Search clinical trials for: Carbamoyl Phosphate Synthetase Deficiency
Total 13431 results
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West Kazakhstan Medical UniversityRecruitingOrnithine Transcarbamylase Deficiency | Biotinidase Deficiency | Citrullinemia | Glutaric Acidemia Type II | Argininosuccinic Aciduria | Maple Syrup Urine Disease | Primary Carnitine Deficiency | Homocystinuria | Carnitine Palmitoyltransferase II Deficiency | Arginase Deficiency | Very Long-chain Acyl-CoA... and other conditionsKazakhstan
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Centre Hospitalier Universitaire de LiegeSanofi; Takeda; University of Liege; Orchard Therapeutics; Centre Hospitalier Régional... and other collaboratorsRecruitingCongenital Adrenal Hyperplasia | Hemophilia A | Hemophilia B | Mucopolysaccharidosis I | Mucopolysaccharidosis II | Cystic Fibrosis | Alpha 1-Antitrypsin Deficiency | Sickle Cell Disease | Fanconi Anemia | Chronic Granulomatous Disease | Wilson Disease | Severe Congenital Neutropenia | Ornithine Transcarbamylase... and other conditionsBelgium
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Baylor College of MedicineChildren's National Research InstituteRecruitingOrnithine Transcarbamylase Deficiency | Urea Cycle Disorder | Carbamyl Phosphate Synthetase Deficiency | Argininosuccinic Aciduria | Hyperargininemia | Citrullinemia 1 | ARGI Deficiency | ASL Deficiency | ASS Deficiency | NAGS DeficiencyUnited States
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RTI InternationalEunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaboratorsEnrolling by invitationPrimary Hyperoxaluria Type 3 | Diabetes Mellitus | Hemophilia A | Hemophilia B | Hereditary Fructose Intolerance | Cystic Fibrosis | Factor VII Deficiency | Phenylketonurias | Sickle Cell Disease | Dravet Syndrome | Duchenne Muscular Dystrophy | Prader-Willi Syndrome | Fragile X Syndrome | Chronic Granulomatous Disease and other conditionsUnited States
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Cytonet GmbH & Co. KGCompletedOrnithine Transcarbamylase Deficiency | Urea Cycle Disorders | Citrullinemia | Carbamoylphosphate Synthetase I DeficiencyGermany
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Uta Lichter-KoneckiMedical College of Wisconsin; Children's National Research InstituteCompletedUrea Cycle Disorders | Organic AcidemiasUnited States
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Children's Hospital of PhiladelphiaEunice Kennedy Shriver National Institute of Child Health and Human Development...WithdrawnUrea Cycle Disorders, Inborn | Inborn Errors of Metabolism | Propionic Acidemia | Methylmalonic Acidemia | Carbamyl Phosphate Synthetase Deficiency
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Children's National Research InstituteNational Center for Advancing Translational Sciences (NCATS)RecruitingHypoxic-Ischemic Encephalopathy | Urea Cycle Disorder | Organic Acidemia | Fatty Acid Oxidation Disorder | Maple Syrup Urine Disease | Glutaric Acidemia IUnited States
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Ira FoxTerminated
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Kaleido BiosciencesTerminatedUrea Cycle DisorderBelgium, United States, Spain, United Kingdom, Germany, Switzerland, Turkey
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Mendel TuchmanChildren's Hospital of Philadelphia; University of California, Los Angeles; Icahn... and other collaboratorsCompletedMethylmalonic Acidemia | Carbamoyl-Phosphate Synthase I Deficiency Disease | Propionic Acidemia, Type I and/or Type II | Ornithine Carbamoyltransferase DeficiencyUnited States
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National Human Genome Research Institute (NHGRI)TerminatedCitrullinemia | Argininosuccinic Aciduria | Hyperargininemia | Ornithine Carbamoyltransferase Deficiency | Carbamoyl-Phosphate Synthase I Deficiency | N-Acetylglutamate Synthase DeficiencyUnited States
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iECURE, Inc.RecruitingUrea Cycle Disorders, Inborn | Ornithine Transcarbamylase Deficiency | Ornithine Transcarbamylase Deficiency Disease | Ornithine Carbamoyltransferase Deficiency (Disorder)United Kingdom
