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Clinical Trials on Autosomal aneuploidi in United Kingdom
I alt 203 resultater
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Natera, Inc.AfsluttetEnhver enkelt gen lidelse (cystisk fibrose, Tay-Sachs)Forenede Stater
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Juan PascualNational Institute of Neurological Disorders and Stroke (NINDS)AfsluttetGlukosemetabolismeforstyrrelser | Epilepsi | Glucose Transporter Type 1 mangelsyndrom | Glut1-mangelsyndrom 1, autosomalt recessivt | Glucose Transporter Protein Type 1 mangelsyndrom | Glukosetransportdefekt | GLUT1DS1Forenede Stater
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Icahn School of Medicine at Mount SinaiNational Institute of Neurological Disorders and Stroke (NINDS)Tilmelding efter invitationAutismespektrumforstyrrelse (ASD) | Phelan-McDermid syndromForenede Stater
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Children's Hospital of PhiladelphiaEunice Kennedy Shriver National Institute of Child Health and Human Development... og andre samarbejdspartnereAfsluttet
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Sequenom, Inc.AfsluttetDowns syndrom | Aneuploidi | Ikke-invasiv prænatal screeningForenede Stater
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University of Texas Southwestern Medical CenterNational Institute of Neurological Disorders and Stroke (NINDS)Aktiv, ikke rekrutterendeGlukosemetabolismeforstyrrelser | Epilepsi | Glucose Transporter Type 1 mangelsyndrom | Glut1-mangelsyndrom 1, autosomalt recessivt | Glucose Transporter Protein Type 1 mangelsyndrom | Glukosetransportdefekt | GLUT1DS1Forenede Stater
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Women and Infants Hospital of Rhode IslandSequenom, Inc.AfsluttetDowns syndrom | Trisomi 21Forenede Stater, Canada, Israel, Ungarn, Irland, Argentina, Australien, Tjekkiet, Italien, Spanien
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Roche Sequencing SolutionsPerinatal Quality Foundation: Nuchal Translucency Quality ReviewAfsluttetTrisomi 21Forenede Stater, Belgien, Holland, Sverige, Italien, Canada
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Boston Children's HospitalPhelan-McDermid Syndrome FoundationAfsluttetIntellektuel handicap | Autismespektrumforstyrrelse | Phelan-McDermid syndromForenede Stater
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Children's Healthcare of AtlantaAfsluttet
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Boston Children's HospitalEunice Kennedy Shriver National Institute of Child Health and Human Development... og andre samarbejdspartnereRekrutteringIntellektuel handicap | Autismespektrumforstyrrelse | Phelan-McDermid syndromForenede Stater
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Children's Mercy Hospital Kansas CityAfsluttetHypothyroidisme | Trisomi 21Forenede Stater
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National Institute of Allergy and Infectious Diseases...Tilmelding efter invitationKronisk granulomatøs sygdom | s47 | Autosomal recessivForenede Stater
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Northwestern UniversityIcahn School of Medicine at Mount SinaiAfsluttetNetherton syndrom | Iktyose | Lamellær iktyose | Autosomal recessiv medfødt iktyose | Medfødt Ichthyosiform Erythroderma | Epidermolytisk iktyoseForenede Stater
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Inozyme PharmaAktiv, ikke rekrutterendeGeneraliseret arteriel forkalkning af spædbørn | Autosomal recessiv hypophosphatæmisk rakitt | Ectonucleotid Pyrophosphatase/phosphodiesterase1 mangelForenede Stater, Canada, Tyskland, Frankrig, Det Forenede Kongerige
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Vanderbilt University Medical CenterVanderbilt Kennedy CenterRekrutteringAlzheimers sygdom | Downs syndrom | Downs syndrom, delvis trisomi 21Forenede Stater
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Sequenom, Inc.ObstetrixAfsluttet
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Cindy CisnerosAfsluttetDowns syndrom | Aneuploidi | Trisomi 21 | Trisomi 18 | Trisomi 13Forenede Stater
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Women and Infants Hospital of Rhode IslandPerkinElmer, Inc.AfsluttetDowns syndrom | Trisomi 18 | Trisomi 13Forenede Stater, Canada, Italien
