dwarfism, Dyslipidemias, Epilepsies, Myoclonic, Epilepsy, Generalized, Epileptic Syndromes, Eye Diseases, Hereditary, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Fructose Metabolism, Inborn Errors, G6PD deficiency, Glycogen Storage Disease, Type IXA2, Hemic and Lymphatic Diseases, Hereditary Central Nervous System Demyelinating Diseases, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 4, Hyperphenylalaninemia, BH4-Deficient, B, Hypophosphatemia, Familial, Imprinting Disorders, Infant, Newborn, Diseases, Jervell and Lange-Nielsen syndrome, Jervell and Lange-Nielsen syndrome 1, Jervell and Lange-Nielsen syndrome 2, Krabbe disease, Leber congenital amaurosis 2, Leukoencephalopathies, Liddle syndrome, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, MPI-congenital disorder of glycosylation, Male Urogenital Diseases, Maple syrup urine disease, type 1A, Maple syrup urine disease, type 1B, Maple syrup urine disease, type 2, Menkes disease, Methylmalonic aciduria cblB type, Mucopolysaccharidosis I, Mucopolysaccharidosis III, Mucopolysaccharidosis Type IV A, Muscular Disorders, Atrophic, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Germ Cell and Embryonal, Neoplasms, Multiple Primary, Neoplasms, Nerve Tissue, Neurobehavioral Manifestations, Neurologic Manifestations, Niemann-Pick disease, Niemann-Pick disease type A, Niemann-Pick disease type C, Niemann-Pick disease, type C1, Niemann-Pick disease, type C2, Nutritional and Metabolic Diseases, Overweight, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Peroxisomal Disorders, Pitt-Hopkins syndrome, Prader-Willi syndrome, Primary Immunodeficiency Diseases, Rett syndrome, Schnyder corneal dystrophy, Sex Chromosome Disorders, Skin and Connective Tissue Diseases, Smith-Lemli-Opitz syndrome, Stickler syndrome type 1, Stickler syndrome type 2, Stress Disorders, Traumatic, Sulfatidosis, Tyrosinemia, Type I, Urogenital Abnormalities, Urogenital Diseases, Usher syndrome type 1B, Usher syndrome type 1C, Usher syndrome, type 1C, Usher syndrome, type 1F, Ventricular Outflow Obstruction, Waardenburg Syndrome, Type 2E, Waardenburg syndrome, Waardenburg syndrome type 1, Waardenburg syndrome type 2, Waardenburg syndrome type 2A, Wilson disease, Wolman disease, X-Linked Combined Immunodeficiency Diseases, X-linked Alport syndrome, X-linked disease, X-linked hypophosphatemic rickets, acrodermatitis enteropathica, acute stress disorder, adenine phosphoribosyltransferase deficiency, albinism, anemia, aortic valve disorder, aortic valve stenosis, apparent mineralocorticoid excess, arginase deficiency, argininosuccinic aciduria, autosomal recessive Alport syndrome, basal ganglia disorder, beta thalassemia, beta-ketothiolase deficiency, biotin-responsive basal ganglia disease, biotinidase deficiency, blood coagulation disease, blood platelet disease, bone disorder, brain disorder, calcium metabolic disease, carbamoyl phosphate synthetase I deficiency disease, cardiovascular disorder, carnitine palmitoyl transferase 1A deficiency, carnitine palmitoyltransferase II deficiency, carnitine-acylcarnitine translocase deficiency, central nervous system disorder, cerebrotendinous xanthomatosis, cholesteryl ester storage disease, chromosomal disorder, chronic granulomatous disease, citrullinemia, coagulation protein disease, combined immunodeficiency due to ZAP70 deficiency, congenital bile acid synthesis defect 1, congenital bile acid synthesis defect 2, congenital heart disease, congenital hypothyroidism, congenital isolated adrenocorticotropic hormone deficiency, connective tissue disorder, creatine transporter deficiency, cutaneous mucinosis, cystic fibrosis, cystinosis, demyelinating disease, diabetes mellitus, disease, disorder of glycogen metabolism, disorder of pilosebaceous unit, dopa-responsive dystonia due to sepiapterin reductase deficiency, encephalopathy due to GLUT1 deficiency, endocrine system disorder, epilepsy, epilepsy, early-onset, vitamin B6-dependent, epithelial neoplasm, eye disorder, factor VII deficiency, factor