Search clinical trials for: Inherited Metabolic Disease
Total 385334 results
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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 Institute of Allergy and Infectious Diseases...RecruitingChronic Granulomatous Disease (CGD) | X-Linked Severe Combined Immune Deficiency (XSCID) | Leukocyte Adhesion Deficiency 1 (LAD) | Graft Versus Host Disease (cGvHD)United States
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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 Heart, Lung, and Blood Institute (NHLBI)Recruiting
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National Cancer Institute (NCI)RecruitingFanconi Anemia | Dyskeratosis Congenita | Diamond Blackfan Anemia | Shwachman Diamond Syndrome | Inherited Bone Marrow Failure Syndrome, Aplastic AnemiaUnited States
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National Institute of Neurological Disorders and...RecruitingMotor Neuron Disease | Muscular Dystrophy | Peripheral Nervous System Disease | Muscular DiseaseUnited States, Mali
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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)CompletedUndiagnosed Disease | Healthy Volunteer (Adult With Typically Developing Child) | Inherited Neurodegenerative Disorders | Inherited Metabolic Disorders (Inborn Errors of Metabolism) | Alzheimer's Disease and Related DementiasUnited States
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PTC TherapeuticsEnrolling by invitationInherited Mitochondrial DiseaseUnited States, France, Spain, United Kingdom, Italy, Poland, Japan
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Cyclo Therapeutics, Inc.Active, not recruitingNiemann-Pick Disease, Type C1United States, Taiwan, United Kingdom, Israel, Spain, Brazil, Italy, Australia, Turkey, Saudi Arabia, Argentina, Poland, Germany
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Hoffmann-La RocheActive, not recruitingHemophilia A | Mild Hereditary Factor VIII Deficiency Disease Without Inhibitor | Moderate Hereditary Factor VIII Deficiency Disease Without InhibitorUnited States, Netherlands, Belgium, France, Germany, South Africa, Spain, Canada, United Kingdom, 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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Sangamo TherapeuticsActive, not recruitingHemophilia B | Mucopolysaccharidosis I | Mucopolysaccharidosis IIUnited States
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Hospices Civils de LyonTerminated
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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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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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Bellicum PharmaceuticalsTerminatedHemoglobinopathies | Hemophagocytic Lymphohistiocytosis | Metabolic Disorders | Primary Immune Deficiency Disorders | Inherited Bone Marrow Failure SyndromeUnited States
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Khondrion BVJulius Clinical; ProPharma Group; CertaraCompletedMitochondrial Diseases | Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation | Maternally Inherited Diabetes and Deafness (MIDD) | Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke Like Episodes (MELAS) | Chronic Progressive External Ophthalmoplegia (CPEO)Netherlands, Denmark, United Kingdom, Germany
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Masonic Cancer Center, University of MinnesotaTerminatedSickle Cell Disease | Thalassemia | Cerebral Adrenoleukodystrophy | Inherited Metabolic Disorders | High Risk Hematologic DisordersUnited States
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PfizerCompletedTransthyretin Amyloidosis Cardiomyopathy (ATTR-CM)Italy, Romania, France, Australia, Austria, Portugal, Slovakia, Slovenia, Spain, United Kingdom
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Fondazione TelethonEnrolling by invitationImmunologic Deficiency SyndromesItaly
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PTC TherapeuticsNo longer available
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Idorsia Pharmaceuticals Ltd.Active, not recruitingFabry DiseaseUnited States, United Kingdom, Norway, Germany, Australia, Canada, Spain, Switzerland, Austria, Belgium, France, Netherlands, Poland
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PTC TherapeuticsCompletedPhenylketonuriaSpain, United States, Australia, Germany, United Kingdom, Brazil, Denmark, Canada, France, Georgia, Italy, Mexico, Netherlands, Portugal, Turkey
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Academisch Medisch Centrum - Universiteit van Amsterdam...Stichting MetakidsCompletedInherited Metabolic DisordersNetherlands
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GenSight BiologicsNo longer availableLeber Hereditary Optic Neuropathy (Optic, Atrophy, Hereditary, Leber)
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Paul SzabolcsEnrolling by invitationChronic Granulomatous Disease (CGD) | Wiskott-Aldrich Syndrome | Severe Chronic Neutropenia | Severe Combined Immunodeficiency (SCID) | Immunodeficiency With Predominant T-cell Defect, Unspecified | Hyper IgE Syndromes | Hyper IgM Deficiencies | Mendelian Susceptibility to Mycobacterial Disease | Common...United States
