Clinical Trials on Autosomal Dominant Multiple Pterygium Syndrome
Total 1954 results
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Kastle Therapeutics, LLCIonis Pharmaceuticals, Inc.CompletedMetabolic Diseases | Congenital Abnormalities | Infant, Newborn, Diseases | Genetic Diseases, Inborn | Dyslipidemias | Metabolism, Inborn Errors | Lipid Metabolism Disorders | Hypercholesterolemia | Hyperlipidemias | Hyperlipoproteinemias | Lipid Metabolism, Inborn Errors | Hyperlipoproteinemia Type II | Metabolic... and other conditionsUnited States
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Wake Forest University Health SciencesCompleted
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Mayo ClinicNovartis; National Center for Research Resources (NCRR)CompletedLiver Diseases | Abdominal Pain | Polycystic Kidney, Autosomal Dominant | Hepatomegaly | Polycystic Liver Disease | Kidney, PolycysticUnited States
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Calcilytix Therapeutics, Inc., a BridgeBio companyRecruitingAutosomal Dominant HypocalcemiaUnited States, France, Denmark, Australia, Japan, Belgium, Canada, Italy, Netherlands, United Kingdom, Portugal, Finland, Germany
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Newcastle-upon-Tyne Hospitals NHS TrustRecruitingBethlem Myopathy | Ullrich Congenital Muscular Dystrophy 1, Digenic, Col6A1/Col6A2 | Ullrich Congenital Muscular Dystrophy 1, Autosomal Recessive | Ullrich Congenital Muscular Dystrophy 1, Autosomal Dominant | Bethlem Myopathy 1, Autosomal Recessive | UCMD | BTHLM1United Kingdom
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Kastle Therapeutics, LLCIonis Pharmaceuticals, Inc.CompletedMetabolic Diseases | Congenital Abnormalities | Infant, Newborn, Diseases | Genetic Diseases, Inborn | Dyslipidemias | Metabolism, Inborn Errors | Lipid Metabolism Disorders | Hypercholesterolemia | Hyperlipidemias | Hyperlipoproteinemias | Lipid Metabolism, Inborn Errors | Hyperlipoproteinemia Type II | Metabolic... and other conditionsUnited States, Canada, Brazil, Taiwan, Singapore, South Africa, United Kingdom
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Kastle Therapeutics, LLCIonis Pharmaceuticals, Inc.CompletedMetabolic Diseases | Congenital Abnormalities | Infant, Newborn, Diseases | Genetic Diseases, Inborn | Dyslipidemias | Metabolism, Inborn Errors | Lipid Metabolism Disorders | Hypercholesterolemia | Hyperlipidemias | Hyperlipoproteinemias | Lipid Metabolism, Inborn Errors | Hyperlipoproteinemia Type II | Metabolic... and other conditionsUnited States, Taiwan, Brazil, Canada, South Africa, United Kingdom, Singapore
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Assistance Publique - Hôpitaux de ParisCompletedSpinocerebellar Ataxia Type 1 | Spinocerebellar Ataxia Type 2 | Spinocerebellar Ataxia, Autosomal Recessive 3 | Episodic Ataxia, Type 7France
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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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Calcilytix Therapeutics, Inc., a BridgeBio companyRecruitingAutosomal Dominant Hypocalcemia (ADH)United States, Australia, United Kingdom, Denmark, Italy, France, Japan, Taiwan, Canada, Czechia, Netherlands
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Okuvision GmbHCompletedPrimary Open Angle Glaucoma | Retinal Vein Occlusion | Retinitis Pigmentosa | Retinal Artery Occlusion | Dry Age Related Macular Degeneration | Hereditary Macular Degeneration | Macula Off | Treated Retina Detachment | Non-Arthritic-Anterior-Ischemic Optic-Neuropathy | Hereditary Autosomal Dominant Optic... and other conditions
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Reata, a wholly owned subsidiary of BiogenCompletedFocal Segmental Glomerulosclerosis | IgA Nephropathy | Autosomal Dominant Polycystic Kidney | CKD Associated With Type 1 DiabetesUnited States
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National Institute on Deafness and Other Communication...Recruiting
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Hoffmann-La RocheNational Institute on Aging (NIA); Banner Alzheimer's InstituteCompleted
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Genentech, Inc.National Institute on Aging (NIA); Banner Alzheimer's InstituteCompleted
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ProQR TherapeuticsActive, not recruitingEye Diseases | Retinitis | Eye Diseases, Hereditary | Retinal Dystrophies | Vision Disorders | Retinal Disease | Autosomal Dominant Retinitis Pigmentosa | Vision TunnelUnited States
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Glostrup University Hospital, CopenhagenUnknownOptic Atrophy, Autosomal DominantDenmark
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Palladio BiosciencesCentessa Pharmaceuticals plcTerminatedPolycystic Kidney Disease, AdultUnited States
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University Hospital TuebingenRecruitingHereditary Spastic Paraplegia | Hereditary, Spastic Paraplegia, Autosomal DominantGermany
