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Clinical Trials on Autosomal Aneuploidy in United Kingdom
Total 203 results
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Alkeus Pharmaceuticals, Inc.RecruitingStargardt Disease | Stargardt Macular Degeneration | Stargardt Macular Dystrophy | Autosomal Recessive Stargardt Disease 1 (ABCA4-related)United States
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Natera, Inc.CompletedConcurrent Single Gene and 24 Chromosome Aneuploidy Preimplantation Genetic Diagnosis (PGD) (IVF008)Any Single Gene Disorder (Cystic Fibrosis, Tay-Sachs)United States
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Krystal Biotech, Inc.Active, not recruitingTGM-1 Related Autosomal Recessive Congenital IchthyosisUnited States
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Children's Hospital of PhiladelphiaEunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaboratorsCompleted
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Juan PascualNational Institute of Neurological Disorders and Stroke (NINDS)CompletedGlucose Metabolism Disorders | Epilepsy | Glucose Transporter Type 1 Deficiency Syndrome | Glut1 Deficiency Syndrome 1, Autosomal Recessive | Glucose Transporter Protein Type 1 Deficiency Syndrome | Glucose Transport Defect | GLUT1DS1United States
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Icahn School of Medicine at Mount SinaiNational Institute of Neurological Disorders and Stroke (NINDS)Enrolling by invitationAutism Spectrum Disorder (ASD) | Phelan-McDermid SyndromeUnited States
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Children's Healthcare of AtlantaTerminated
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University of Texas Southwestern Medical CenterNational Institute of Neurological Disorders and Stroke (NINDS)Active, not recruitingGlucose Metabolism Disorders | Epilepsy | Glucose Transporter Type 1 Deficiency Syndrome | Glut1 Deficiency Syndrome 1, Autosomal Recessive | Glucose Transporter Protein Type 1 Deficiency Syndrome | Glucose Transport Defect | GLUT1DS1United States
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Boston Children's HospitalPhelan-McDermid Syndrome FoundationCompletedIntellectual Disability | Autism Spectrum Disorder | Phelan-McDermid SyndromeUnited States
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Sequenom, Inc.CompletedDown Syndrome | Aneuploidy | Noninvasive Prenatal ScreeningUnited States
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Women and Infants Hospital of Rhode IslandSequenom, Inc.CompletedDown Syndrome | Trisomy 21United States, Canada, Israel, Hungary, Ireland, Argentina, Australia, Czech Republic, Italy, Spain
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Children's Mercy Hospital Kansas CityTerminatedHypothyroidism | Trisomy 21United States
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Boston Children's HospitalEunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaboratorsRecruitingIntellectual Disability | Autism Spectrum Disorder | Phelan-McDermid SyndromeUnited States
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Roche Sequencing SolutionsPerinatal Quality Foundation: Nuchal Translucency Quality ReviewCompletedTrisomy 21United States, Belgium, Netherlands, Sweden, Italy, Canada
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National Institute of Allergy and Infectious Diseases...Enrolling by invitationChronic Granulomatous Disease | p47 | Autosomal RecessiveUnited States
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Inozyme PharmaRecruitingPseudoxanthoma Elasticum | Generalized Arterial Calcification of Infancy | Autosomal Recessive Hypophosphatemic Rickets | Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency | ATP-Binding Cassette Subfamily C Member 6 DeficiencyUnited States, United Kingdom, Spain
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Vanderbilt University Medical CenterVanderbilt Kennedy CenterRecruitingAlzheimer Disease | Down Syndrome | Down Syndrome, Partial Trisomy 21United States
