- ICH GCP
- US Clinical Trials Registry
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Clinical Trials on Genetic Mutation
Total 16234 results
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FDA Office of Orphan Products DevelopmentCompletedNeurofibromatosis 2United States
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National Heart, Lung, and Blood Institute (NHLBI)CompletedMyelodysplastic Syndrome | Acute Myeloid Leukemia (AML) | Chronic Myeloid Leukemia (CML)United States
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Children's Oncology GroupNational Cancer Institute (NCI)CompletedBrain and Central Nervous System Tumors | Neurofibromatosis Type 1Canada, United States
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Universitaire Ziekenhuizen KU LeuvenUnknownMagnetic Resonance Imaging | Neurofibromatosis 1 | Whole Body Imaging | Diffusion Magnetic Resonance Imaging | Peripheral Nerve Sheath Tumors, MalignantBelgium
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Genentech, Inc.CompletedDwarfism, Pituitary | Turner Syndrome
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PfizerTerminatedFamilial Adenomatous Polyposis (FAP)United States, Spain, Canada, Denmark
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Federico II UniversityUniversity of Genova; University Hospital, Udine, Italy; University of Perugia...CompletedGastrointestinal Neoplasms | Respiratory Tract Neoplasms | Pancreatic Neoplasms | Multiple Endocrine Neoplasia | Thymic NeoplasmsItaly
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National Institute of Neurological Disorders and...CompletedNeoplasms | Kidney Neoplasms | Kidney Diseases | Retinal Diseases | DeafnessUnited States
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University of AarhusAarhus University HospitalRecruitingCardiovascular Diseases | Inflammation | Lymphedema | Turner SyndromeDenmark
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Kyowa Kirin Korea Co., Ltd.RecruitingFGF23-related Hypophosphataemic Rickets and OsteomalaciaKorea, Republic of
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Verve Therapeutics, Inc.Not yet recruitingHeterozygous Familial Hypercholesterolemia | Premature Coronary Heart Disease
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Eline C. B. EskesRecruitingAsmd, Visceral TypeNetherlands
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Johns Hopkins UniversityRecruitingNeurofibromatosis 1 | Atypical Neurofibroma | Malignant Peripheral Nerve Sheath Tumor (MPNST) of Soft Tissue (Diagnosis)United States
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The Foundation for Orthopaedics and Regenerative...RecruitingGlaucoma | Eye Diseases | Macular Degeneration | Diabetic Retinopathy | Retinitis Pigmentosa | Optic Atrophy | Traumatic Optic NeuropathyAntigua and Barbuda, Argentina, Mexico
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University of North Carolina, Chapel HillThe Hospital for Sick Children; Washington University School of Medicine; McGill... and other collaboratorsRecruitingPrimary Ciliary Dyskinesia | Kartagener Syndrome | Primary Immune DeficiencyUnited States, Canada
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University Hospital HeidelbergCharite University, Berlin, Germany; Goethe University; University Medicine Greifswald and other collaboratorsRecruitingAmyloidosis | HCM - Hypertrophic Cardiomyopathy | Arrhythmogenic Right Ventricular Cardiomyopathy | Inflammatory Cardiomyopathy | DCM - Dilated Cardiomyopathy | Non-ischemic Cardiomyopathy | HOCM - Hypertrophic Obstructive Cardiomyopathy | Left Ventricular Noncompaction CardiomyopathyGermany
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Hospices Civils de LyonNot yet recruitingArteriovenous Malformations | Marfan Syndrome | Osler Rendu Disease | Vascular Anomaly | Lymphedema Primary | Cerebrospinal; DisorderFrance
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National Cancer Institute (NCI)RecruitingNeuroendocrine Tumors | Von Hippel-Lindau Disease | VHL Pancreatic Neuroendocrine TumorsUnited States
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University Hospital TuebingenRecruiting
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Imperial College LondonRecruitingBronchiectasis | Sleep Disorder | Asthma | Cystic Fibrosis | Bronchitis | Primary Ciliary DyskinesiaUnited Kingdom
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Vanderbilt UniversityEunice Kennedy Shriver National Institute of Child Health and Human Development...RecruitingNeurofibromatosis Type 1 | Reading Disability | NF1 | Learning DisabilityUnited States
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Gynecologic Oncology GroupNational Cancer Institute (NCI)Not yet recruitingLynch Syndrome | Recurrent Uterine Corpus Carcinoma | Stage I Uterine Corpus Cancer | Stage II Uterine Corpus Cancer | Stage III Uterine Corpus Cancer | Stage IV Uterine Corpus CancerUnited States
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National Human Genome Research Institute (NHGRI)CompletedBreast CancerUnited States
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Soutien aux Actions contre les Maladies du Globule...NovartisCompletedChange in Albumin to Creatinine Ratio and Glomerular Filtration Rate | Progression of Kidney Failure and or All-cause MortalityFrance
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University Hospital, MontpellierHospices Civils de Lyon; University Hospital, Bordeaux; University Hospital,... and other collaboratorsCompletedDilated Cardiomyopathy | Hypertrophic Cardiomyopathy | Brugada Syndrome | Long QT Syndrome | Arrhythmogenic Right Ventricular Dysplasia | Catecholaminergic Polymorphic Ventricular Tachycardia | Restrictive CardiomyopathyFrance
