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Clinical Trials on Autosomal Recessive Disorder (Genetic Carriers of PKU) in United Kingdom
Total 580 results
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National Human Genome Research Institute (NHGRI)CompletedBrain Disorders | Holoprosencephaly | HPE | Developmental Delay DisordersUnited States
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IntraBio IncActive, not recruitingNiemann-Pick Disease, Type CUnited States, Australia, United Kingdom, Germany, Slovakia, Netherlands, Czechia, Switzerland
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Eunice Kennedy Shriver National Institute of Child...CompletedFertility Perservation | FertilityUnited States
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Eunice Kennedy Shriver National Institute of Child...Completed
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The University of Texas Health Science Center,...American Heart AssociationRecruiting
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Marinus PharmaceuticalsEnrolling by invitationTuberous Sclerosis ComplexUnited States, Spain, United Kingdom, China, Italy, France, Israel, Germany, Canada, Australia
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ZevraDenmarkActive, not recruitingNiemann-Pick Disease, Type CUnited States, Spain, United Kingdom, Denmark, France, Germany, Italy, Poland, Switzerland
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Nemours Children's ClinicEli Lilly and CompanyCompletedHypogonadism | Turner Syndrome | Premature Ovarian FailureUnited States
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Children's Hospital Medical Center, CincinnatiCompletedQuality of Life | Cystic FibrosisUnited States
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Boston Children's HospitalNational Institute of Neurological Disorders and Stroke (NINDS); Tuberous Sclerosis...CompletedTuberous Sclerosis ComplexUnited States
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Aucta Pharmaceuticals, IncTerminatedTuberous Sclerosis | Angiofibroma of FaceUnited States, China
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University of Colorado, DenverCompletedTurner Syndrome | Turner Syndrome Mosaicism, 45, X/46, XX or XY | Turner Syndrome Mosaicism 46,X,I(X)(Q10)/45,X | Turner Syndrome Karyotype 46,X With Abnormal Sex Chromosome , Except I(Xq)United States
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University of California, San FranciscoCompletedSickle Cell Disease | Hemoglobinopathies | Fanconi Anemia | Thalassemia | Hematologic Malignancies | Immune Deficiency | Nonmalignant Diseases | Genetic Inborn Errors of MetabolismUnited States
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Children's Hospital Medical Center, CincinnatiCompletedEpilepsy | Tuberous Sclerosis ComplexUnited States
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Jazz PharmaceuticalsGW PharmaceuticalsCompletedSeizures | Tuberous Sclerosis ComplexUnited States
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NYU Langone HealthCompletedEpilepsy | Tuberous Sclerosis Complex | Focal Cortical DysplasiaUnited States
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Hoffmann-La RocheCompletedHemophilia AUnited States, Korea, Republic of, Italy, South Africa, Spain, China, Japan, Poland, Australia, Costa Rica, Germany, Taiwan
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Massachusetts General HospitalEmory University; Stony Brook University; MJHS Institute for Innovation in Palliative... and other collaboratorsActive, not recruitingQuality of Life | Cystic FibrosisUnited States
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Children's Hospital Medical Center, CincinnatiTourette Association of AmericaRecruitingTourette Syndrome | Tourette Syndrome in Children | Tourette Syndrome in Adolescence | Tourette Syndrome, Modifier ofUnited States
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National Institute on Aging (NIA)CompletedMarfan Syndrome | Ehlers-Danlos Syndrome | Stickler SyndromeUnited States
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Johns Hopkins Bloomberg School of Public HealthCompletedObesity | Dental Caries | Dietary Habits | Breast Feeding | Dental Plaque | Water; Lack of | Feeding Behavior | Mother-Child Relations | Infant Obesity | Tooth ErosionUnited States
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National Cancer Institute (NCI)CompletedParents of Children With Cancer | Parents of Children With NF1 | Parents of Children With Neurofibromatosis Type IUnited States, Canada
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Columbia UniversityInternational Agency for Research on CancerRecruitingAcute Lymphoblastic Leukemia | Nutrition Aspect of Cancer | Genetic Predisposition | MicrotiaUnited States, Guatemala, Brazil, Honduras, India, Tanzania
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Novartis PharmaceuticalsCompletedTuberous Sclerosis | Subependymal Giant Cell AstrocytomaUnited States, Belgium, Canada, Germany, Italy, Russian Federation, Netherlands, Poland, Australia, United Kingdom