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Northwestern UniversityIcahn School of Medicine at Mount SinaiCompletedNetherton Syndrome | Ichthyosis | Lamellar Ichthyosis | Autosomal Recessive Congenital Ichthyosis | Congenital Ichthyosiform Erythroderma | Epidermolytic IchthyosisUnited States
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Children's Healthcare of AtlantaCompleted
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Cindy CisnerosCompletedDown Syndrome | Aneuploidy | Trisomy 21 | Trisomy 18 | Trisomy 13United States
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University of Texas Southwestern Medical CenterRecruitingGlucose Metabolism Disorders | Epilepsy | Glucose Transporter Type 1 Deficiency Syndrome | Glut1 Deficiency Syndrome 1 | Glut1 Deficiency Syndrome 1, Autosomal Recessive | Glucose Transporter Protein Type 1 Deficiency Syndrome | Glucose Transport DefectUnited States
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Sequenom, Inc.ObstetrixCompleted
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Women and Infants Hospital of Rhode IslandPerkinElmer, Inc.CompletedDown Syndrome | Trisomy 18 | Trisomy 13United States, Canada, Italy
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National Human Genome Research Institute (NHGRI)CompletedMental Retardation | Sleep Disorders, Circadian Rhythm | Developmental Delay Disorders | Chromosome Deletion | Self Injurious BehaviorUnited States
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Women and Infants Hospital of Rhode IslandNatera, Inc.CompletedTrisomy 21 | Trisomy 18 | Trisomy 13 | Monosomy XUnited States
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Sequenom, Inc.PRA Health SciencesCompletedPregnancy | Down Syndrome | Aneuploidy | Edwards SyndromeUnited States, France
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NYU Langone HealthCompletedAnxiety Disorders | Familial Dysautonomia | Dysthymia | Paroxysmal Hypertension | Autosomal Recessive DiseaseUnited States
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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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Natera, Inc.CompletedTrisomy 21 | Trisomy 18 | Trisomy 13 | Vanishing TwinUnited States
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Inozyme PharmaEngage Health Inc.; GACI GlobalCompletedGeneralized Arterial Calcification in Infancy | Autosomal Recessive Hypophosphatemic Rickets Type 2United States
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Children's Hospital of Orange CountyActive, not recruitingNeuronal Ceroid-Lipofuscinoses | Neuronal Ceroid Lipofuscinosis CLN2 | Spinocerebellar Ataxia, Autosomal Recessive 7United States
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Fred Hutchinson Cancer CenterNational Cancer Institute (NCI); National Heart, Lung, and Blood Institute...CompletedSevere Combined Immunodeficiency | Adenosine Deaminase Deficiency | Immune System Disorder | Autosomal Recessive Disorder | Purine-Nucleoside Phosphorylase Deficiency | Severe Combined Immunodeficiency With Absence of T and B Cells | X-Linked Severe Combined ImmunodeficiencyUnited States
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Natera, Inc.Montefiore Medical Center; Tufts Medical Center; MOUNT SINAI HOSPITAL; Long Island...CompletedTrisomy 21 | Trisomy 18 | Trisomy 13 | Sex Chromosome AbnormalitiesUnited States
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Natera, Inc.CompletedTrisomy 21 | Trisomy 18 | Trisomy 13 | Sex Chromosome Abnormalities | Microdeletion SyndromesUnited States
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Natera, Inc.Children's Hospital of Philadelphia; Montefiore Medical Center; University of... and other collaboratorsCompletedPrader-Willi Syndrome | DiGeorge Syndrome | 22q11 Deletion Syndrome | Angelman Syndrome | Trisomy 21 | Trisomy 18 | Trisomy 13 | Monosomy X | Sex Chromosome Abnormalities | 1p36 Deletion Syndrome | Cri-du-Chat SyndromeUnited States, Australia, Ireland, Spain, Sweden, United Kingdom
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University of Wisconsin, MadisonNational Institute on Aging (NIA)Recruiting
