Clinical Trials on Aniridia - Cerebellar Ataxia - Intellectual Disability
Total 1304 results
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National Cancer Institute (NCI)Childrens Oncology Group (COG); LLS PedAL LLCRecruitingDown Syndrome | Recurrent Acute Myeloid Leukemia | Recurrent Myelodysplastic Syndrome | Refractory Acute Myeloid Leukemia | Refractory Myelodysplastic Syndrome | Recurrent Mixed Phenotype Acute Leukemia | Refractory Mixed Phenotype Acute Leukemia | Acute Myeloid Leukemia Post Cytotoxic Therapy | Myelodysplastic...United States
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Universitaire Ziekenhuizen KU LeuvenKU LeuvenUnknownObesity | Healthy Volunteers | Prader-Willi Syndrome | Muscle Hypotonia | Hypotonia-Cystinuria Syndrome | Dwarfism, Growth Hormone DeficiencyBelgium
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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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Assistance Publique - Hôpitaux de ParisRecruitingAdrenoleukodystrophy | Adrenomyeloneuropathy | Metachromatic Leukodystrophy | Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented GliaFrance
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Masonic Cancer Center, University of MinnesotaTerminatedSickle Cell Disease | Thalassemia | Cerebral Adrenoleukodystrophy | Inherited Metabolic Disorders | High Risk Hematologic DisordersUnited States
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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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Institute for Neurodegenerative DisordersCompletedParkinson Disease | Alzheimer Disease | Mild Cognitive Impairment | Fragile X Syndrome | Huntington Disease | Autistic Spectrum DisordersUnited States
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Richard FryeAutism Discovery and Treatment FoundationRecruitingEpilepsy | Neurodevelopmental Disorders | Autism Spectrum Disorder | Down Syndrome | Mitochondrial Encephalomyopathies | Pediatric Acute-Onset Neuropsychiatric Syndrome | Cerebral Folate Deficiency | Pediatric Autoimmune Neuropsychiatric Disorder Associated With Streptococcal InfectionUnited States
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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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Institut National de la Santé Et de la Recherche...RecruitingMucopolysaccharidosis I | Mucopolysaccharidosis II | Mucopolysaccharidosis VI | Mucopolysaccharidosis III | Mucopolysaccharidosis IV | Mucopolysaccharidosis VII | Multiple Sulfatase Deficiency Disease | Mucopolysaccharidosis IXFrance
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ProgenaBiomeRecruitingAutism Spectrum Disorder | Autistic Disorder | Autism | Autism, Akinetic | Autism; Atypical | Autism; Psychopathy | Autism Fragile Syndrome X | Autism With High Cognitive Abilities | Autism-Related Speech Delay | Autism, Susceptibility to, 6 | Autism Spectrum Disorder High-Functioning | Autistic Thinking | Autism... and other conditionsUnited States
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Children's Oncology GroupNational Cancer Institute (NCI)Active, not recruitingAcute Lymphoblastic Leukemia | Down Syndrome | Philadelphia Chromosome Positive | Childhood B Acute Lymphoblastic Leukemia With t(9;22)(q34.1;q11.2); BCR-ABL1 | Childhood B Acute Lymphoblastic Leukemia | Adult B Lymphoblastic Lymphoma | Ann Arbor Stage I B Lymphoblastic Lymphoma | Ann Arbor Stage... and other conditionsUnited States, Canada, Puerto Rico, Australia, New Zealand, Switzerland, Ireland
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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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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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Stephen G. Kaler, MDRecruitingMenkes Disease | Occipital Horn SyndromeUnited States
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Jakub AntczakCompletedAdrenomyeloneuropathy | Hereditary Spastic ParaplegiaPoland
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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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LLS PedAL Initiative, LLCNational Cancer Institute (NCI); Children's Oncology GroupRecruitingAcute Myeloid Leukemia | Juvenile Myelomonocytic Leukemia | Acute Lymphoblastic Leukemia | Myelodysplastic Syndrome | Myeloid Leukemia Associated With Down Syndrome | Mixed Phenotype Acute Leukemia | Acute Myeloid Leukemia Post Cytotoxic Therapy | Myelodysplastic Syndrome Post Cytotoxic TherapyUnited States, Canada, Australia, Puerto Rico, New Zealand
