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Clinical Trials on Craniofacial Dysostosis
Total 490 results
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Assistance Publique - Hôpitaux de ParisNot yet recruiting
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National Human Genome Research Institute (NHGRI)RecruitingMetabolic Disease | Purine-Pyrimidine Metabolism | AICDA, OMIM *605257, Immunodeficiency With Hyper-IgM, Type 2; HIGM2 | UNG, OMIM *191525, Hyper-IgM Syndrome 5 | NT5C3A<TAB>, OMIM *606224, Anemia, Hemolytic, Due to UMPH1 Deficiency | UMPS, OMIM *613891, Orotic Aciduria | DHODH, OMIM *126064,... and other conditionsUnited States
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dr. Laura C. G. de Graaff-HerderRecruitingDisorders of Sex Development | Congenital Adrenal Hyperplasia | Tuberous Sclerosis | Kallmann Syndrome | Prader-Willi Syndrome | Neurofibromatosis | Rett Syndrome | 22q11 Deletion Syndrome | Turner Syndrome | Noonan Syndrome | Allan-Herndon-Dudley Syndrome | Saethre-Chotzen Syndrome | Congenital Hypopituitarism | Cornelia... and other conditionsNetherlands
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National Cancer Institute (NCI)RecruitingNeurofibromatosis 1 | Noonan Syndrome | Legius Syndrome | Cardiofaciocutaneous Syndrome | Costello SyndromeUnited States
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University Hospital TuebingenRecruiting
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Cardiff UniversityUniversity of CanterburyRecruitingCleft Lip and Palate | Parenting | Neurofibromatoses | Skin Condition | Alopecia | Craniofacial | Limb DifferenceUnited Kingdom
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Novo Nordisk A/SRecruitingTurner Syndrome | Noonan Syndrome | SGA | ISSKorea, Republic of, Malaysia, Netherlands, Spain, United States, Poland
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Fondation Ophtalmologique Adolphe de RothschildRecruitingTuberous Sclerosis | Focal Cortical Dysplasia | Hemimegalencephaly | Refractory Focal Epilepsy | Mild Malformation of Cortical Development With Oligodendroglial Hyperplasia in Epilepsy (MOGHE)France
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University Health Network, TorontoCompletedEffects of Photographic Aids (Photos of Faces) on Patient Recall of Their Clinical Care Team | Effects of Photographic Aids (Photos of Faces) on Clinician-patient Communication | Effects of Photographic Aids (Photos of Faces) on Overall Patient SatisfactionCanada
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Novo Nordisk A/SRecruitingSGA, Turner Syndrome, Noonan Syndrome, ISSKorea, Republic of, United States, Ireland, United Kingdom, Finland, France, Netherlands, Japan, Thailand, Belgium, China, Israel, Brazil, India, Portugal, Austria, Bulgaria, Canada, Croatia, Germany, Greece, Malaysia, Poland, Saudi Arabia and more
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Oslo University HospitalUniversity of Oslo; Ullevaal University Hospital; University Hospital, AkershusWithdrawnMicrocephaly | Hearing Loss | Mental Retardation | ChorioretinitisNorway
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Andres SchanzerRecruitingMarfan Syndrome | Ehlers-Danlos Syndrome | Aortic Arch Aneurysm | Complex Aortic Aneurysms | Juxtarenal Aneurysms | Loeys-Dietz Syndrome | Thoracoabdominal Aneurysms | Pararenal AneurysmsUnited States
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Centre Hospitalier Universitaire VaudoisSwiss National Science FoundationRecruitingKallmann Syndrome | Hypogonadotropic Hypogonadism | Hypothalamic Amenorrhea | Polycystic Ovarian Syndrome | Precocious Puberty | Cleft Lip and Palate | Cleft Palate | Cleft LipSwitzerland
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The Chaim Sheba Medical CenterRecruitingFragile X Syndrome | Williams Syndrome | Velocardiofacial SyndromeIsrael
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Stanford UniversityThe Marfan FoundationActive, not recruitingChronic Pain | Marfan Syndrome | Vascular Ehlers-Danlos Syndrome | Loeys-Dietz SyndromeUnited States
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Assistance Publique - Hôpitaux de ParisCompletedSeckel Syndrome | Microcephalic Osteodysplastic Primordial Dwarfism Type IIFrance
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Institut National de la Santé Et de la Recherche...RecruitingPrader-Willi Syndrome | Angelman Syndrome | Beckwith-Wiedemann Syndrome | Pseudohypoparathyroidism | Silver Russell Syndrome | Transient Neonatal Diabetes Mellitus | Temple Syndrome | Kagami-Ogata Syndrome | Familial Precocious PubertyFrance
