Search clinical trials for: Genetic Mutation Carrier
Total 21619 results
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Cure CMDRecruitingEmery-Dreifuss Muscular Dystrophy | Congenital Myasthenic Syndrome | Limb-Girdle Muscular Dystrophy | Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency | Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy) and other conditionsUnited States
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Simons SearchlightBoston Children's Hospital; Geisinger Clinic; Simons FoundationRecruitingSMARCA4 Gene Mutation | DDX3X | 16P11.2 Deletion Syndrome | 16p11.2 Duplications | 1Q21.1 Deletion | 1Q21.1 Microduplication Syndrome (Disorder) | ACTL6B | ADNP | AHDC1 | ANK2 | ANKRD11 | ARID1B | ASH1L | BCL11A | CHAMP1 | CHD2 | CHD8 | CSNK2A1 | CTBP1 | CTNNB1 Gene Mutation | CUL3 | DNMT3A | DSCAM | DYRK1A | FOXP1 | GRIN2A | GRIN2B | HIVEP2-Related Intellectual... and other conditionsUnited States
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University of North Carolina, Chapel HillNational Heart, Lung, and Blood Institute (NHLBI)Recruiting
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University of UtahNational Heart, Lung, and Blood Institute (NHLBI)Recruiting
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Assaf-Harofeh Medical CenterRambam Health Care Campus; Rabin Medical Center; Tel-Aviv Sourasky Medical Center and other collaboratorsRecruiting
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National Human Genome Research Institute (NHGRI)Recruiting
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University of PittsburghNational Institutes of Health (NIH)Recruiting
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National Institute of Allergy and Infectious Diseases...Albert Einstein College of MedicineRecruitingInfections | Immune System Diseases | Pneumonia | Job Syndrome | STAT3 Transcription FactorUnited States
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National Institute of Allergy and Infectious Diseases...Recruiting
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John HaysBristol-Myers SquibbTerminatedLynch Syndrome | Colon Adenoma | Colon Carcinoma | MLH1 Gene Mutation | MSH2 Gene MutationUnited States
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UNICANCERInstitut National de la Santé Et de la Recherche Médicale, France; Gustave... and other collaboratorsActive, not recruitingMutation | Hereditary Breast and Ovarian CancerFrance
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UNICANCERCompletedLetrozole in Preventing Breast Cancer in Postmenopausal Women With a BRCA1 or BRCA2 Mutation (LIBER)Breast Cancer | Hereditary Breast/Ovarian Cancer (brca1, brca2) | brca1 Mutation Carrier | brca2 Mutation CarrierFrance
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Wake Forest University Health SciencesNational Cancer Institute (NCI)TerminatedRecurrent Non-Small Cell Lung Carcinoma | Stage IV Non-Small Cell Lung Cancer | EGFR Activating MutationUnited States
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National Cancer Institute (NCI)Children's Oncology GroupActive, not recruitingRefractory Malignant Solid Neoplasm | Recurrent Ependymoma | Recurrent Ewing Sarcoma | Recurrent Hepatoblastoma | Recurrent Langerhans Cell Histiocytosis | Recurrent Malignant Germ Cell Tumor | Recurrent Malignant Glioma | Recurrent Malignant Solid Neoplasm | Recurrent Medulloblastoma | Recurrent Neuroblastoma and other conditionsUnited States, Puerto Rico, Australia
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PfizerNo longer available
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National Institute on Deafness and Other Communication...CompletedSensorineural Hearing Loss | Vestibular Disease | Hearing DisorderUnited States, Nigeria
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PTC TherapeuticsEnrolling by invitationDuchenne Muscular DystrophyUnited States, Canada
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MeiraGTx UK II LtdJanssen, LPCompletedRetinitis PigmentosaUnited States, United Kingdom, Canada
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AstraZenecaActive, not recruitingBreast | Prostate | Ovarian | Pancreatic | Advanced TumoursSweden, Spain, Israel, Australia, Germany
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PTC TherapeuticsCooperative International Neuromuscular Research Group; The John Walton Muscular...Active, not recruitingMuscular Dystrophy, DuchenneGermany, France, United Kingdom, Brazil, Italy, Austria, Sweden, Czechia, Greece, Hungary, Israel, Latvia, Norway, Portugal, Romania, Slovenia