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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 College CorkNot yet recruitingGestational Diabetes | Neonatal Encephalopathy | Diastolic Dysfunction | Trisomy 21 | Transient Tachypnea of the Newborn | Small for Gestational Age at DeliveryIreland
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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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University of California, San FranciscoRecruitingMucopolysaccharidosis I | Mucopolysaccharidosis II | Mucopolysaccharidosis VI | Wolman Disease | Pompe Disease Infantile-Onset | Mucopolysaccharidosis IV A | Mucopolysaccharidosis VII | Neuronopathic Gaucher DiseaseUnited States
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University of Milano BicoccaComitato Maria Letizia Verga,ItalyRecruitingLymphoma, Non-Hodgkin | Leukemia, Myeloid, Acute | Leukemia, B-cell | Adrenoleukodystrophy | Lymphoma, Hodgkin | Thalassemia Major | Leukemia, T Cell | DrepanocytosisItaly
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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 CincinnatiChildren's Hospital Medical Center, CincinnatiTerminatedAdrenoleukodystrophy | Zellweger Syndrome | Infantile Refsum's Disease | Bifunctional Enzyme Deficiency
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University of ChicagoNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); National... and other collaboratorsCompletedKrabbe Disease | Mucopolysaccharidosis Type II (MPS II) | Mucopolysaccharidosis Type I (MPS I) | Mucopolysaccharidosis Type III (MPS III) | Mucopolysaccharidosis Type VI (MPS VI)United States
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Mirum Pharmaceuticals, Inc.Children's Hospital Medical Center, CincinnatiCompletedCholestasis | Peroxisomal Disorders | Adrenoleukodystrophy | Zellweger Syndrome | Infantile Refsum's DiseaseUnited States
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Masonic Cancer Center, University of MinnesotaCompletedWolman Disease | Adrenoleukodystrophy | Metachromatic Leukodystrophy | Sanfilippo Syndrome | GM1 Gangliosidosis | Globoid Cell Leukodystrophy | Tay Sachs Disease | Sandhoffs Disease | I-Cell DiseaseUnited States
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Masonic Cancer Center, University of MinnesotaCompletedMucopolysaccharidosis | Hurler Syndrome | Sphingolipidoses | Peroxisomal Disorders | Krabbe Disease | Adrenoleukodystrophy (ALD) | Hunter Syndrome | Sly Syndrome | Fucosidosis | Aspartylglucosaminuria | Alpha Mannosidosis | Metachromatic Leukodystrophy (MLD) | Maroteaux-Lamy SyndromeUnited States
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Children's Hospital of PhiladelphiaEli Lilly and Company; University of Pennsylvania; Takeda; National Institute of... and other collaboratorsRecruitingMucopolysaccharidoses | Leukoencephalopathies | 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... and other conditionsUnited 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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University Hospital, BordeauxRecruitingIntellectual Disability | Cystic Fibrosis | Neurodegeneration With Brain Iron Accumulation (NBIA) | Congenital Heart Defect | Albinism | Rubinstein-Taybi Syndrome | Periventricular Nodular HeterotopiaFrance
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Children's Oncology GroupNational Cancer Institute (NCI)CompletedSecondary Acute Myeloid Leukemia | Childhood Acute Erythroleukemia (M6) | Childhood Acute Megakaryocytic Leukemia (M7) | Childhood Acute Monoblastic Leukemia (M5a) | Childhood Acute Monocytic Leukemia (M5b) | Childhood Acute Myeloblastic Leukemia With Maturation (M2) | Childhood Acute Myeloblastic... and other conditionsUnited States, Canada, Australia, Puerto Rico
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Masonic Cancer Center, University of MinnesotaCompletedNiemann-Pick Disease | Wolman Disease | Adrenoleukodystrophy | Batten Disease | Metachromatic Leukodystrophy | GM1 Gangliosidosis | Fucosidosis | Globoid Cell Leukodystrophy | Gaucher's Disease | Tay Sachs Disease | Sandhoff DiseaseUnited States
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Joanne Kurtzberg, MDThe Marcus FoundationRecruitingMucopolysaccharidosis II | Brain Diseases, Metabolic, Inborn | Adrenoleukodystrophy | Batten Disease | Leukodystrophy, Metachromatic | Leukodystrophy, Globoid Cell | Alpha-Mannosidosis | Tay-Sachs Disease | Pelizaeus-Merzbacher Disease | Sandhoff Disease | Neimann Pick Disease | Sanfilippo MucopolysaccharidosesUnited 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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Duke UniversityUniversity of Edinburgh in Scotland; Tan Tock Seng Hospital in Singapore; Queens...RecruitingMultiple Sclerosis | Parkinson's Disease | Traumatic Brain Injury | Down Syndrome | Mild Cognitive Impairment | Frontotemporal Dementia | Huntington Disease | Amyotrophic Lateral Sclerosis (ALS) | Alzheimer's Disease | Concussion | Post-Traumatic Stress Disorder | Neuro-Degenerative Disease | Lewy Body Dementia | Normal... and other conditionsUnited States