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Quince Therapeutics S.p.A.BiotrialNot yet recruitingAtaxia TelangiectasiaBelgium, United States, Denmark, Germany, Italy, Norway, Poland, Spain, United Kingdom
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National Human Genome Research Institute (NHGRI)RecruitingMetabolic Disease | Purine-Pyrimidine Metabolism | AICDA, OMIM *605257, Immunodeficiency With Hyper-IgM, Type 2; HIGM2 | UNG, OMIM *191525, Hyper-IgM Syndrome 5 | NT5C3A<TAB>, OMIM *606224, Anemia, Hemolytic, Due to UMPH1 Deficiency | UMPS, OMIM *613891, Orotic Aciduria | DHODH, OMIM *126064,... and other conditionsUnited States
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Menzies School of Health ResearchPATH; Indonesia University; Institute of Tropical Medicine, Belgium; UNITAID; Burnet... and other collaboratorsRecruitingVivax Malaria | G6PD DeficiencyIndonesia
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Macfarlane Burnet Institute for Medical Research...PATH; UNITAID; University of Melbourne; Menzies School of Health Research; Medicines... and other collaboratorsRecruitingVivax Malaria | G6PD DeficiencyPapua New Guinea
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University of ThessalyNot yet recruitingOxidative Stress | Carbohydrate Metabolism Disorder | G6PD Deficiency
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University Hospital, Strasbourg, FranceRecruiting
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Arcturus Therapeutics, Inc.RecruitingOTC Deficiency | Ornithine Transcarbamylase Deficiency | OTCDSpain, Belgium, United Kingdom, Sweden
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The Affiliated Nanjing Drum Tower Hospital of Nanjing...RecruitingChemotherapy Effect | DNA Damage Repair Deficiency | Chemotherapeutic Toxicity | Hormone Sensitive Metastatic Prostate CancerChina
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Great Ormond Street Hospital for Children NHS Foundation...RecruitingChronic Kidney Diseases | Hyperphosphatemia | Chronic Kidney Disease-Mineral and Bone Disorder | Pediatric Kidney Disease | CKD-MBDUnited Kingdom
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Peking University People's HospitalPeking University First Hospital; Jiangsu Province Geriatric InstituteRecruitingDiabetes Mellitus, Type 2 | Severe Insulin Deficient DiabetesChina
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Ultragenyx Pharmaceutical IncRecruitingOTC DeficiencyUnited States, Portugal, Italy, Spain, United Kingdom, Japan, Canada, Germany, France, Argentina, Netherlands, Brazil
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Western University, CanadaWestern University; The Kidney Foundation of Canada; Academic Medical Organization... and other collaboratorsRecruitingKidney Diseases | Chronic Kidney Disease-Mineral and Bone Disorder | Fragility Fracture | Dialysis; ComplicationsCanada
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University College, LondonRecruitingOrnithine Transcarbamylase DeficiencyUnited Kingdom
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First Affiliated Hospital Xi'an Jiaotong UniversitySimcere CompanyRecruitingCerebral Infarction | G6PD DeficiencyChina
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Madhu Chhanda ChoudharyNational Institute of Allergy and Infectious Diseases (NIAID)Recruiting
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University of California, San FranciscoRecruitingSphingolipidoses | Enzyme DeficiencyUnited States
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Ankara City Hospital BilkentRecruitingCovid19 | Mortality | Phosphate DeficiencyTurkey
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MedicureRecruitingPyridox(am)Ine 5'-Phosphate Oxidase DeficiencyUnited States, Australia
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Institut PasteurInstitut Pasteur de la Guyane; Centre Hospitalier Andrée Rosemon de CayenneRecruiting
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Baylor College of MedicineChildren's Hospital of Philadelphia; Children's Hospital Colorado; Seattle Children... and other collaboratorsRecruitingOrnithine Transcarbamylase Deficiency | Urea Cycle Disorder | Argininosuccinic Aciduria | Hyperargininemia | Citrullinemia 1 | ARGI Deficiency | ASL Deficiency | ASS DeficiencyUnited States