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University of FloridaLive Like Bella Pediatric Cancer ResearchCompletedCommon Variable Immunodeficiency | Severe Combined Immunodeficiency | Sickle Cell Disease | Hurler Syndrome | Chronic Granulomatous Disease | Thalassemia | Wiskott-Aldrich Syndrome | Adrenoleukodystrophy | X-linked Lymphoproliferative Disease | Diamond Blackfan Anemia | Bone Marrow Failure Syndrome | Hemophagocytic... and other conditionsUnited States
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SwanBio Therapeutics, Inc.Active, not recruitingAMN | AMN Gene Mutation | X-ALDUnited States, Netherlands, Germany
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Daniel BenjaminEunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaboratorsCompletedHeart Failure | Epilepsy | Pain | Pneumonia | Sepsis | Inflammation | Hypertension | Chronic Kidney Diseases | Hemophilia | Schizophrenia | Central Nervous System Infections | Nosocomial Pneumonia | Insomnia | Anxiety | Bipolar Disorder | Neutropenia | Staphylococcal Infections | Bradycardia | Seizures | Urinary Tract Infections | Pulmonary... and other conditionsUnited States, Canada, United Kingdom, Israel, Singapore
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BiogenIonis Pharmaceuticals, Inc.CompletedAmyotrophic Lateral SclerosisUnited States, Canada, Belgium, France, Australia, Japan, Denmark, Korea, Republic of, United Kingdom, Germany, Italy, Poland
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Talaris Therapeutics Inc.Duke UniversityTerminatedNiemann-Pick Disease | Alpha-mannosidosis | Tay Sachs Disease | Sandhoff Disease | Metachromatic Leukodystrophy (MLD) | Hurler-Scheie Syndrome | Hurler Syndrome (MPS I) | Hunter Syndrome (MPS II) | Sanfilippo Syndrome (MPS III) | Krabbe Disease (Globoid Leukodystrophy) | Adrenoleukodystrophy (ALD and AMN) | Pelizaeus...United States
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National Institute of Diabetes and Digestive and...Completed
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Geisinger ClinicNational Cancer Institute (NCI)CompletedLynch SyndromeUnited States
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National Heart, Lung, and Blood Institute (NHLBI)CompletedArterial Calcification | CD73 DeficiencyUnited States
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GenSight BiologicsActive, not recruitingLeber Hereditary Optic NeuropathyBelgium, Spain, United States, France, United Kingdom, Taiwan, Italy
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Aga Khan University Hospital, PakistanCompletedInborn Errors of MetabolismPakistan
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Hoffmann-La RocheCompletedHaemophilia A | Moderate Hereditary Factor VIII Deficiency Disease Without Inhibitor | Severe Hereditary Factor VIII Deficiency Disease Without InhibitorItaly
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Jerry Vockley, MD, PhDUltragenyx Pharmaceutical IncNo longer availableBarth Syndrome | Mitochondrial Trifunctional Protein Deficiency | Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency | Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2) | Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency | Glycogen Storage Disorders | Pyruvate Carboxylase Deficiency... and other conditionsUnited States
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Magenta Therapeutics, Inc.CompletedInherited Metabolic Disorders (IMD)United States
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Fred Hutchinson Cancer CenterNational Cancer Institute (NCI); National Heart, Lung, and Blood Institute... and other collaboratorsCompletedNon-Neoplastic Hematologic and Lymphocytic DisorderUnited States
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Nantes University HospitalCompletedHemophilia | Arthropathy | OsteopeniaFrance
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Ultragenyx Pharmaceutical IncCompletedOsteogenesis ImperfectaBelgium, United States, Canada, Germany
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Baxalta now part of ShireTerminatedHemophilia A | Hemophilia B | Bone Mineral DensityUnited States
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Magenta Therapeutics, Inc.TerminatedInherited Metabolic Disorders (IMD)United States
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GenSight BiologicsCompletedLeber Hereditary Optic NeuropathyUnited States, France, Italy, Spain, United Kingdom
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University of TriestePfizerUnknownAmyloid CardiomyopathyItaly
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National Heart, Lung, and Blood Institute (NHLBI)CompletedCancer | Muscle Weakness | Skin FibroblastsUnited States
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Bellicum PharmaceuticalsNo longer availableHurler Syndrome | Inborn Errors of Metabolism | Metachromatic Leukodystrophy | Inherited Metabolic Disorder | Lysosomal Storage DisorderUnited States