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University of California, San FranciscoCompletedParesthesia | Nerve Injury | Fracture | Surgical Complication | Mandibular Hypoplasia | Mandibular Nerve Injuries | Mandibular Retrognathism | Mandibular Prognathism | Nerve Entrapments | Mandibular HyperplasiaUnited States
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Golden Jubilee National HospitalUniversity of Glasgow; Royal Infirmary of Edinburgh; Aberdeen Royal Infirmary; Network...Not yet recruitingAortic Valve Insufficiency | Marfan Syndrome | Bicuspid Aortic Valve | Aortic Diseases | Aortic Dissection | Aortic Aneurysm, Thoracic | Ehlers-Danlos Syndrome | Aortic Ectasia | Loeys-Dietz Syndrome
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University of Colorado, DenverCompletedMarfan Syndrome | Turner Syndrome | Loeys-Dietz Syndrome | Thoracic Aortic Aneurysm and Dissection Syndromes | Ehlers-Danlos Type IV SyndromeUnited States
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National Institute of Neurological Disorders and...Baylor College of MedicineCompletedPrader-Willi Syndrome | DiGeorge Syndrome | Williams Syndrome | Angelman Syndrome | Smith-Magenis Syndrome | Chromosome Abnormalities | Shprintzen SyndromeUnited States
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Boston Children's HospitalRecruitingGenetic Disease | Chopra-Amiel-Gordon Syndrome | CAGS | ANKRD17United States
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Progenity, Inc.UnknownDown Syndrome | DiGeorge Syndrome | Turner Syndrome | Klinefelter Syndrome | Edwards Syndrome | Patau Syndrome | Perinatal InfectionsUnited 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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University of North Carolina, Chapel HillNational Human Genome Research Institute (NHGRI); East Carolina University; Mission...Active, not recruitingNeuromuscular Diseases | Movement Disorders | Intellectual Disability | Autism Spectrum Disorder | Microcephaly | Hearing Loss | Genetic Disease | Inborn Errors of Metabolism | Epilepsy; Seizure | Brain Malformation | Hypotonia | Development Delay | Chromosome Abnormality | Dysmorphic Features | Skeletal Dysplasia | Congenital... and other conditionsUnited States
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Nemours Children's ClinicPotentials Foundation; Walking with Giants FoundationRecruitingMOPDII | RNU4atac-opathy (e.g. MOPDI/III, Lowry-Wood Syndrome, Roifman Syndrome) | Meier-Gorlin Syndrome | Saul-Wilson Syndrome | Ligase 4 Syndrome | Microcephalic Primordial DwarfismUnited 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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National Taiwan University HospitalRecruitingStroke | Magnetic Resonance Imaging | Fabry Disease | Cerebral Small Vessel Diseases | Cadasil | HTRA1-Related Autosomal Dominant Cerebral Angiopathy | COL4A1-Related Brain Small Vessel Disease With Haemorrhage | Next-generation SequencingTaiwan
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Novo Nordisk A/SCompletedChronic Kidney Disease | Turner Syndrome | Noonan Syndrome | Chronic Renal Insufficiency | Growth Hormone Disorder | Growth Hormone Deficiency in Children | Adult Growth Hormone Deficiency | Genetic Disorder | Foetal Growth Problem | Small for Gestational AgeIsrael, Saudi Arabia, Spain, Argentina, Russian Federation, Germany, Netherlands, Italy, Belgium, United Kingdom, Slovenia, Ireland, Sweden, Denmark, Hungary, Finland, Norway, France, Czechia, Lithuania, Luxembourg, Serbia, Switzerland
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University of California, Los AngelesUniversité de MontréalWithdrawnStroke | Epilepsy | Tuberous Sclerosis | Sturge-Weber Syndrome | Focal Cortical Dysplasia | Hemimegalencephaly | Polymicrogyria | Rasmussen Encephalitis | Gliosis | Tumor, BrainUnited States, Canada
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Children's Hospital Medical Center, CincinnatiRecruitingNeurofibromatosis 1 | Noonan Syndrome | Legius Syndrome | Cardiofaciocutaneous Syndrome | Costello Syndrome | SYNGAP1-Related Intellectual Disability | DLG4 | RAS Mutation | Noonan Syndrome With Multiple Lentigines | Noonan Neurofibromatosis Syndrome | Smith-Kingsmore Syndrome | MTOR Gene Mutation | GATOR-1 Gene... and other conditionsUnited States
