Search clinical trials for: cystathionine beta synthase deficiency
Total 18066 results
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Travere Therapeutics, Inc.Recruiting
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Travere Therapeutics, Inc.RecruitingNatural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (ACAPPELLA)Homocystinuria Due to CBS DeficiencyIreland, Qatar, United States, United Kingdom
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Travere Therapeutics, Inc.Active, not recruiting
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Aeglea BiotherapeuticsTerminatedHomocystinuria Due to Cystathionine Beta-Synthase DeficiencyUnited States, United Kingdom, Australia
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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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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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Rigshospitalet, DenmarkUnknownCarbohydrate Metabolism, Inborn Errors | Metabolism, Inborn Errors | Lipid Metabolism, Inborn Errors | Glycogen Storage Disease Type II | Glycogen Storage Disease Type V | VLCAD Deficiency | Glycogen Storage Disease Type III | Phosphoglycerate Kinase Deficiency | Neutral Lipid Storage Disease | Carnitine... and other conditionsDenmark
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University of Colorado, DenverCompletedHomocystinuriaUnited States
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University of Sao Paulo General HospitalNot yet recruitingMenopause | Testosterone Deficiency | Estrogen Deficiency
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Hospital Universitari Vall d'Hebron Research InstituteErasme University Hospital; Cyprus Institute of Neurology and Genetics; EuroBloodNet...RecruitingIron Metabolism Disorders | Sickle Cell Disease | Thalassemia | Hemolytic; Anemia, Hereditary, Due to Enzyme Disorder | Anemia Due to Membrane Defect | CDA | Sideroblastic Anemia | Constitutional Aplastic Anemia | Hereditary AnemiaSpain
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University of Colorado, DenverUniversity of Alabama at Birmingham; University of North Carolina, Chapel Hill and other collaboratorsNot yet recruitingHuman Immunodeficiency Virus | Mental DisorderKenya
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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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UK Kidney AssociationRecruitingVasculitis | AL Amyloidosis | Tuberous Sclerosis | Fabry Disease | Cystinuria | Focal Segmental Glomerulosclerosis | IgA Nephropathy | Bartter Syndrome | Pure Red Cell Aplasia | Membranous Nephropathy | Atypical Hemolytic Uremic Syndrome | Autosomal Dominant Polycystic Kidney Disease | Cystinosis | Nephronophthisis | BK Nephropathy and other conditionsUnited Kingdom
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IBSA Farmaceutici Italia SrlInformapro SrlRecruiting
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Norwegian School of Sport SciencesOslo University HospitalNot yet recruitingHealthy Aging | Testosterone Deficiency | Age-Related Sarcopenia
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University of MiamiNational Institute on Drug Abuse (NIDA)Not yet recruiting
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University of Maryland, College ParkNational Institute on Drug Abuse (NIDA); University of Miami; Weill Medical College... and other collaboratorsRecruitingAlcohol-Related Disorders | Substance Use | Drug Use | Human Immunodeficiency VirusSouth Africa
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Rambam Health Care CampusRecruitingBronchiectasis | Cystic Fibrosis | Bronchiolitis Obliterans | Primary Ciliary Dyskinesia | Primary Immune DeficiencyIsrael
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University of Colorado, DenverJohns Hopkins University; University of Alabama at Birmingham; Kenya Medical...RecruitingHuman Immunodeficiency VirusKenya
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Monash UniversityRecruitingHypogammaglobulinemia | Haematological MalignancyAustralia
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Desmond Tutu HIV FoundationNational Institute of Mental Health (NIMH); University of Pennsylvania; National...RecruitingHIV Infections | Treatment Adherence | MenSouth Africa
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Washington University School of MedicineJuvenile Diabetes Research FoundationRecruitingDiabetes Mellitus, Type 1United States
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The University of Hong KongQueen Mary Hospital, Hong KongRecruiting
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University of California, BerkeleyNational Institute of Mental Health (NIMH); Ministry of Health, Tanzania; Management... and other collaboratorsRecruiting
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Baylor College of MedicineLondon School of Hygiene and Tropical Medicine; Centers for Disease Control... and other collaboratorsRecruitingTuberculosis | HIV Coinfection | Tuberculosis InfectionSwaziland
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Great Ormond Street Hospital for Children NHS Foundation...National Institute for Health Research, United Kingdom; The Freya FoundationRecruitingPyruvate Dehydrogenase Complex Deficiency | Pyruvate Dehydrogenase E1 Alpha Deficiency | Pyruvate Dehydrogenase E1-Beta Deficiency | Pyruvate Dehydrogenase E2 Deficiency | Pyruvate Dehydrogenase Phosphatase DeficiencyUnited Kingdom