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Children's Healthcare of AtlantaAfsluttet
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University of Texas Southwestern Medical CenterRekrutteringGlukosemetabolismeforstyrrelser | Epilepsi | Glucose Transporter Type 1 mangelsyndrom | Glut1-mangelsyndrom 1 | Glut1-mangelsyndrom 1, autosomalt recessivt | Glucose Transporter Protein Type 1 mangelsyndrom | GlukosetransportdefektForenede Stater
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Sequenom, Inc.PRA Health SciencesAfsluttetGraviditet | Downs syndrom | Aneuploidi | Edwards syndromForenede Stater, Frankrig
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Inozyme PharmaRekrutteringENERGY 3-undersøgelsen: Evaluering af effektivitet og sikkerhed af INZ-701 hos børn med ENPP1-mangelGeneraliseret arteriel forkalkning af spædbørn | Autosomal recessiv hypophosphatæmisk rakitt | Ectonucleotid Pyrophosphatase/Phosphodiesterase1 mangelForenede Stater, Kalkun, Det Forenede Kongerige, Spanien, Canada, Frankrig, Forenede Arabiske Emirater
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National Human Genome Research Institute (NHGRI)AfsluttetMental retardering | Søvnforstyrrelser, døgnrytme | Forsinkede udviklingsforstyrrelser | Kromosom sletning | Selvskadende adfærdForenede Stater
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Natera, Inc.AfsluttetTrisomi 21 | Trisomi 18 | Trisomi 13 | Forsvindende tvillingForenede Stater
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NYU Langone HealthAfsluttetAngstlidelser | Familiær dysautonomi | Dystymi | Paroxysmal hypertension | Autosomal recessiv sygdomForenede Stater
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Women and Infants Hospital of Rhode IslandNatera, Inc.AfsluttetTrisomi 21 | Trisomi 18 | Trisomi 13 | Monosomi XForenede Stater
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Lisa Guay WoodfordNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)RekrutteringNephronophthisis | Joubert syndrom | Bardet Biedl syndrom | Autosomal recessiv polycystisk nyresygdom | Medfødt leverfibrose | Hepato/nyre fibrocystisk sygdom | Meckel-Gruber syndrom | Caroli syndrom | Oro-ansigts-digitalt syndrom type I | Glomerulocystisk nyresygdomForenede Stater
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Inozyme PharmaEngage Health Inc.; GACI GlobalAfsluttetGeneraliseret arteriel forkalkning i spædbørn | Autosomal recessiv hypofosfatæmisk rakitt type 2Forenede Stater
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University of Wisconsin, MadisonNational Institute on Aging (NIA)Rekruttering
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Children's Hospital of Orange CountyAktiv, ikke rekrutterendeNeuronale ceroid-lipofuscinoser | Neuronal Ceroid Lipofuscinose CLN2 | Spinocerebellar ataksi, autosomal recessiv 7Forenede Stater
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Fred Hutchinson Cancer CenterNational Cancer Institute (NCI); National Heart, Lung, and Blood Institute...AfsluttetAlvorlig kombineret immundefekt | Adenosindeaminase mangel | Immunsystem lidelse | Autosomal recessiv lidelse | Purin-nukleosid phosphorylase mangel | Alvorlig kombineret immundefekt med fravær af T- og B-celler | X-forbundet svær kombineret immundefektForenede Stater
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Natera, Inc.Montefiore Medical Center; Tufts Medical Center; MOUNT SINAI HOSPITAL; Long...AfsluttetTrisomi 21 | Trisomi 18 | Trisomi 13 | KønskromosomafvigelserForenede Stater
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Inozyme PharmaRekrutteringPseudoxanthoma Elasticum | Generaliseret arteriel forkalkning af spædbørn | Autosomal recessiv hypophosphatæmisk rakitt | Ectonucleotid Pyrophosphatase/phosphodiesterase1 mangel | ATP-bindende kassette Underfamilie C Medlem 6 MangelForenede Stater, Det Forenede Kongerige, Spanien
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Natera, Inc.AfsluttetTrisomi 21 | Trisomi 18 | Trisomi 13 | Kønskromosomafvigelser | MikrodeletionssyndromerForenede Stater
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Cadent TherapeuticsTrukket tilbageSpinocerebellar ataksi type 3 | Spinocerebellære ataksier | Spinocerebellar ataksi type 1 | Spinocerebellar ataksi type 2 | Spinocerebellar ataksi type 6 | Spinocerebellar ataksi type 10 | Spinocerebellar ataksi type 7 | Spinocerebellar ataksi type 8 | Spinocerebellar ataksi type 17 | ARCA1 - Autosomal recessiv...Forenede Stater
