Search clinical trials for: genetic diseases and dysmorphic syndromes
Total 480966 results
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Paul SzabolcsRecruitingCongenital Bone Marrow Failure Syndromes | Inflammatory Conditions | Primary Immunodeficiency (PID) | Inherited Metabolic Disorders (IMD) | Hereditary Anemias | Systemic Juvenile Idiopathic Arthritis (sJIA)United States
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National Institute of Allergy and Infectious Diseases...Baylor College of Medicine; UCSF Diabetes Center and Division of Infectious... and other collaboratorsRecruiting
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The Children's Tumor FoundationRecruitingNeurofibromatosis 1 | Neurofibromatosis 2 | SchwannomatosisUnited States
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Boston Children's HospitalRecruitingEpilepsy | Dravet Syndrome | Infantile Spasms | Epileptic Encephalopathy | Ohtahara Syndrome | Early Myoclonic Epileptic Encephalopathy | PCDH19-related Epilepsy and Related Conditions | KCNQ2-Related Epileptic Encephalopathy | Epilepsy of Infancy With Migrating Focal Seizures (Disorder)United 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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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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Massachusetts General HospitalRecruitingBone Marrow and Kidney Transplant for Patients With Chronic Kidney Disease and Blood Disorders (BMT)Autoimmune Diseases | Multiple Myeloma | Hodgkin Disease | AL Amyloidosis | Myelofibrosis | Chronic Kidney Disease | Sickle Cell Anemia | Thalassemia | Aplastic Anemia | Chronic Lymphocytic Leukemia (CLL) | Acute Myeloid Leukemia (AML) | Acute Lymphoblastic Leukemia (ALL) | Myelodysplastic Syndrome (MDS) | Non-Hodgkin... and other conditionsUnited States
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Masonic Cancer Center, University of MinnesotaRecruitingCommon Variable Immunodeficiency | Chronic Granulomatous Disease | Hemophagocytic Lymphohistiocytosis | Wiskott-Aldrich Syndrome | X-linked Lymphoproliferative Disease | Langerhan's Cell Histiocytosis | Chediak-Higashi Syndrome | Griscelli Syndrome | Bare Lymphocyte Syndrome | SCID | Omenn's Syndrome | Reticular... and other conditionsUnited States
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National Eye Institute (NEI)RecruitingAge-Related Macular Degeneration | Diabetic Retinopathy | Retinal Vein Occlusion | Retinal Disease | Von Hippel-Lindau SyndromeUnited States
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Gynecologic Oncology GroupNational Cancer Institute (NCI)Not yet recruitingFallopian Tube Carcinoma | Ovarian Carcinoma | Hereditary Breast and Ovarian Cancer Syndrome | Primary Peritoneal CarcinomaUnited States
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National Cancer Institute (NCI)RecruitingNeoplasms | Li-Fraumeni Syndrome | Tp53 MutationsUnited States
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National Cancer Institute (NCI)RecruitingLymphoma | Breast Cancer | Ovarian Cancer | Lung Cancer | Prostate CancerUnited 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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Lisa 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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Pharming Technologies B.V.RecruitingHereditary AngioedemaGermany, Bulgaria, Croatia, Czechia, France, Hungary, Italy, North Macedonia, Poland, Slovakia, Norway, Slovenia, Sweden
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National Institute of Allergy and Infectious Diseases...RecruitingX-linked Severe Combined Immunodeficiency (XSCID)United States
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National Institute of Allergy and Infectious Diseases...RecruitingFungal Infections | Primary Immune DeficienciesUnited States
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University of IowaChildren's Hospital of Philadelphia; University College London Hospitals; National... and other collaboratorsRecruitingCharcot Marie Tooth DiseaseUnited States, United Kingdom, Australia, Italy
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Gynecologic Oncology GroupNational Cancer Institute (NCI)Not yet recruitingLynch Syndrome | Recurrent Uterine Corpus Carcinoma | Stage I Uterine Corpus Cancer | Stage II Uterine Corpus Cancer | Stage III Uterine Corpus Cancer | Stage IV Uterine Corpus CancerUnited States
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University of IowaJohns Hopkins University; University of Colorado, Denver; King's College Hospital... and other collaboratorsRecruitingCharcot-Marie-Tooth Disease, Type Ia (Disorder) | HMSNUnited States, Italy, United Kingdom, Australia
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Michael ShyJohns Hopkins University; University of Colorado, Denver; King's College Hospital... and other collaboratorsRecruitingCharcot Marie Tooth DiseaseUnited States, Australia, Italy, United Kingdom, Canada
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National Cancer Institute (NCI)RecruitingDOCK8 DeficiencyUnited States
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National Heart, Lung, and Blood Institute (NHLBI)RecruitingParkinson's Disease | Atherosclerosis | Cardiomyopathy | Li-Fraumeni Syndrome | Cardiovascular CapacityUnited States