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University of Colorado, DenverRecruitingKlinefelter Syndrome | Trisomy X | XYY Syndrome | XXXY and XXXXY Syndrome | Xxyy Syndrome | Xyyy Syndrome | Xxxx Syndrome | Xxxxx Syndrome | Xxxyy Syndrome | Xxyyy Syndrome | Xyyyy Syndrome | Male With Sex Chromosome MosaicismUnited States
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University of MichiganNational Heart, Lung, and Blood Institute (NHLBI); National Institutes of Health...RecruitingObstructive Sleep Apnea | Down Syndrome | Tolerance | Trisomy 21 | Hypertonia, Muscle | Nasal Airway ObstructionUnited States
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Cadent TherapeuticsWithdrawnSpinocerebellar Ataxia Type 3 | Spinocerebellar Ataxias | Spinocerebellar Ataxia Type 1 | Spinocerebellar Ataxia Type 2 | Spinocerebellar Ataxia Type 6 | Spinocerebellar Ataxia Type 10 | Spinocerebellar Ataxia Type 7 | Spinocerebellar Ataxia Type 8 | Spinocerebellar Ataxia Type 17 | ARCA1 - Autosomal Recessive...United States
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University of California, San FranciscoJohns Hopkins All Children's HospitalCompletedAcute Myeloid Leukemia | Myelodysplastic Syndromes | Juvenile Myelomonocytic Leukemia | Acute Lymphoblastic Leukemia | Acute Leukemia | Chronic Myelogenous Leukemia | Biphenotypic Leukemia | Pre-leukemic Syndromes | Monosomy 7 | Bone Marrow Clonal MalformationsUnited States
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Natera, Inc.Houston Perinatal Associates; Lyndhurst Clinical Research; Dr. Carpenter Maternal... and other collaboratorsCompletedTrisomy 21 | Trisomy 18 | Trisomy 13 | Sex Chromosome AbnormalitiesUnited States, India, Malaysia
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Natera, Inc.Eunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaboratorsTerminatedAneuploidy | Trisomy 21 | Trisomy 18 | Trisomy 13United States, Ireland, Canada, Italy, Korea, Republic of, Spain
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Rush University Medical CenterEmory UniversityEnrolling by invitationTuberous Sclerosis | Fragile X Syndrome | Rett Syndrome | Hamartoma Syndrome, Multiple | Angelman Syndrome | Creatine Deficiency, X-linked | Telomeric 22Q13 Monosomy Syndrome | Chromosome 15Q, Partial DeletionUnited States
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Natera, Inc.CompletedTrisomy 21 | Trisomy 18 | Trisomy 13 | Sex Chromosome Abnormalities | Microdeletion SyndromesUnited States, Spain, Taiwan
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Verinata Health, Inc.CompletedPregnancy | Down Syndrome | Edwards Syndrome | Patau Syndrome | Turners SyndromeUnited States
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National Human Genome Research Institute (NHGRI)CompletedGeneralized Arterial Calcification of Infancy | Autosomal Recessive Hypophosphatemic Rickets Type2United States
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Sequenom, Inc.CompletedTurner Syndrome | Down Syndrome (Trisomy 21) | Patau Syndrome (Trisomy 13) | Edwards Syndrome (Trisomy 18)United States
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Lenetix Medical Screening LaboratoryUnknownDown Syndrome (Trisomy 21) | Edward's Syndrome (Trisomy 18) | Patau Syndrome (Trisomy 13) | Klinefelter Syndrome (47, XXY) | and Other Chromosome | Abnormalities.United States
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Progenity, Inc.CompletedDown Syndrome | Aneuploidy | DiGeorge Syndrome | Turner Syndrome | Klinefelter Syndrome | Chromosome Deletion | Edwards Syndrome | Patau SyndromeUnited States
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Masonic Cancer Center, University of MinnesotaRecruitingAcute Myeloid Leukemia | Juvenile Myelomonocytic Leukemia | Acute Lymphoblastic Leukemia | AML | Acute Leukemia | Neurofibromatosis 1 | Hematologic Malignancy | Myelodysplasia | Minimal Residual Disease | Chromosome Abnormality | Monosomy 7 | Remission | Somatic Mutation | Cytogenetic Abnormality | TP53 | Fetal Hemoglobin | Intrachromosomal Amplification of Chromosome... and other conditionsUnited States