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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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Albert Einstein College of MedicineEunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaboratorsEnrolling by invitationMucopolysaccharidosis II | Fabry Disease | Niemann-Pick Disease, Type C | Mucopolysaccharidosis VI | Lysosomal Acid Lipase Deficiency | Metachromatic Leukodystrophy | Gaucher Disease | Cerebrotendinous Xanthomatosis | Mucopolysaccharidosis IV A | GM1 Gangliosidosis | Mucopolysaccharidosis VII | Acid Sphingomyelinase... and other conditionsUnited States
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Faculty Hospital Kralovske VinohradyCompletedInfections | Multiple Sclerosis | Autoimmune Diseases | Diabetes Mellitus, Type 1 | Rheumatoid Arthritis | Vaccine Reaction | Inflammatory Bowel Diseases | Psoriasis | Crohn Disease | Ulcerative Colitis | Down Syndrome | Atopic Dermatitis | Vitiligo | Alopecia Areata | COVID-19 Pandemic | Ankylosing Spondylitis | Lupus Erythematosus and other conditionsCzechia
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Fairview University Medical CenterUnknownMucopolysaccharidosis I | Niemann-Pick Disease | Mucopolysaccharidosis VI | Wolman Disease | Adrenoleukodystrophy | Metachromatic Leukodystrophy | Pulmonary Complications | Fucosidosis | Globoid Cell Leukodystrophy | Gaucher's Disease | Mannosidosis | I Cell DiseaseUnited States
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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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Talaris Therapeutics Inc.Duke UniversityTerminatedNiemann-Pick Disease | Alpha-mannosidosis | Tay Sachs Disease | Sandhoff Disease | Metachromatic Leukodystrophy (MLD) | Hurler-Scheie Syndrome | Hurler Syndrome (MPS I) | Hunter Syndrome (MPS II) | Sanfilippo Syndrome (MPS III) | Krabbe Disease (Globoid Leukodystrophy) | Adrenoleukodystrophy (ALD and AMN) | Pelizaeus...United States
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Duke UniversityEunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaboratorsRecruitingHeart Failure | Pain | Pneumonia | Hypertension | Edema | Hemophilia | Insomnia | Pulmonary Arterial Hypertension | Coagulation Disorder | Asthma in Children | Down Syndrome | Attention Deficit Hyperactivity Disorder | Bronchopulmonary Dysplasia | Hypokalemia | Hyperphosphatemia | Primary Hyperaldosteronism | Adrenal Insufficiency and other conditionsUnited States, Canada
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University of FloridaLive Like Bella Pediatric Cancer ResearchCompletedCommon Variable Immunodeficiency | Severe Combined Immunodeficiency | Sickle Cell Disease | Hurler Syndrome | Chronic Granulomatous Disease | Thalassemia | Wiskott-Aldrich Syndrome | Adrenoleukodystrophy | X-linked Lymphoproliferative Disease | Diamond Blackfan Anemia | Bone Marrow Failure Syndrome | Hemophagocytic... and other conditionsUnited States
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New York Medical CollegeCompletedMucopolysaccharidosis I | Myelodysplastic Syndrome | Acute Lymphocytic Leukemia | Acute Myelogenous Leukemia | Niemann-Pick Disease | Mucopolysaccharidosis VI | Wolman Disease | Adrenoleukodystrophy | Batten Disease | Metachromatic Leukodystrophy | Diamond-Blackfan Anemia | Severe Aplastic Anemia | Fucosidosis | Gaucher... and other conditionsUnited States
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Masonic Cancer Center, University of MinnesotaRecruitingHurler Syndrome | Sphingolipidoses | Peroxisomal Disorders | Metachromatic Leukodystrophy | Alpha-Mannosidosis | Hunter Syndrome | Mucopolysaccharidosis Disorders | Maroteaux Lamy Syndrome | Sly Syndrome | Fucosidosis | Aspartylglucosaminuria | Glycoprotein Metabolic Disorders | Recessive Leukodystrophies | Globoid... 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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University of AarhusCompletedHeart Failure | Stroke | Epilepsy | Pain | Multiple Sclerosis | Hypertension | Diabetes Mellitus | Cancer | Chronic Kidney Diseases | Schizophrenia | Parkinson Disease | Migraine | Inflammatory Bowel Diseases | Anemia | HIV/AIDS | Atrial Fibrillation | Dyslipidemias | Allergy | Osteoporosis | Ischemic Heart Disease | Hearing Disorders | Substance... and other conditions
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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