X deficiency, familial hemolytic anemia, familial isolated deficiency of vitamin E, fragile X syndrome, fructose-1,6-bisphosphatase deficiency, galactosemia, glucose metabolism disease, glutaryl-CoA dehydrogenase deficiency, glycogen storage disease I, glycogen storage disease II, glycogen storage disease IXb, glycogen storage disease IXc, glycogen storage disease Ib, guanidinoacetate methyltransferase deficiency, heart disorder, heart valve disorder, hematologic disorder, hemolytic anemia, hemophilia A, hemophilia B, hemorrhagic disease, hereditary disease, hereditary fructose intolerance, hereditary neoplastic syndrome, hereditary nephritis, hereditary skin disorder, histiocytosis, holocarboxylase synthetase deficiency, homocystinuria, homocystinuria due to methylene tetrahydrofolate reductase deficiency, hyperammonemia due to N-acetylglutamate synthase deficiency, hyperhomocysteinemia, hyperinsulinemic hypoglycemia, familial, 2, hyperinsulinism, hyperinsulinism-hyperammonemia syndrome, hypoglycemia, hypophosphatasia, hypophosphatemia, hypophosphatemic rickets, hypopigmentation of the skin, hypothyroidism, hypothyroidism due to TSH receptor mutations, immune system disorder, inborn carbohydrate metabolic disorder, inborn disorder of amino acid metabolism, inborn error of immunity, inborn errors of metabolism, inborn metal metabolism disorder, inborn mitochondrial metabolism disorder, inherited blood coagulation disorder, inherited hemoglobinopathy, inherited neurodegenerative disorder, intellectual disability, isovaleric acidemia, kidney disorder, leukocyte disorder, liver disorder, lung disorder, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, malignant endocrine neoplasm, maturity-onset diabetes of the young type 4, medium chain acyl-CoA dehydrogenase deficiency, metabolic disease, metachromatic leukodystrophy, methylcobalamin deficiency type cblE, methylmalonic aciduria and homocystinuria, methylmalonic aciduria and homocystinuria type cblC, methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, methylmalonic aciduria, cblA type, mitochondrial trifunctional protein deficiency, motor neuron disorder, movement disorder, mucopolysaccharidosis, mucopolysaccharidosis type 1, mucopolysaccharidosis type 2, mucopolysaccharidosis type 3A, mucopolysaccharidosis type 4, mucopolysaccharidosis type 6, mucopolysaccharidosis type 7, multiple carboxylase deficiency, multiple endocrine neoplasia, multiple endocrine neoplasia type 2B, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, neonatal severe primary hyperparathyroidism, neoplasm, nephritis, nervous system disorder, neurodegenerative disease, neuroepithelial neoplasm, neuromuscular disease, non-Langerhans cell histiocytosis, nutritional deficiency disease, nutritional disorder, obesity disorder, ocular cancer, oculocutaneous albinism, optic choroid disorder, ornithine aminotransferase deficiency, ornithine carbamoyltransferase deficiency, ornithine translocase deficiency, overnutrition, pancreas disorder, pancreatic agenesis 1, permanent neonatal diabetes mellitus, phagocyte bactericidal dysfunction, phenylketonuria, phosphorus metabolism disease, pituitary hormone deficiency, combined, 1, platelet storage pool deficiency, post-traumatic stress disorder, primary hyperoxaluria type 1, primary hyperoxaluria type 2, primary hyperoxaluria type 3, primitive neuroectodermal tumor, propionic acidemia, pseudohypoaldosteronism, pseudohypoaldosteronism type 1, psychiatric disorder, pyridoxal phosphate-responsive seizures, pyridoxine-dependent epilepsy, renal tubular transport disease, respiratory system disorder, retinal cancer, retinal disorder, retinoblastoma, riboflavin transporter deficiency, rickets, severe combined immunodeficiency, severe combined immunodeficiency due to DCLRE1C deficiency, severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency, sickle cell disease, skin disorder, skin pigmentation disorder, sphingolipidosis, spinal cord disorder, spinal muscular atrophy, steroid inherited metabolic