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Natera, Inc.Houston Perinatal Associates; Lyndhurst Clinical Research; Dr. Carpenter... og andre samarbejdspartnereAfsluttetTrisomi 21 | Trisomi 18 | Trisomi 13 | KønskromosomafvigelserForenede Stater, Indien, Malaysia
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Natera, Inc.Eunice Kennedy Shriver National Institute of Child Health and Human Development... og andre samarbejdspartnereAfsluttetAneuploidi | Trisomi 21 | Trisomi 18 | Trisomi 13Forenede Stater, Irland, Canada, Italien, Korea, Republikken, Spanien
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University of MichiganNational Heart, Lung, and Blood Institute (NHLBI); National Institutes...RekrutteringSelvunderstøttende Nasopharyngeal Airway (ssNPA) Behandling af øvre luftvejsobstruktion ved hypotoniObstruktiv søvnapnø | Downs syndrom | Tolerance | Trisomi 21 | Hypertoni, muskel | Nasal luftvejsobstruktionForenede Stater
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University of Colorado, DenverRekrutteringKlinefelters syndrom | Trisomi X | XYY syndrom | XXXY og XXXXY syndrom | Xxyy syndrom | Xyyy syndrom | Xxxx syndrom | Xxxxx syndrom | Xxxyy syndrom | Xxyyy syndrom | Xyyyy syndrom | Mand med sexkromosommosaicismeForenede Stater
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Natera, Inc.AfsluttetTrisomi 21 | Trisomi 18 | Trisomi 13 | Kønskromosomafvigelser | MikrodeletionssyndromerForenede Stater, Spanien, Taiwan
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University of California, San FranciscoJohns Hopkins All Children's HospitalAfsluttetAkut myeloid leukæmi | Myelodysplastiske syndromer | Juvenil myelomonocytisk leukæmi | Akut lymfatisk leukæmi | Akut leukæmi | Kronisk myelogen leukæmi | Bifænotypisk leukæmi | Præleukæmiske syndromer | Monosomi 7 | Knoglemarv klonale misdannelserForenede Stater
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Natera, Inc.Children's Hospital of Philadelphia; Montefiore Medical Center; University... og andre samarbejdspartnereAfsluttetPrader-Willi syndrom | DiGeorges syndrom | 22q11 deletionssyndrom | Angelman syndrom | Trisomi 21 | Trisomi 18 | Trisomi 13 | Monosomi X | Kønskromosomafvigelser | 1p36 deletionssyndrom | Cri-du-Chat syndromForenede Stater, Australien, Irland, Spanien, Sverige, Det Forenede Kongerige
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Verinata Health, Inc.AfsluttetGraviditet | Downs syndrom | Edwards syndrom | Patau syndrom | Turners syndromForenede Stater
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Rush University Medical CenterEmory UniversityTilmelding efter invitationTuberøs sklerose | Fragilt X syndrom | Rett syndrom | Hamartoma syndrom, multipel | Angelman syndrom | Kreatinmangel, X-bundet | Telomerisk 22Q13 Monosomy Syndrome | Kromosom 15Q, delvis sletningForenede Stater
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National Human Genome Research Institute (NHGRI)AfsluttetGeneraliseret arteriel forkalkning af spædbørn | Autosomal recessiv hypophosphatæmisk rakitt type2Forenede Stater
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Sequenom, Inc.AfsluttetTurners syndrom | Downs syndrom (trisomi 21) | Patau syndrom (trisomi 13) | Edwards syndrom (trisomi 18)Forenede Stater
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Lenetix Medical Screening LaboratoryUkendtDowns syndrom (trisomi 21) | Edwards syndrom (trisomi 18) | Patau syndrom (trisomi 13) | Klinefelters syndrom (47, XXY) | og andre kromosomer | Abnormiteter.Forenede Stater
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Progenity, Inc.AfsluttetDowns syndrom | Aneuploidi | DiGeorges syndrom | Turners syndrom | Klinefelters syndrom | Kromosom sletning | Edwards syndrom | Patau syndromForenede Stater
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Masonic Cancer Center, University of MinnesotaRekrutteringAkut myeloid leukæmi | Juvenil myelomonocytisk leukæmi | Akut lymfatisk leukæmi | AML | Akut leukæmi | Neurofibromatose 1 | Hæmatologisk malignitet | Myelodysplasi | Minimal resterende sygdom | Kromosomabnormitet | Monosomi 7 | Remission | Somatisk mutation | Cytogenetisk abnormitet | TP53 | Foster hæmoglobin | Intrakromosomal... og andre forholdForenede Stater