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QLT Inc.CompletedRetinitis Pigmentosa (RP)Canada, Ireland
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University of AarhusUnknownPseudohypoparathyroidism | Idiopathic Hypoparathyroidism | Autosomal Dominant HypocalcaemiaDenmark
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ShireTerminatedRetinitis PigmentosaUnited States
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Radboud University Medical CenterIpsenUnknownLiver Diseases | Hepatomegaly | Polycystic Liver Disease | Polycystic Kidney | Autosomal DominantNetherlands, Belgium
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Ariel UniversityUnknownDry Eye Syndromes | Pterygium
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Odense University HospitalUnknownAdult Polycystic Kidney DiseaseDenmark
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Thomas MuellerUnknownKidney Neoplasms | Adult Polycystic Kidney Disease | Kidney DysfunctionSwitzerland
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Indiana UniversityCompletedAutosomal Dominant Hypophosphatemic RicketsUnited States
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University of Wisconsin, MadisonRecruitingCerebral Autosomal Dominant Ateriopathy With Subcortical Infarcts and LeukoencephalopathyUnited 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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Mayo ClinicRecruitingCerebral Small Vessel Diseases | Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy | Cerebral Microbleeding | Sporadic White Matter DiseaseUnited States
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University Hospital, AngersNot yet recruitingNicotinamide Adverse Reaction
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Assistance Publique - Hôpitaux de ParisInstitute of Cardiometabolism and Nutrition, FranceCompletedFamilial Hypercholesterolemia - HeterozygousFrance
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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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National Cancer Institute (NCI)CompletedHamartoma Syndrome, Multiple | Cowden's DiseaseUnited States
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Kadmon Corporation, LLCCompletedPolycystic Kidney, Autosomal RecessiveUnited States
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Stanford UniversityNot yet recruitingPTEN Gene Mutation | PTEN Hamartoma Tumor Syndrome | PTEN Hamartoma SyndromeUnited States
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John Carroll UniversityUniversity Hospital Southampton NHS Foundation TrustActive, not recruitingPTEN Hamartoma Tumor SyndromeUnited States, United Kingdom
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Aga Khan UniversityBiocodexCompletedDiarrhea Dominant Irritable Bowel SyndromePakistan
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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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University of South FloridaBoston Children's HospitalCompletedPTEN Gene MutationUnited States
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Radboud University Medical CenterUnknownPTEN Hamartoma Tumor Syndrome
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Boston Children's HospitalEunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaboratorsCompletedPTEN Gene Mutation | PTEN Hamartoma Tumor SyndromeUnited States
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Xiaofan ZhuAvailableFanconi Anemia | Autosomal or Sex Linked Recessive Genetic Disease | Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases. | Hematopoiesis Maintainance.China
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Nationwide Children's HospitalEunice Kennedy Shriver National Institute of Child Health and Human Development...RecruitingPediatric Sepsis-induced Multiple Organ Dysfunction SyndromeUnited States
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Institut National de la Santé Et de la Recherche...Assistance Publique - Hôpitaux de ParisCompletedSpinocerebellar Ataxias | Spastic ParaplegiasFrance
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Children's Mercy Hospital Kansas CityKatherine Berry Richardson FoundationCompleted
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Chinese PLA General HospitalUnknownMultiple Organ Dysfunction SyndromeChina
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Hospital Universitario Principe de AsturiasPfizerUnknownMultiple Organ Dysfunction SyndromeSpain
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Lisa M. 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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Nationwide Children's HospitalEunice Kennedy Shriver National Institute of Child Health and Human Development...RecruitingPediatric Sepsis-induced Multiple Organ Dysfunction Syndrome (MODS)United States