Search clinical trials for: Inborn Amino Acid Metabolism, Inborn Errors
Total 43230 results
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Myrtelle Inc.RecruitingCanavan DiseaseUnited States
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Rennes University HospitalRecruiting
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National Medical Research Center for Therapy and...Moscow State University of Medicine and DentistryRecruitingMedication Adherence | Adherence, Medication | Treatment Adherence | Familial Hypercholesterolemia | Motivational Interviewing | Adherence, Patient | Treatment Adherence and Compliance | Patient Compliance | Adherence | Hypercholesterolemia, Familial | Patient Adherence | Hypercholesterolemia, Autosomal Dominant and other conditionsRussian Federation
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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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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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Liverpool University Hospitals NHS Foundation TrustRecruitingAlkaptonuria | Homogentisic Acid | Homogentisate Dioxygenase | Alkaptonuria Severity Score IndexUnited Kingdom
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University Hospital, BordeauxRecruiting
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University Hospital, LilleNot yet recruiting
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Emory UniversityBioMarin PharmaceuticalRecruitingPhenylketonuriasUnited States
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Nutricia UK LtdNot yet recruitingPhenylketonurias | Hyperphenylalaninaemia
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Vitaflo International, LtdUniversity College London HospitalsRecruiting
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Recordati Rare DiseasesRecruitingPropionic Acidemia | Methylmalonic AcidemiaFrance, Spain, Italy, United Kingdom, Norway, Germany, Sweden
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ModernaTX, Inc.RecruitingPropionic AcidemiaUnited States, Canada, United Kingdom
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Liverpool John Moores UniversityLiverpool University Hospitals NHS Foundation TrustNot yet recruiting
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Aspa TherapeuticsRecruiting
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Huilian ZhuNot yet recruiting
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Washington University School of MedicineEunice Kennedy Shriver National Institute of Child Health and Human Development...RecruitingNiemann-Pick Disease, Type CUnited States
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Yassin Abdelghaffar Charity Center for Liver Disease...Society of Friends of Liver Patients in the Arab World (SLPAW)RecruitingHereditary Tyrosinemia, Type IEgypt
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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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Children's National Research InstituteBoston Children's HospitalRecruitingUrea Cycle DisordersUnited States
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National Human Genome Research Institute (NHGRI)RecruitingPropionic Acidemia | Metabolic Disease | Organic AcidemiaUnited States
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Krzysztof BankiewiczNational Institute of Neurological Disorders and Stroke (NINDS); University...Recruiting
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Mayo ClinicRecruitingCystinuria | Hyperoxaluria | Dent Disease | Lowe Syndrome | Adenine Phosphoribosyltransferase DeficiencyUnited States, Canada, Iceland, Israel
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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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Emory UniversityRecruiting
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Augusta UniversityUniversity of Iowa; Teikyo UniversityRecruitingFructose IntoleranceUnited States
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Andrea GropmanEunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaboratorsRecruitingBrain Diseases, Metabolic, Inborn | Amino Acid Metabolism, Inborn Errors | Urea Cycle DisordersUnited States, Canada, Germany, Switzerland
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National Human Genome Research Institute (NHGRI)RecruitingPulmonary Fibrosis | Healthy Volunteers | Hermansky-Pudlak Syndrome (HPS)United States
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National Human Genome Research Institute (NHGRI)RecruitingInborn Errors of Metabolism | Methylmalonic Acidemia | Organic AcidemiaUnited States
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National Human Genome Research Institute (NHGRI)Recruiting
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National Human Genome Research Institute (NHGRI)RecruitingHermansky-Pudlak Syndrome (HPS)United States
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National Human Genome Research Institute (NHGRI)CompletedPregnancy | Inborn Errors of Metabolism | AcidemiasUnited States
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Children's Hospital of PhiladelphiaCompletedMaple Syrup Urine DiseaseUnited States
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AmgenCompletedHomozygous Familial Hypercholesterolemia HoFHIndia
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Cellaion SATerminatedUrea Cycle Disorder | Crigler-Najjar Syndrome | Acute on Chronic Liver FailureBelgium, Spain, France, Bulgaria, Poland
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AmgenCompletedFamilial HypercholesterolemiaCanada, Italy, Norway, Belgium, United States, Turkey, Australia, Austria, South Africa, Poland, Switzerland, Spain, Portugal, Slovenia, Brazil, Russian Federation, Hungary, United Kingdom, Colombia, Czechia, Netherlands, Greece, Ma...
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Travere Therapeutics, Inc.Enrolling by invitation
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AmgenCompletedSevere Familial HypercholesterolemiaItaly, Czechia, United States, Israel, New Zealand, South Africa, France, Spain, Australia, Belgium, Canada, Netherlands, Hong Kong, Brazil, United Kingdom, Greece, Japan, Lebanon
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Ultragenyx Pharmaceutical IncActive, not recruitingOrnithine Transcarbamylase (OTC) DeficiencyCanada, United States, France, Spain, United Kingdom
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University of PittsburghCompleted
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Ajinomoto Co., Inc.Great Ormond Street Hospital for Children NHS Foundation Trust; Birmingham...Active, not recruiting
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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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Maastricht University Medical CenterEnrolling by invitationTuberous Sclerosis | Basal Cell Nevus Syndrome | Cutis Laxa | Epidermolysis Bullosa | Ichthyosis | Ectodermal Dysplasia | Albinism | Xeroderma Pigmentosum | Birt-Hogg-Dube Syndrome | Palmoplantar KeratosesNetherlands
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SynlogicTerminatedPhenylketonuriaUnited States, Canada, Georgia, Turkey
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IntraBio IncCompletedGM2 Gangliosidosis | Tay-Sachs Disease | Sandhoff DiseaseUnited States, Germany, Spain, United Kingdom
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Andrea GropmanChildren's National Research InstituteCompletedOrnithine Transcarbamylase Deficiency
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metaX Institut fuer Diatetik GmbHBirmingham Children's HospitalCompletedPhenylketonurias | Hyperphenylalaninaemia | Tetrahydrobiopterin DeficiencyUnited Kingdom
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Emma Marie Caroline SlackUniversity Children's HospitalCompletedInborn Errors of Metabolism | Propionic Aciduria | Methylmalonic Aciduria | Urea Cycle DisorderSwitzerland
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Hacettepe UniversityCompletedCaregiver Burden | Life Stress | Psychological Well-BeingTurkey
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LogicBio Therapeutics, IncAlexion Pharmaceuticals, Inc.TerminatedMethylmalonic AcidemiaUnited States