Search clinical trials for: autosomal dominant,
Total 410 results
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Akouos, Inc.Eli Lilly and CompanyRecruitingSensorineural Hearing Loss, BilateralUnited States, Taiwan, United Kingdom
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Université de SherbrookeAtaxia Charlevoix-Saguenay FoundationRecruitingAutosomal Recessive Spastic Ataxia of Charlevoix-SaguenayCanada
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Krystal Biotech, Inc.Not yet recruitingAutosomal Recessive IchthyosisUnited States
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Inozyme PharmaRecruitingPseudoxanthoma Elasticum | Generalized Arterial Calcification of Infancy | Autosomal Recessive Hypophosphatemic Rickets | Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency | ATP-Binding Cassette Subfamily C Member 6 DeficiencyUnited States, United Kingdom, Spain
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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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National Cancer Institute (NCI)RecruitingCarcinoma, Non-Small-Cell Lung | Non-Small Cell Lung Cancer | Non-Small Cell Lung Carcinoma | CarcinomasUnited States
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Institut National de la Santé Et de la Recherche...RecruitingLaminopathies | Emery Dreifuss Muscular Dystrophy 2 | LMNA-Related Congenital Muscular Dystrophy | Dilated Cardiomyopathy-1AFrance
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Assistance Publique - Hôpitaux de ParisNot yet recruitingAutosomal Recessive Congenital Ichthyosis | Epidermolytic IchthyosisFrance
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University Hospital, Strasbourg, FranceRecruiting
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ModernaTX, Inc.RecruitingGlycogen Storage DiseaseUnited States, Canada
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University of Texas Southwestern Medical CenterRecruitingGlucose Metabolism Disorders | Epilepsy | Glucose Transporter Type 1 Deficiency Syndrome | Glut1 Deficiency Syndrome 1 | Glut1 Deficiency Syndrome 1, Autosomal Recessive | Glucose Transporter Protein Type 1 Deficiency Syndrome | Glucose Transport DefectUnited States
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Inozyme PharmaNot yet recruitingGeneralized Arterial Calcification of Infancy | Autosomal Recessive Hypophosphatemic Rickets | Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency | ATP-Binding Cassette Subfamily C Member 6 Deficiency
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Aspa TherapeuticsRecruitingCanavan DiseaseUnited States
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National Medical Research Center for Children's...RecruitingCongenital IchthyosisRussian Federation
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Myrtelle Inc.RecruitingCanavan DiseaseUnited States
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Otsuka Pharmaceutical Development & Commercialization...RecruitingAutosomal Recessive Polycystic Kidney Disease (ARPKD)United States, Belgium, Spain, Germany, United Kingdom, Poland
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Otsuka Pharmaceutical Development & Commercialization...RecruitingAutosomal Recessive Polycystic Kidney (ARPKD)United States, United Kingdom, Belgium, Poland, France, Germany, Italy
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Dr. Rebecca SchuleGerman Research Foundation; German Center for Neurodegenerative Diseases (DZNE)RecruitingSpastic AtaxiaCanada, France, Germany, Italy, Netherlands, Turkey, United Kingdom
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University Hospital, Strasbourg, FranceRecruitingAutosomal Recessive Cerebellar AtaxiaFrance
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Aspa TherapeuticsRecruiting
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Indiana UniversityRecruitingAortic Valve Disease | Marfan Syndrome | Bicuspid Aortic Valve | Thoracic Aortic Aneurysm | Thoracic Aortic Dissection | Turner Syndrome | Vascular Ehlers-Danlos Syndrome | Familial Thoracic Aortic Aneurysm and Aortic Dissection | PHACE Syndrome | Aortopathies | Thoracic Aortic Disease | Thoracic Aortic Rupture and other conditionsUnited States
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National Institute of Allergy and Infectious Diseases...Recruiting
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Alkeus Pharmaceuticals, Inc.RecruitingStargardt Disease | Stargardt Macular Degeneration | Stargardt Macular Dystrophy | Autosomal Recessive Stargardt Disease 1 (ABCA4-related)United States
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Lisa Guay WoodfordNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)RecruitingNephronophthisis | Joubert Syndrome | Bardet Biedl Syndrome | Autosomal Recessive Polycystic Kidney Disease | Congenital Hepatic Fibrosis | Hepato/Renal Fibrocystic Disease | Meckel-Gruber Syndrome | Caroli Syndrome | Oro-Facial-Digital Syndrome Type I | Glomerulocystic Kidney DiseaseUnited States
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National Institute of Allergy and Infectious Diseases...Enrolling by invitationChronic Granulomatous Disease | p47 | Autosomal RecessiveUnited States
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Astellas Pharma Global Development, Inc.Active, not recruitingStargardt's Macular DystrophyItaly, United States, Israel, United Kingdom, Germany, Spain, Hungary, France