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PfizerActive, not recruitingSickle Cell Disease | Vaso-occlusive Pain Episode in Sickle Cell Disease | Vaso-occlusive CrisisUnited States, Oman, Colombia, Brazil, Lebanon, Nigeria, Germany, Italy, Kenya, Saudi Arabia, Tanzania, Turkey
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Abramson Cancer Center at Penn MedicineEnrolling by invitationOvarian Cancer | Genetic Predisposition to Disease | Breast Cancer Female | Hereditary Diseases | Gene Mutation-Related Cancer | Hereditary Breast and Ovarian Cancer | Hereditary Cancer SyndromeUnited States
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National Heart, Lung, and Blood Institute (NHLBI)CompletedHypertension | Cardiovascular Disease | Williams Syndrome | Multisystem Developmental Disorder | Elastin Gene DeletionUnited States
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Vertex Pharmaceuticals IncorporatedCompletedCystic FibrosisUnited States, United Kingdom, Belgium, Netherlands, France, Denmark, Israel, New Zealand, Australia, Ireland, Sweden, Canada, Germany, Poland, Switzerland, Italy, Austria, Hungary, Greece, Norway
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Washington University School of MedicineHoffmann-La Roche; Genentech, Inc.; National Institute on Aging (NIA); Alzheimer...SuspendedDementia | Alzheimers Disease | Alzheimers Disease, FamilialUnited States, Canada, Italy, France, Spain, Ireland, Argentina, Australia, Colombia, Germany, Mexico, Netherlands, Puerto Rico, United Kingdom
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National Institute on Deafness and Other Communication...Enrolling by invitation
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Vertex Pharmaceuticals IncorporatedCompletedCystic FibrosisUnited States, Spain, United Kingdom, New Zealand, Israel, Australia, Ireland, Germany, Sweden, Czechia, Portugal, Hungary
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M.D. Anderson Cancer CenterNational Cancer Institute (NCI)Active, not recruitingHereditary Breast and Ovarian Cancer Syndrome | Premenopausal | Deleterious BARD1 Gene Mutation | Deleterious BRCA1 Gene Mutation | Deleterious BRCA2 Gene Mutation | Deleterious BRIP1 Gene Mutation | Deleterious EPCAM Gene Mutation | Deleterious MLH1 Gene Mutation | Deleterious MSH2 Gene Mutation | Deleterious... and other conditionsUnited States
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University of PennsylvaniaMemorial Sloan Kettering Cancer Center; Susan G. Komen Breast Cancer FoundationEnrolling by invitationOvarian Cancer | BRCA MutationUnited States
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Artios Pharma LtdActive, not recruitingBreast Cancer | Metastatic Cancer | Advanced CancerUnited States, United Kingdom
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AstraZenecaMerck Sharp & Dohme LLC; GOG Foundation; Myriad Genetic Laboratories, Inc.Active, not recruitingAdvanced Ovarian Cancer | Newly Diagnosed | FIGO Stage III-IV | Partial Response | Complete Response | BRCA Mutation | First Line Platinum ChemotherapyKorea, Republic of, France, Italy, United States, Israel, Canada, China, Brazil, United Kingdom, Poland, Australia, Japan, Netherlands, Russian Federation, Spain
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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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National Eye Institute (NEI)Active, not recruitingRetinal Degeneration | ABCA4-Related RetinopathiesUnited States
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AmgenCompletedSevere Familial HypercholesterolemiaItaly, Czechia, United States, Israel, New Zealand, South Africa, France, Spain, Australia, Belgium, Canada, Netherlands, Hong Kong, Brazil, United Kingdom, Greece, Japan, Lebanon
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Khondrion BVJulius Clinical; ProPharma Group; Europees Fonds voor Regionale Ontwikkeling... and other collaboratorsActive, not recruitingMitochondrial Diseases | MELAS | Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation | Subacute Necrotizing EncephalomyelopathyNetherlands
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National Heart, Lung, and Blood Institute (NHLBI)CompletedCardiovascular Disease | Arterial Stiffness | Germline Mutation in the NOTCH 3 Gene | Pathogenesis of CADASIL | Clinical Phenotype of CADASILUnited States
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Children's Hospital of PhiladelphiaIllumina, Inc.Active, not recruitingMucopolysaccharidoses | Leukodystrophy | Adrenoleukodystrophy | Adrenomyeloneuropathy | X-linked Adrenoleukodystrophy | Gangliosidoses | Metachromatic Leukodystrophy | Krabbe Disease | Refsum Disease | Cadasil | Sjogren-Larsson Syndrome | Allan-Herndon-Dudley Syndrome | White Matter Disease | GM2 Gangliosidosis | Zellweger... and other conditionsUnited States