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Baylor College of MedicineThe Methodist Hospital Research Institute; Center for Cell and Gene Therapy...RecruitingHaploidentical Hematopoietic Cell Transplantation Using TCR Alpha/Beta and CD19 Depletion (HAPLOTAB)Myelodysplastic Syndromes | Primary Immunodeficiency Diseases | Hemoglobinopathies | Chronic Myeloid Leukemia | Cytopenia | Severe Aplastic Anemia | Bone Marrow Failure Syndrome | Acute Myeloid Leukemia in Remission | Hemophagocytic Lymphohistiocytoses | Acute Lymphoblastic Leukemia in Remission | Severe...United States
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Johns Hopkins UniversityNational Institute on Drug Abuse (NIDA); YR Gaitonde Centre for AIDS Research...Recruiting
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United Arab Emirates UniversityRecruitingDiabetic Kidney Disease | Magnesium Deficiency | Potassium ImbalanceUnited Arab Emirates
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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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National Medical Research Center for Rehabilitation...Pirogov Russian National Research Medical University; DNKOM LLC; The Orenburg...RecruitingCardiovascular Diseases | Nervous System Diseases | Urologic Diseases | Diabetes | Neuromuscular Diseases | Hypercholesterolemia | Gout | Hyperbilirubinemia | Hyper IgE Syndrome | Hyper-LDL-cholesterolemia | Hyper Beta Lipoproteinemia | Hyper Eosinophilic SyndromeRussian Federation
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Brigham and Women's HospitalNational Institutes of Health (NIH)RecruitingPain | Opioid Use | Androgen DeficiencyUnited States
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Erasmus Medical CenterNot yet recruitingDisorder of Sex Development, 46,XYNetherlands
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North Florida Foundation for Research and EducationUniversity of Florida; Brooks Rehabilitation; North Florida/South Georgia Veterans...RecruitingCentral Nervous System Diseases | Nervous System Diseases | Wounds and Injuries | Endocrine System Diseases | Gonadal Disorders | Trauma, Nervous System | Spinal Cord Diseases | Hypogonadism | Spinal Cord Injuries | Gait Disorders, Neurologic | Spinal Cord Injury | Wounds and Injury | Testosterone Deficiency | Hormone... and other conditionsUnited States
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Johns Hopkins All Children's HospitalRecruitingMetabolic Disease | Primary Immune Deficiency DisordersUnited States
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Actuate Therapeutics Inc.RecruitingNeuroblastoma | Pediatric Cancer | Diffuse Intrinsic Pontine Glioma | Pediatric Brain Tumor | Refractory Cancer | Refractory Neoplasm | Refractory Tumor | Cancer Pediatric | Neuroblastoma Recurrent | Pediatric Lymphoma | Pediatric MeningiomaUnited States
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Brown UniversityNational Institute of Mental Health (NIMH)RecruitingHIV/AIDSUnited States
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Huilian ZhuNot yet recruiting
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Dana-Farber Cancer InstituteNational Institute on Aging (NIA)RecruitingProstate CancerUnited States
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St Vincent's Hospital, SydneyRecruitingCastration-resistant Prostate Cancer | Homologous Recombination DeficiencyAustralia
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Nicholas Ah MewIcahn School of Medicine at Mount Sinai; Boston Children's HospitalRecruitingN-acetylglutamate Synthase (NAGS) DeficiencyUnited States
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Children's Hospital of PhiladelphiaUniversity of California, San FranciscoRecruitingImmunodeficiencies | Immune Dysregulation SyndromesUnited States
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University of FloridaRecruitingAlpha-1 Antitrypsin Deficiency | Cystic Fibrosis (CF) | AATD | AAT DeficiencyUnited 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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National Cancer Institute (NCI)RecruitingDOCK8 DeficiencyUnited States
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Genzyme, a Sanofi CompanyRecruitingGaucher Disease | Cerebroside Lipidosis Syndrome | Glucocerebrosidase Deficiency Disease | Glucosylceramide Beta-Glucosidase Deficiency DiseaseHungary, Croatia, United States, Australia, Belgium, Brazil, Bulgaria, Canada, Denmark, Germany, Greece, Hong Kong, India, Indonesia, Italy, Jordan, Korea, Republic of, Kuwait, Lebanon, Malaysia, Pakistan, Philippines, Poland, Saudi Arabia and more
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Johns Hopkins UniversityNational Institute of Allergy and Infectious Diseases (NIAID); YR Gaitonde...Active, not recruiting
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Columbia UniversityCompleted
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University of California, BerkeleyHealth for a Prosperous Nation; Tanzania Ministry of Health, Community Development... and other collaboratorsActive, not recruitingHIV (Human Immunodeficiency Virus)Tanzania