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Alkeus Pharmaceuticals, Inc.Enrolling by invitationStargardt Disease | Stargardt Macular Degeneration | Stargardt Macular Dystrophy | Autosomal Recessive Stargardt Disease 1 (ABCA4-related)United States
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National Human Genome Research Institute (NHGRI)CompletedGeneralized Arterial Calcification of Infancy | Autosomal Recessive Hypophosphatemic Rickets Type2United States
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Inozyme PharmaActive, not recruitingGeneralized Arterial Calcification of Infancy | Autosomal Recessive Hypophosphatemic Rickets | Ectonucleotide Pyrophosphatase/phosphodiesterase1 DeficiencyUnited States, Canada, Germany, France, United Kingdom
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Murdoch Childrens Research InstituteUniversity of Sydney; Sydney Children's Hospitals Network; Women's and Children... and other collaboratorsActive, not recruitingAutosomal Recessive Disorder | X-Linked Genetic DiseasesAustralia
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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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Children's Hospital of Orange CountyActive, not recruitingNeuronal Ceroid-Lipofuscinoses | Neuronal Ceroid Lipofuscinosis CLN2 | Spinocerebellar Ataxia, Autosomal Recessive 7United States
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University of Texas Southwestern Medical CenterNational Institute of Neurological Disorders and Stroke (NINDS)Active, not recruitingGlucose Metabolism Disorders | Epilepsy | Glucose Transporter Type 1 Deficiency Syndrome | Glut1 Deficiency Syndrome 1, Autosomal Recessive | Glucose Transporter Protein Type 1 Deficiency Syndrome | Glucose Transport Defect | GLUT1DS1United States
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TESS Research FoundationStanford UniversityEnrolling by invitationEpilepsy | Movement Disorders | Rare Diseases | Genetic Disorder | Citrate Transporter Deficiency | SLC13A5 Deficiency | EIEE25 | Kohlschutter-Tonz Syndrome (Non-ROGDI) | 17p13.1 Deletions Confined to SLC13A5 Gene | Citrate Transporter DisorderUnited States
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National Heart, Lung, and Blood Institute (NHLBI)CompletedParkinson Disease 6, Early-Onset | Parkinson Disease (Autosomal Recessive, Early Onset) 7, Human | Parkinson Disease Autosomal Recessive, Early Onset | Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1United States
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Élise DuchesneMuscular Dystrophy CanadaCompletedAutosomal Recessive Spastic Ataxia of Charlevoix-SaguenayCanada
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Juan PascualNational Institute of Neurological Disorders and Stroke (NINDS)CompletedGlucose Metabolism Disorders | Epilepsy | Glucose Transporter Type 1 Deficiency Syndrome | Glut1 Deficiency Syndrome 1, Autosomal Recessive | Glucose Transporter Protein Type 1 Deficiency Syndrome | Glucose Transport Defect | GLUT1DS1United States
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Rocket Pharmaceuticals Inc.California Institute for Regenerative Medicine (CIRM)TerminatedInfantile Malignant OsteopetrosisUnited States
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Kadmon Corporation, LLCCompletedPolycystic Kidney, Autosomal RecessiveUnited States
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The Rogosin InstituteWeill Medical College of Cornell UniversityCompleted
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Krystal Biotech, Inc.Active, not recruitingTGM-1 Related Autosomal Recessive Congenital IchthyosisUnited States
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Northwestern UniversityIcahn School of Medicine at Mount SinaiCompletedNetherton Syndrome | Ichthyosis | Lamellar Ichthyosis | Autosomal Recessive Congenital Ichthyosis | Congenital Ichthyosiform Erythroderma | Epidermolytic IchthyosisUnited States
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Cadent TherapeuticsWithdrawnSpinocerebellar Ataxia Type 3 | Spinocerebellar Ataxias | Spinocerebellar Ataxia Type 1 | Spinocerebellar Ataxia Type 2 | Spinocerebellar Ataxia Type 6 | Spinocerebellar Ataxia Type 10 | Spinocerebellar Ataxia Type 7 | Spinocerebellar Ataxia Type 8 | Spinocerebellar Ataxia Type 17 | ARCA1 - Autosomal Recessive...United States
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Inozyme PharmaEngage Health Inc.; GACI GlobalCompletedGeneralized Arterial Calcification in Infancy | Autosomal Recessive Hypophosphatemic Rickets Type 2United States
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National Human Genome Research Institute (NHGRI)Completed
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Mercy Health OhioTerminatedOpen Fracture | Post-Op Wound InfectionUnited States
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Azienda Usl di BolognaUnknown
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Xiangbei Welman Pharmaceutical Co., LtdCompleted
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Fred Hutchinson Cancer CenterNational Cancer Institute (NCI); National Heart, Lung, and Blood Institute...CompletedSevere Combined Immunodeficiency | Adenosine Deaminase Deficiency | Immune System Disorder | Autosomal Recessive Disorder | Purine-Nucleoside Phosphorylase Deficiency | Severe Combined Immunodeficiency With Absence of T and B Cells | X-Linked Severe Combined ImmunodeficiencyUnited States