Search clinical trials for: Undiagnosed genetic rare diseases
Total 375649 results
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Mario Negri Institute for Pharmacological ResearchRecruitingDeveloping a Pipeline to Employ RNA-Seq as a Complementary Diagnostic Tool in Rare Diseases (ANTHEM)Healthy | Autosomal Dominant Polycystic Kidney | Atypical Hemolytic Uremic Syndrome | Membranoproliferative GlomerulonephritisItaly
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National Human Genome Research Institute (NHGRI)RecruitingDiabetes | Undiagnosed Diseases | Inherited Metabolic Disorders | Batten's Disease | Tay SachsUnited States
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University of Wisconsin, MadisonUniversity of Wisconsin Center for Human Genomics and Precision MedicineRecruitingRare Diseases | Genetic Disease | Undiagnosed DiseaseUnited States
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National Heart, Lung, and Blood Institute (NHLBI)RecruitingGenetic Predisposition | Vascular Dysfunction | Genetic MutationsUnited States
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National Human Genome Research Institute (NHGRI)RecruitingGenetic DiseaseUnited 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 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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Mayo ClinicEnrolling by invitationRare Diseases | Undiagnosed DiseaseUnited States
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Mayo ClinicEnrolling by invitationUndiagnosed Diseases | Rare Genetic DiseaseUnited States
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Xinhua Hospital, Shanghai Jiao Tong University...UnknownIntellectual Disability | Rare Diseases | Multiple Congenital AnomalyChina
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Massachusetts General HospitalAlexion PharmaceuticalsUnknownCholesterol Ester Storage Disease | Lysosomal Acid Lipase DeficiencyUnited States
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Brigham and Women's HospitalGenzyme, a Sanofi CompanyUnknown
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Splice BioRecruitingStargardt Disease | Stargardt's Disease | STGD1 | Stargardt
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Universitätsklinikum Hamburg-EppendorfRecruitingFamilial Adenomatous Polyposis | Adenomatous Polyposis Coli | Duodenal AdenomaGermany
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Hospices Civils de LyonNot yet recruitingAutoimmune Diseases | Genetic Disease | Autoinflammatory Disease | Systemic LupusFrance
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Cantonal Hospital GraubuendenUniversity of ZurichNot yet recruitingAutosomal Dominant Polycystic Kidney DiseaseSwitzerland
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Novo Nordisk A/SNot yet recruitingHealthy Volunteers Sickle Cell Disease, ThalassemiaUnited States
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Institut PasteurNot yet recruiting
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Assiut UniversityNot yet recruitingEKLF Mutations in Beta Thalassemia Patients
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Ascendis Pharma Growth Disorders A/SNot yet recruitingAchondroplasiaDenmark, Ireland, United Kingdom
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Firalis SARecruiting
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Ionis Pharmaceuticals, Inc.Not yet recruitingMethyl CpG Binding Protein 2 (MECP2) Duplication Syndrome
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Hospices Civils de LyonNot yet recruitingWilson DiseaseFrance
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Novartis PharmaceuticalsNot yet recruitingPhiladelphia Chromosome-Positive Chronic Myeloid Leukemia in Chronic Phase
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SpliSense Ltd.RecruitingCystic FibrosisUnited States
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University of North Carolina, Chapel HillNorth Carolina Translational and Clinical Sciences InstituteNot yet recruitingColorectal Cancer | Rectal Cancer | Rectal Neoplasms | Colon Cancer | Colon Adenocarcinoma | Colon Rectal Cancer | Hereditary Nonpolyposis Colon CancerUnited States
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University of MonsRecruitingFacioscapulohumeral Muscular DystrophyBelgium
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University of Southern CaliforniaNational Cancer Institute (NCI)Not yet recruitingMalignant Solid Neoplasm | Breast Carcinoma | Metastatic Prostate Carcinoma | Ovarian Carcinoma | Triple-Negative Breast Carcinoma | Male Breast Carcinoma | Pancreatic Exocrine Neoplasm | Stage IVB Prostate Cancer American Joint Committee on Cancer v8United States