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Washington University School of MedicineHoffmann-La Roche; National Institute on Aging (NIA); Alzheimer's AssociationTerminatedDementia | Alzheimers Disease | Alzheimers Disease, FamilialUnited States, France, Spain, Ireland, Canada, Australia, Puerto Rico, United Kingdom
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National Cancer Institute (NCI)Active, not recruitingRecurrent Childhood Medulloblastoma | Recurrent Childhood Ependymoma | Advanced Malignant Solid Neoplasm | Refractory Malignant Solid Neoplasm | Recurrent Hepatoblastoma | Recurrent Langerhans Cell Histiocytosis | Recurrent Malignant Glioma | Recurrent Malignant Solid Neoplasm | Recurrent Neuroblastoma and other conditionsUnited States, Puerto Rico
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National Cancer Institute (NCI)Children's Oncology GroupActive, not recruitingRecurrent Hodgkin Lymphoma | Refractory Hodgkin Lymphoma | Rhabdoid Tumor | Advanced Malignant Solid Neoplasm | Refractory Malignant Solid Neoplasm | Ann Arbor Stage III Hodgkin Lymphoma | Ann Arbor Stage IV Hodgkin Lymphoma | Recurrent Ependymoma | Recurrent Ewing Sarcoma | Recurrent Hepatoblastoma | Recurrent... and other conditionsUnited States, Puerto Rico
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National Cancer Institute (NCI)Active, not recruitingAdvanced Malignant Solid Neoplasm | Refractory Malignant Solid Neoplasm | Recurrent Ewing Sarcoma | Recurrent Hepatoblastoma | Recurrent Histiocytic and Dendritic Cell Neoplasm | Recurrent Langerhans Cell Histiocytosis | Recurrent Malignant Germ Cell Tumor | Recurrent Malignant Solid Neoplasm | Recurrent... and other conditionsUnited States, Puerto Rico
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National Cancer Institute (NCI)Active, not recruitingMalignant Glioma | Rhabdoid Tumor | Advanced Malignant Solid Neoplasm | Refractory Malignant Solid Neoplasm | Recurrent Ependymoma | Recurrent Ewing Sarcoma | Recurrent Hepatoblastoma | Recurrent Langerhans Cell Histiocytosis | Recurrent Malignant Germ Cell Tumor | Recurrent Malignant Solid Neoplasm | Recurrent... and other conditionsUnited States, Puerto Rico
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Beacon TherapeuticsActive, not recruitingX-Linked Retinitis PigmentosaUnited States
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M.D. Anderson Cancer CenterNational Cancer Institute (NCI)Active, not recruitingRecurrent Fallopian Tube Carcinoma | Recurrent Ovarian Carcinoma | Recurrent Primary Peritoneal Carcinoma | Recurrent Uterine Corpus Carcinoma | Endometrial Adenocarcinoma | Recurrent Breast Carcinoma | Estrogen Receptor Negative | HER2/Neu Negative | Progesterone Receptor Negative | Triple-Negative Breast... and other conditionsUnited States
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National Cancer Institute (NCI)Active, not recruitingSoft Tissue Sarcoma | Osteosarcoma | Ewing Sarcoma | Malignant Glioma | Ependymoma | Rhabdoid Tumor | Advanced Malignant Solid Neoplasm | Refractory Malignant Solid Neoplasm | Rhabdomyosarcoma | Recurrent Malignant Solid Neoplasm | Recurrent Neuroblastoma | Refractory Neuroblastoma | Refractory Non-Hodgkin Lymphoma and other conditionsUnited States, Puerto Rico
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M.D. Anderson Cancer CenterActive, not recruiting
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Jaeb Center for Health ResearchFoundation Fighting BlindnessActive, not recruitingEye Diseases | Retinitis PigmentosaUnited States, Israel, Finland, Canada, France, Germany, Netherlands
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Novartis PharmaceuticalsActive, not recruitingSickle Cell Disease (SCD)United States, United Kingdom, Germany, Spain, Greece, Italy, Brazil, Lebanon, Turkey, Belgium, France, Jordan, India, Finland, Canada, Colombia, Netherlands, Oman, South Africa, Panama, Ghana
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University of Texas Southwestern Medical CenterCompletedUrolithiasis | Hypercalciuria
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Fox Chase Cancer CenterNational Cancer Institute (NCI)CompletedMucinous Adenocarcinoma of the Rectum | Signet Ring Adenocarcinoma of the Rectum | Stage IIA Rectal Cancer | Stage IIB Rectal Cancer | Stage IIC Rectal Cancer | Stage IIIA Rectal Cancer | Stage IIIB Rectal Cancer | Stage IIIC Rectal Cancer | Recurrent Rectal CancerUnited States