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Marinus PharmaceuticalsCompletedTuberous SclerosisUnited States
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Nemours Children's ClinicGenentech, Inc.CompletedHypogonadism | Turner Syndrome | Premature Ovarian FailureUnited States, Chile
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Sequenom, Inc.Friends Research Institute, Inc.TerminatedDown Syndrome | Turner Syndrome | Edwards Syndrome | Patau SyndromeUnited States
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Massachusetts General HospitalTerminatedTurner Syndrome | Idiopathic Short StatureUnited States
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Hoffmann-La RocheAssociation Française contre les Myopathies (AFM), ParisCompletedSpinal Muscular Atrophy Type II | Spinal Muscular Atrophy Type III Non AmbulantGermany, Italy, France, Belgium, Poland, Netherlands, United Kingdom
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National Cancer Institute (NCI)CompletedRecurrent Adult Acute Lymphoblastic Leukemia | Acute Leukemias of Ambiguous Lineage | Untreated Adult Acute Lymphoblastic Leukemia | Philadelphia Chromosome Negative Adult Precursor Acute Lymphoblastic LeukemiaUnited States
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KemPharm Denmark A/SCompletedNiemann-Pick Disease, Type CSpain, France, United Kingdom, Switzerland, Denmark, Poland, Italy, Germany
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Dana-Farber Cancer InstituteNovartis PharmaceuticalsCompletedTuberous Sclerosis Complex | TSC1 | TSC2 | MTORUnited States
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National Heart, Lung, and Blood Institute (NHLBI)RecruitingCardiovascular Disease | Arterial Stiffness | Germline Mutation in the NOTCH 3 Gene | Pathogenesis of CADASIL | Clinical Phenotype of CADASILUnited States
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Duke UniversityCompletedQuality of Life | Sickle Cell Disease | Stigma, Social | Disease Self-ManagementUnited States, Jamaica
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Genetic Disease InvestigatorsOptos, PLCCompletedMultiple Sclerosis | Ehlers-Danlos SyndromeUnited States
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University of California, San DiegoBioMarin PharmaceuticalWithdrawnBehavioral Manifestations of Lesch-Nyhan DiseaseUnited States
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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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Novartis PharmaceuticalsActive, not recruitingTuberous Sclerosis ComplexUnited States, Spain, Belgium, Taiwan, Turkey, Australia, Korea, Republic of, Thailand, France, Hungary, United Kingdom, Italy, Japan, Canada, Russian Federation, Poland, Mexico, Colombia
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Georgia State UniversityUnknownQuality of Life | Depressive Symptoms | Sickle Cell Disease | Pediatric Cancer | Coping SkillsUnited States
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University Hospitals Cleveland Medical CenterKulas FoundationCompletedChronic Pain | Sickle Cell DiseaseUnited States
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Eunice Kennedy Shriver National Institute of Child...CompletedUrogenital Abnormalities | Mental Retardation | Wilm's Tumor | WAGR Syndrome | AniridiaUnited States
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Marinus PharmaceuticalsActive, not recruitingTuberous Sclerosis ComplexUnited States, Spain, United Kingdom, Israel, Italy, Germany, France, Canada
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Brigham and Women's HospitalMassachusetts General HospitalRecruitingTuberous Sclerosis Complex | LymphangioleiomyomatosisUnited States
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National Heart, Lung, and Blood Institute (NHLBI)CompletedTuberous Sclerosis | Lymphangioleiomyomatosis | LymphangioleiomyomasUnited States
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Novartis PharmaceuticalsCompletedLymphangioleiomyomatosis (LAM) | Tuberous Sclerosis Complex (TSC)United States, United Kingdom, Germany, Italy, Russian Federation, Netherlands, Japan, Canada, Poland, France, Spain
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William Gahl, M.D.National Human Genome Research Institute (NHGRI)CompletedPulmonary Fibrosis | Inborn Errors of Metabolism | Albinism | Oculocutaneous Albinism | Platelet Storage Pool DeficiencyUnited States
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Children's Hospital Medical Center, CincinnatiNovartisCompletedEpilepsy | Tuberous Sclerosis ComplexUnited States
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University of California, San FranciscoTerminatedNonfluent Aphasia, Progressive | Primary Tauopathies | Corticobasal Degeneration Syndrome | Frontotemporal Lobar Degeneration With Tau Inclusions | MAPT Mutation Carriers, Symptomatic | Traumatic Encephalopathy SyndromeUnited States
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Roopa Kanakatti Shankar, MBBS, MSRecruiting
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Baylor Research InstituteShireUnknownQuality of Life | Renal Insufficiency | Cardiac EventUnited States