disorder, sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, thalassemia, thyroid dyshormonogenesis 2A, thyroid dyshormonogenesis 3, thyroid dyshormonogenesis 5, thyroid dyshormonogenesis 6, thyroid gland disorder, transcobalamin II deficiency, transient neonatal diabetes mellitus, tuberous sclerosis 1, tuberous sclerosis 2, tyrosine hydroxylase deficiency, tyrosinemia, urea cycle disorder, urinary system disorder, uveal disorder, very long chain acyl-CoA dehydrogenase deficiency, vitamin D deficiency, vitamin deficiency disorder, von Willebrand disease (hereditary or acquired), von Willebrand disease 3, xanthomatosis | Active, not recruiting | Not stated | 2026-07-01 | NCT03655223 | |
| Long Term Follow Up to Evaluate DTX301 in Adults With Late-Onset OTC Deficiency | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, X-linked disease, brain disorder, central nervous system disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, nervous system disorder, ornithine carbamoyltransferase deficiency, urea cycle disorder | Active, not recruiting | Not stated | 2026-06-01 | NCT03636438 | |
| Optical Coherence Tomography And NEphropathy: The OCTANE Study | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Chronic Disease, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Urogenital Diseases, X-linked disease, brain disorder, cardiovascular disorder, central nervous system disorder, chronic renal failure syndrome, hereditary disease, hypertensive disorder, inborn disorder of amino acid metabolism, inborn errors of metabolism, kidney disorder, kidney failure, metabolic disease, nervous system disorder, ornithine carbamoyltransferase deficiency, urea cycle disorder, urinary system disorder, vascular disorder | Recruiting | Not stated | 2026-05-13 | NCT02132741 | |
| Liver Disease in Urea Cycle Disorders | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Citrullinemia 1, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Nutritional and Metabolic Diseases, X-linked disease, arginase deficiency, argininosuccinic aciduria, brain disorder, central nervous system disorder, citrullinemia, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, liver disorder, metabolic disease, nervous system disorder, ornithine carbamoyltransferase deficiency, urea cycle disorder | Active, not recruiting | Not stated | 2026-04-27 | NCT04612764 | |
| Study of CMP-CPS-001 in Healthy Volunteers and Participants With Abnormal Heterozygous OTC Genotype | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, X-linked disease, brain disorder, central nervous system disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, nervous system disorder, ornithine carbamoyltransferase deficiency, urea cycle disorder | Active, not recruiting | Phase 1 | 2026-04-22 | NCT06247670 | |
| Looking for VUS to Confirm Dominant Wolfram-like Syndrome Instead of Recessive Wolfram Syndrome | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, X-linked disease, brain disorder, central nervous system disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, nervous system disorder, ornithine carbamoyltransferase deficiency, urea cycle disorder | Active, not recruiting | Not stated | 2026-03-20 | NCT07485413 | |
| Outside the Cage (OTC) Robotic Esophagectomy | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Digestive System Neoplasms, Esophageal Neoplasms, Head and Neck Neoplasms, Neoplasms by Site, Nutritional and Metabolic Diseases, X-linked disease, brain disorder, central nervous system disorder, digestive system disorder, digestive system neoplasm, esophageal cancer, esophageal disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, neoplasm, nervous system disorder, ornithine carbamoyltransferase deficiency, urea cycle disorder | Not yet recruiting | Phase 1 | 2026-03-18 | NCT06735638 | |
| Epiretinal Membrane in Patients With DR. | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, X-linked disease, brain disorder, central nervous system disorder, eye disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, nervous system disorder, ornithine carbamoyltransferase deficiency, preretinal fibrosis, retinal disorder, urea cycle disorder | Not yet recruiting | Not stated | 2025-11-21 | NCT07241845 | |