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Rocket Pharmaceuticals Inc.Not yet recruitingPyruvate Kinase DeficiencySpain, United States
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Amryt PharmaChiesi Farmaceutici S.p.A.Not yet recruitingEpidermolysis Bullosa, Junctional | Epidermolysis Bullosa, Dystrophic
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TakedaRecruitingDravet Syndrome (DS) | Lennox-Gastaut Syndrome (LGS)United Kingdom, Denmark
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Leiden University Medical CenterThe Dutch Brain Foundation (funding)Not yet recruitingCerebral Amyloid Angiopathy
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Regeneron PharmaceuticalsNot yet recruitingNon-transfusion Dependent Beta-thalassemia (NTDT)
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Assistance Publique - Hôpitaux de ParisInstitut PasteurRecruiting
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University of HaifaBnai Zion Medical Center; Clalit Health Services, Haifa and West GalileeNot yet recruitingCardiovascular Diseases | Infections | Autoimmune Diseases | Parkinson Disease | Dementia | Alzheimer Disease | Chronic Lymphocytic Leukemia | Monoclonal B-Cell Lymphocytosis | Cancers
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Instituto Nacional de Investigacao em Saude, AngolaFUNDAÇAO CALOUSTE GULBENKIAN; FUNDACIÓN BANCARIA CAIXA D'ESTALVIS I PENSIONS... and other collaboratorsRecruitingPregnancy Complications | Pregnancy Related | Sickle Cell Disease | Pre-EclampsiaAngola
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Ospedale San RaffaeleRecruitingHypertension | AKI | CKD | Hematologic Malignancy | Ckd-Mbd | ADPKD | Bone Marrow Transplant Complications | CKD (Chronic Kidney Disease) Stage 5DItaly
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AstraZenecaRecruitingCarpal Tunnel Syndrome | Amyloidosis | Polyneuropathy | Hereditary Transthyretin AmyloidosisRussian Federation
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Ultragenyx Pharmaceutical IncNot yet recruitingAngelman SyndromeUnited States, Australia, Canada, Germany, United Kingdom, Israel, France, Spain
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Poitiers University HospitalRecruiting
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SpinogenixAvance Clinical Pty Ltd.Not yet recruiting
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Children's Hospital Los AngelesNot yet recruitingCystic Fibrosis | Constipation Chronic IdiopathicUnited States
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IRCCS Ospedale San RaffaeleNot yet recruitingRare Diseases | Corneal Neovascularization | Limbal Stem Cell Deficiency | Aniridia | Neurotrophic Keratopathy | Ocular Cicatricial Pemphigoid | Ocular Graft-versus-host Disease | EEC Syndrome
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Ospedale San RaffaeleFondazione IRCCS Ca' Granda, Ospedale Maggiore PoliclinicoRecruitingNon-Tuberculous Mycobacterial Pneumonia | Cystic Fibrosis LungItaly
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Masonic Cancer Center, University of MinnesotaNot yet recruitingAcquired Pure Red Cell Aplasia | Paroxysmal Nocturnal Hemoglobinuria | Severe Aplastic Anemia | Acquired Amegakaryocytic Thrombocytopenia
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Avidity Biosciences, Inc.Not yet recruitingMyotonic Dystrophy | Myotonic Disorders | Myotonia | Myotonic Dystrophy Type 1 (DM1) | Myotonic Dystrophy 1 | Myotonic Muscular Dystrophy | DM1 | Dystrophy Myotonic | Steinert Disease | Steinert
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QED Therapeutics, Inc.RecruitingHypochondroplasiaUnited States, Australia, Norway, Portugal, Singapore, Spain
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Nido Biosciences, Inc.RecruitingSpinal and Bulbar Muscular Atrophy | Kennedy's DiseaseKorea, Republic of, Denmark, Italy, United Kingdom
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Johns Hopkins UniversityNational Center for Complementary and Integrative Health (NCCIH); Bowdoin CollegeRecruitingTourette Syndrome | Tic Disorders | Tourette's Disorder | Persistent Tic Disorder | Chronic Motor Tic Disorder | Chronic Vocal Tic Disorder | Persistent Motor Tic Disorder | Persistent Vocal Tic DisorderUnited States
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Wave Life Sciences Ltd.Not yet recruiting