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ShireTakeda Development Center Americas, Inc.RecruitingHereditary Angioedema (HAE)France, Austria, Australia, Spain, Czechia, Italy, United Kingdom, Germany, Israel, Ireland, Brazil, Denmark, Greece, Sweden
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National Heart, Lung, and Blood Institute (NHLBI)RecruitingBronchiectasis | Common Variable Immunodeficiency | Cystic Fibrosis | Autoimmune DiseaseUnited States
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University of Puerto RicoNational Cancer Institute (NCI)RecruitingColorectal Neoplasms | Gastric Cancer | Colorectal Cancer | Lynch Syndrome | Colorectal AdenomaPuerto Rico
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Children's Oncology GroupNational Cancer Institute (NCI)RecruitingRenal Cell Carcinoma | Wilms Tumor | Clear Cell Sarcoma of the Kidney | Papillary Renal Cell Carcinoma | Kidney Medullary Carcinoma | Diffuse Hyperplastic Perilobar Nephroblastomatosis | Rhabdoid Tumor of the Kidney | Congenital Mesoblastic Nephroma | Renal Cell Carcinoma Associated With Xp11.2 Translocations... and other conditionsUnited States, Canada, Puerto Rico, Australia, New Zealand, Israel, Switzerland
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St. Jude Children's Research HospitalRecruitingMucopolysaccharidosis I | Severe Combined Immunodeficiency | Neuroblastoma | Neoplasm | Malignancy, HematologicUnited States
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National Institute of Neurological Disorders and...Recruiting
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Memorial Sloan Kettering Cancer CenterNational Cancer Institute (NCI); Albert Einstein College of MedicineRecruiting
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M.D. Anderson Cancer CenterRecruitingLynch Syndrome | Hereditary Nonpolyposis Colorectal CancerUnited States
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National Institute of Allergy and Infectious Diseases...RecruitingImmune DeficienciesUnited States
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National Institute of Allergy and Infectious Diseases...RecruitingPrimary Immune DeficiencyUnited States, Turkey
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National Institute of Allergy and Infectious Diseases...RecruitingChronic Granulomatous Disease (CGD) | X-Linked Severe Combined Immune Deficiency (XSCID) | Leukocyte Adhesion Deficiency 1 (LAD) | Graft Versus Host Disease (cGvHD)United States
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Feinstein Institute for Medical ResearchDiamond Blackfan Anemia Foundation, Inc.Recruiting
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National Heart, Lung, and Blood Institute (NHLBI)Recruiting
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National Cancer Institute (NCI)RecruitingMelanoma | Dysplastic Nevus SyndromeUnited States
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AIDS Clinical Trials GroupNational Institute of Allergy and Infectious Diseases (NIAID)RecruitingHIV InfectionsUnited States, Puerto Rico
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National Cancer Institute (NCI)RecruitingFanconi Anemia | Dyskeratosis Congenita | Diamond Blackfan Anemia | Shwachman Diamond Syndrome | Inherited Bone Marrow Failure Syndrome, Aplastic AnemiaUnited States
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National Cancer Institute (NCI)RecruitingKidney Cancer | Bladder Cancer | Renal Cancer | Malignant Neoplasms | Hereditary Neoplastic SyndromesUnited States
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National Institute of Allergy and Infectious Diseases...Albert Einstein College of MedicineRecruitingInfections | Immune System Diseases | Pneumonia | Job Syndrome | STAT3 Transcription FactorUnited States
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National Human Genome Research Institute (NHGRI)Recruiting
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National Heart, Lung, and Blood Institute (NHLBI)Uniformed Services University of the Health SciencesRecruiting
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National Heart, Lung, and Blood Institute (NHLBI)Suburban HospitalRecruitingAsthma | Pulmonary Fibrosis | Tuberous Sclerosis | Cystic Fibrosis | Pulmonary SarcoidosisUnited States
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National Heart, Lung, and Blood Institute (NHLBI)RecruitingPneumothorax | Tuberous Sclerosis | Lung Disease | LymphangioleiomyomatosisUnited States
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National Cancer Institute (NCI)RecruitingKidney Cancer | Renal Cell Carcinoma | Urologic Malignant Disorders | Familial Renal Cancer (FRC) | Clear Cell Renal CancerUnited States
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National Institute of Allergy and Infectious Diseases...RecruitingGranuloma | Granulomatous Disease, Chronic | Leukocyte Disease | Genetic Disease, X-Linked | Genetic Disease, InbornUnited States
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National Institute of Allergy and Infectious Diseases...Recruiting
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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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National Institute of Allergy and Infectious Diseases...Enrolling by invitationSevere Combined Immune Deficiency (SCID)United States