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National Cancer Institute (NCI)CompletedNeurofibromatosis Type 1 | Recurrent Childhood Pilocytic Astrocytoma | Recurrent Childhood Visual Pathway GliomaUnited States, Canada, Australia, New Zealand
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Xiamen Amoytop Biotech Co., Ltd.Tongji HospitalCompletedTurner Syndrome | Small for Gestational Age | Idiopathic Short StatureChina
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Brigham and Women's HospitalUniversity of MichiganCompletedPrimary Aldosteronism | Primary Aldosteronism Due to Adrenal Hyperplasia (Bilateral)United States
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Medical University of ViennaMedical University of Graz; Charite University, Berlin, Germany; Hannover Medical... and other collaboratorsCompletedSarcoma | Hematologic Diseases | Leukemia | Brain Tumor | Neurofibromatoses | NeuroblastomaAustria, Germany, Switzerland, Italy
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Rhythm Pharmaceuticals, Inc.CompletedBardet Biedl Syndrome (BBS) | Alström Syndrome (AS)United States, United Kingdom, France, Canada, Puerto Rico, Spain
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University of AarhusCompletedX-linked Hypophosphatemia | Hereditary HypophosphatemiaDenmark
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National Cancer Institute (NCI)CompletedNeurofibromatosis 1 | Peripheral Nerve Neoplasms, MalignantUnited States
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Georgetown UniversityNational Cancer Institute (NCI); Virginia Commonwealth UniversityEnrolling by invitation
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Kyowa Kirin Pharmaceutical Development LtdCompletedX-Linked HypophosphataemiaUnited Kingdom
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CENTOGENE GmbH RostockWithdrawnHypophosphatemia | Photophobia | Renal Fanconi SyndromeGermany, India, Sri Lanka
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Children's Oncology GroupNational Cancer Institute (NCI)CompletedMedulloblastoma | Nevoid Basal Cell Carcinoma Syndrome | Desmoplastic/Nodular Medulloblastoma | Medulloblastoma With Extensive NodularityUnited States, Canada, Puerto Rico, Australia
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Centre Hospitalier Universitaire de NīmesCompletedCerebral Amyloid Angiopathy | SiderosisFrance
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M.D. Anderson Cancer CenterCompletedAttenuated Familial Adenomatous Polyposis | Deleterious Familial Adenomatous PolyposisUnited States
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InCor Heart InstituteNovartisCompletedTuberous Sclerosis | Angiomyolipoma | LymphangioleiomyomatosisBrazil
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National Cancer Institute (NCI)CompletedFamilial Adenomatous Polyposis | Attenuated Familial Adenomatous PolyposisUnited States, Puerto Rico
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Neurogene Inc.TerminatedCharcot-Marie-Tooth Disease | Hereditary Motor and Sensory Neuropathy IVUnited States
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Baxalta now part of ShireCompletedPrimary Immunodeficiency Diseases (PID) | Immune Thrombocytopenic Purpura (ITP) | Kawasaki SyndromeUnited States
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University of FloridaNational Institutes of Health (NIH); National Institute on Deafness and Other...WithdrawnStroke | Dysphagia | Spinocerebellar Ataxia | Dysarthria | Cerebral Stroke
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Impatients N.V. trading as myTomorrowsKamada, Ltd.No longer availableAlpha 1-Antitrypsin Deficiency | Graft Vs Host Disease | Graft-versus-host-disease | Acute-graft-versus-host Disease | Steroid Refractory Acute Graft Versus Host Disease | Alpha-1 Proteinase Inhibitor | Alpha-1 Protease Inhibitor Deficiency | Acute Graft-Versus-Host Reaction Following Bone Marrow...
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Massachusetts General HospitalALS AssociationCompletedParkinson's Disease | Amyotrophic Lateral Sclerosis | Weight Loss | Cachexia | Huntington's Disease | Neurodegenerative DiseaseUnited States
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Fred Hutchinson Cancer CenterNational Cancer Institute (NCI); National Heart, Lung, and Blood Institute...CompletedPreviously Treated Myelodysplastic Syndrome | Fanconi Anemia | de Novo Myelodysplastic Syndrome | Acute Myeloid Leukemia in RemissionUnited States, Brazil
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IpsenCompletedRenal Insufficiency, Chronic | Pituitary Diseases | Dwarfism | Turner SyndromeFrance, Germany, Finland, Spain, Belgium, Czechia, Denmark, Greece, Italy, Romania, Russian Federation, Slovakia, Ukraine, United Kingdom
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University Hospital, AngersUnknownAcute Lymphoblastic Leukemia | Nephroblastoma | Hepatic Veno-Occlusive DiseaseFrance
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Centre Hospitalier Universitaire, AmiensTerminatedStroke | Parkinson Disease | Alzheimer Disease | Traumatic Brain Injury | Huntington Disease | Frontal DementiaFrance
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Physio-AssistUniversity Hospital, Marseille; CEISOTerminatedCystic Fibrosis | Chronic Bronchitis | Chronic Obstructive Airway Disease | Broncho-degenerative Disease | Idiopathic Bronchiectasis | Ciliary DyskinesiaFrance