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National Cancer Institute (NCI)RecruitingAcute Adult T-Cell Leukemia/Lymphoma | Adult T-Cell Leukemia/Lymphoma | Chronic Adult T-Cell Leukemia/Lymphoma | HTLV-1 InfectionUnited States
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First Affiliated Hospital, Sun Yat-Sen UniversityRecruitingStroke | G6PD DeficiencyChina
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ErydelRecruitingAtaxia TelangiectasiaUnited States, Australia, Belgium, Germany, India, Italy, Poland, Spain, Tunisia
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University of ThessalyNot yet recruiting
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National Cancer Institute (NCI)RecruitingMDS | Immunodeficiency | GATA2United States
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Sanford HealthNational Ataxia Foundation; Beyond Batten Disease Foundation; Pitt Hopkins Research... and other collaboratorsRecruitingMitochondrial Diseases | Retinitis Pigmentosa | Myasthenia Gravis | Eosinophilic Gastroenteritis | Multiple System Atrophy | Leiomyosarcoma | Leukodystrophy | Anal Fistula | Spinocerebellar Ataxia Type 3 | Friedreich Ataxia | Kennedy Disease | Lyme Disease | Hemophagocytic Lymphohistiocytosis | Spinocerebellar Ataxia... and other conditionsUnited States, Australia
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Masonic Cancer Center, University of MinnesotaRecruitingCommon Variable Immunodeficiency | Chronic Granulomatous Disease | Hemophagocytic Lymphohistiocytosis | Wiskott-Aldrich Syndrome | X-linked Lymphoproliferative Disease | Langerhan's Cell Histiocytosis | Chediak-Higashi Syndrome | Griscelli Syndrome | Bare Lymphocyte Syndrome | SCID | Omenn's Syndrome | Reticular... and other conditionsUnited States
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National Cancer Institute (NCI)RecruitingDOCK8 DeficiencyUnited States
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Fred Hutchinson Cancer CenterNational Heart, Lung, and Blood Institute (NHLBI); Rocket Pharma LimitedTerminated
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Quince Therapeutics S.p.A.CompletedGenetic Syndrome | Nervous System DiseaseIndia, United States, Australia, Germany, Italy, Norway, Poland, Spain, Tunisia, United Kingdom, Israel, Belgium
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Ultragenyx Pharmaceutical IncActive, not recruitingOrnithine Transcarbamylase (OTC) DeficiencyCanada, United States, France, Spain, United Kingdom
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Sanguine BiosciencesCompletedDepression | Melanoma | Epilepsy | Lymphoma | Multiple Sclerosis | Kidney Cancer | Cervical Cancer | Diabetes Mellitus | Leukemia | Breast Cancer | Chronic Kidney Diseases | Chronic Obstructive Pulmonary Disease | Parkinson's Disease | Systemic Lupus Erythematosus | Multiple Myeloma | Hepatitis B | Insomnia | Colorectal Cancer | HIV/AID... and other conditionsUnited States
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Roswell Park Cancer InstituteActive, not recruitingAcute Myeloid Leukemia | Polycythemia Vera | Myelofibrosis | Chronic Myelomonocytic Leukemia | Waldenstrom Macroglobulinemia | Acute Lymphoblastic Leukemia | Chronic Lymphocytic Leukemia | Secondary Acute Myeloid Leukemia | Sickle Cell Disease | Myelodysplastic Syndrome | Plasma Cell Myeloma | Chronic Granulomatous... and other conditionsUnited States
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Andrea GropmanChildren's National Research InstituteCompletedOrnithine Transcarbamylase Deficiency
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Yale UniversityNational Center for Advancing Translational Sciences (NCATS)SuspendedRickets | Hypophosphatemia | Hypercalciuria | XLH | HHRHUnited States
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Cedars-Sinai Medical CenterCompletedHypothalamic Amenorrhea | Estrogen Deficiency | Cardiovascular Disease (CVD)United States
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Albert Einstein College of MedicineNovo Nordisk A/S; National Institute on Aging (NIA)CompletedHIV Infection | Menopause | Aging | Dysbiosis | Vaginitis | Atrophic Vaginitis | Vaginal Atrophy | Menopause Related Conditions | Premature AgingUnited States