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Washington University School of MedicineRecruitingSevere Combined Immunodeficiency | Chronic Granulomatous Disease | DiGeorge Syndrome | Hemophagocytic Lymphohistiocytosis | Wiskott-Aldrich Syndrome | X-linked Lymphoproliferative Syndrome | X-linked Agammaglobulinemia | Chediak-Higashi Syndrome | IPEX | Autoimmune Lymphoproliferative Syndrome | Common Variable... and other conditionsUnited States
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National Heart, Lung, and Blood Institute (NHLBI)National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)CompletedMarfan Syndrome | Turner Syndrome | Ehlers-Danlos Syndrome | Loeys-Dietz Syndrome | Shprintzen-Goldberg Syndrome | FBN1, TGFBR1, TGFBR2, ACTA2 or MYH11 Genetic Mutation | Bicuspid Aortic Valve Without Known Family History | Bicuspid Aortic Valve With Family History | Bicuspid Aortic Valve With Coarctation and other conditionsUnited States
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Anagnostou, Evdokia, M.D.The Hospital for Sick Children; Canadian Institutes of Health Research (CIHR); Alberta Health services and other collaboratorsNot yet recruitingAnxiety Disorders | Generalized Anxiety Disorder | Anxiety | Tuberous Sclerosis | ADHD | Neurodevelopmental Disorders | Autism Spectrum Disorder | Fragile X Syndrome | Social Anxiety | Social Anxiety Disorder | Agoraphobia | Tourette Syndrome | Tic Disorders | Autism | ADHD Predominantly Inattentive Type | ADHD - Combined... and other conditionsCanada
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RTI InternationalUniversity of North Carolina, Chapel HillEnrolling by invitationTuberous Sclerosis | Down Syndrome | Duchenne Muscular Dystrophy | Prader-Willi Syndrome | Fragile X Syndrome | Rett Syndrome | Turner Syndrome | Williams Syndrome | Angelman Syndrome | Chromosome 22q11.2 Deletion Syndrome | Klinefelter Syndrome | Phelan-McDermid Syndrome | Dup15Q Syndrome | Smith Magenis SyndromeUnited States
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Indiana UniversityRecruitingAortic Valve Disease | Marfan Syndrome | Bicuspid Aortic Valve | Thoracic Aortic Aneurysm | Thoracic Aortic Dissection | Turner Syndrome | Vascular Ehlers-Danlos Syndrome | Familial Thoracic Aortic Aneurysm and Aortic Dissection | PHACE Syndrome | Aortopathies | Thoracic Aortic Disease | Thoracic Aortic Rupture and other conditionsUnited States
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Assistance Publique - Hôpitaux de ParisNot yet recruitingHemophilia A | Hemophilia B | Cystic Fibrosis | Sickle Cell Disease | Muscular Dystrophy, Duchenne | Fragile X Syndrome | Huntington Disease | Myotonic Dystrophy | Autosomal Recessive Polycystic Kidney Disease | Neurofibromatosis-Noonan Syndrome | Muscular Dystrophy, Becker | Invasive PreNatal Diagnosis in a... and other conditionsFrance
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St. Jude Children's Research HospitalRecruitingPancreatic Cancer | Hodgkin Lymphoma | Lynch Syndrome | Tuberous Sclerosis | Fanconi Anemia | AML | Non Hodgkin Lymphoma | Familial Adenomatous Polyposis | Acute Leukemia | Nevoid Basal Cell Carcinoma Syndrome | Neurofibromatosis Type 1 | Neuroblastoma | Retinoblastoma | MDS | Rhabdomyosarcoma | Von Hippel-Lindau Disease | Adrenocortical Carcinoma and other conditionsUnited States
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Sanford HealthNational Ataxia Foundation; Beyond Batten Disease Foundation; Pitt Hopkins Research... and other collaboratorsRecruitingMitochondrial Diseases | Retinitis Pigmentosa | Myasthenia Gravis | Eosinophilic Gastroenteritis | Multiple System Atrophy | Leiomyosarcoma | Leukodystrophy | Anal Fistula | Spinocerebellar Ataxia Type 3 | Friedreich Ataxia | Kennedy Disease | Lyme Disease | Hemophagocytic Lymphohistiocytosis | Spinocerebellar Ataxia... and other conditionsUnited States, Australia
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RTI InternationalEunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaboratorsEnrolling by invitationPrimary Hyperoxaluria Type 3 | Diabetes Mellitus | Hemophilia A | Hemophilia B | Hereditary Fructose Intolerance | Cystic Fibrosis | Factor VII Deficiency | Phenylketonurias | Sickle Cell Disease | Dravet Syndrome | Duchenne Muscular Dystrophy | Prader-Willi Syndrome | Fragile X Syndrome | Chronic Granulomatous Disease and other conditionsUnited States