| Hepatic Histopathology in Urea Cycle Disorders | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Citrullinemia 1, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Nutritional and Metabolic Diseases, X-linked disease, arginase deficiency, argininosuccinic aciduria, brain disorder, carbamoyl phosphate synthetase I deficiency disease, central nervous system disorder, citrullinemia, hereditary disease, hyperammonemia due to N-acetylglutamate synthase deficiency, inborn disorder of amino acid metabolism, inborn errors of metabolism, inborn mitochondrial metabolism disorder, liver disorder, metabolic disease, nervous system disorder, ornithine carbamoyltransferase deficiency, urea cycle disorder | Recruiting | Not stated | 2025-07-20 | NCT04908319 | |
| Abbott Vascular Medical Device Registry | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, X-linked disease, acute myocardial infarction, brain disorder, cardiovascular disorder, central nervous system disorder, coronary artery disorder, coronary restenosis, coronary stenosis, heart disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, myocardial ischemia, nervous system disorder, ornithine carbamoyltransferase deficiency, urea cycle disorder, vascular disorder | Recruiting | Not stated | 2025-07-03 | NCT04573660 | |
| Role of OCT & OCT Angiography in Patients With Posterior at the Uveitis Clinic of Assiut University Hospital. | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, X-linked disease, brain disorder, central nervous system disorder, eye disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, nervous system disorder, ornithine carbamoyltransferase deficiency, panuveitis, posterior uveitis, urea cycle disorder, uveal disorder, uveitis | Not yet recruiting | Not stated | 2025-04-21 | NCT06743906 | |
| A Study to Evaluate the Pharmacodynamics and Safety of ARCT-810 in Participants With OTCD | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, X-linked disease, brain disorder, central nervous system disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, nervous system disorder, ornithine carbamoyltransferase deficiency, urea cycle disorder | Recruiting | Phase 2 | 2025-03-17 | NCT06488313 | |
| Systemic Biomarkers of Brain Injury From Hyperammonemia | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hypoxia, Hypoxia, Brain, Nutritional and Metabolic Diseases, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, Signs and Symptoms, Respiratory, X-linked disease, arginase deficiency, argininosuccinic aciduria, brain disorder, brain hypoxia - ischemia, brain ischemia, carbamoyl phosphate synthetase I deficiency disease, cardiovascular disorder, carnitine-acylcarnitine translocase deficiency, central nervous system disorder, cerebrovascular disorder, citrullinemia, glutaryl-CoA dehydrogenase deficiency, hereditary disease, hyperammonemia due to N-acetylglutamate synthase deficiency, inborn disorder of amino acid metabolism, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inborn organic aciduria, maple syrup urine disease, medium chain acyl-CoA dehydrogenase deficiency, metabolic disease, mitochondrial trifunctional protein deficiency, nervous system disorder, ornithine carbamoyltransferase deficiency, ornithine translocase deficiency, perinatal asphyxia, urea cycle disorder, vascular disorder, very long chain acyl-CoA dehydrogenase deficiency | Recruiting | Not stated | 2024-02-07 | NCT04602325 | |
| Halting Ornithine Transcarbamylase Deficiency With Recombinant AAV in ChildrEn | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, X-linked disease, brain disorder, central nervous system disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, nervous system disorder, ornithine carbamoyltransferase deficiency, urea cycle disorder | Recruiting | Phase 1 / Phase 2 | 2023-11-07 | NCT05092685 |