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Genetic Diseases, Inborn

Showing 26 - 50 of >10,000
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Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell

Recruiting
  • Primary Immune Deficiency
    • Bethesda, Maryland
    • +6 more
    Feb 2, 2023

    Disorders: Genetics and Disease Characteristics

    Recruiting
    • Familial Mediterranean Fever (FMF)
    • +6 more
      • Bethesda, Maryland
        National Institutes of Health Clinical Center
      Jan 21, 2023

      Rare Diseases, Genetic Disease Trial in Angers (Skin biopsy, blood sample, urine sample)

      Recruiting
      • Rare Diseases
      • Genetic Disease
      • Skin biopsy, blood sample, urine sample
      • Angers, France
        Centre Hospitalo-Universitaire d'Angers
      Aug 10, 2022

      Beta-Thalassemia, Thalassemia, Genetic Diseases, Inborn Trial in Nashville (CTX001)

      Recruiting
      • Beta-Thalassemia
      • +4 more
      • CTX001
      • Nashville, Tennessee
      • +5 more
      Feb 2, 2023

      Young Pectus Excavatum Patients and Genetic Defects

      Completed
      • Genetic Disease
      • +2 more
      • Genetic analysis
      • Rotterdam, Zuid-Holland, Netherlands
        Erasmus Medical Center
      Jul 1, 2022

      Hereditary Diseases, Cholestasis, Intrahepatic Trial (4-Phenylbutyrate)

      Not yet recruiting
      • Hereditary Diseases
      • Cholestasis, Intrahepatic
      • (no location specified)
      Aug 4, 2022

      Molecular Diagnosis of Systemic Autoinflammatory Diseases

      Not yet recruiting
      • Inflammatory Disease
      • +4 more
        • Paris, France
          Trousseau Hospital
        May 23, 2022

        Modified Delphi for Genomic Bereavement Care

        Active, not recruiting
        • Fetal Anomaly
        • +2 more
        • Questionnaire
        • Leeds, United Kingdom
          Leeds Teaching Hospitals Trust
        Dec 16, 2022

        Ataxia, Degenerative Disease, Genetic Disease Trial in Saint-Didier-au-Mont-d'Or, Saint-Genis-Laval, Saint-Étienne (PAMPERO

        Not yet recruiting
        • Ataxia
        • +2 more
        • PAMPERO program
        • Saint-Didier-au-Mont-d'Or, France
        • +2 more
        Oct 17, 2023

        Inherited Reproductive Disorders

        Recruiting
        • Genetic Disorder
        • +3 more
          • Bethesda, Maryland
          • +1 more
          Dec 29, 2022

          Prenatal Screening, Pregnancy Related, Genetic Disease Trial in Milan (Cell-based non-invasive prenatal testing)

          Recruiting
          • Prenatal Screening
          • +2 more
          • Cell-based non-invasive prenatal testing
          • Milan, Italy
            Fondazione IRCCS Ca' Granda-Policlinico di Milano Ospedale Maggi
          Dec 20, 2022

          CUHK Stroke Biobank

          Recruiting
          • Stroke, Ischemic
          • +2 more
          • Gene expression or biomarkers exploration
          • Hong Kong, Hong Kong
            Chinese University of Hong Kong
          Aug 4, 2022

          Embryo, Embryo Disorder, Genetic Disease Trial in Ghent (AOA, Genetic screening, Calcium pattern analysis)

          Recruiting
          • Embryo
          • +2 more
          • AOA
          • +2 more
          • Ghent, East-Flandres, Belgium
            Ghent University Hospital
          Jul 18, 2022

          Beta-Thalassemia, Thalassemia, Hematologic Diseases Trial (CTX001)

          Not yet recruiting
          • Beta-Thalassemia
          • +6 more
          • CTX001
          • (no location specified)
          Jul 26, 2022

          Genetic Disease, Cancer Trial in Philadelphia (Educational Video)

          Recruiting
          • Genetic Disease
          • Cancer
          • Educational Video
          • Philadelphia, Pennsylvania
            Children's Hospital of Philadelphia
          Jul 21, 2022

          Natural History Study of Patients With HPDL Mutations

          Recruiting
          • Mitochondrial Encephalomyopathies
          • +6 more
          • Patient Registry
          • Dry blood spots sampling
          • San Diego, California
            Eun Hae Lee
          Apr 28, 2023

          Familial Hypercholesterolemia, Cholesterol, Elevated, Genetic Disease Trial in Duluth (Motivational interview (MI))

          Recruiting
          • Familial Hypercholesterolemia
          • +2 more
          • Motivational interview (MI)
          • Duluth, Minnesota
          • +1 more
          Feb 1, 2023

          SLC13A5 Deficiency Natural History Study - United States Only

          Recruiting
          • Citrate Transporter Deficiency
          • +9 more
            • Palo Alto, California
            • +2 more
            Nov 17, 2023

            Genetic and Immunologic Characterization of IEI

            Completed
            • Immunity Disorders
            • Inborn Errors of Immunity
              • Trieste, Italy
                IRCCS materno infantile Burlo Garofolo
              Apr 6, 2023

              Adaptive Optics Retinal Imaging in Inherited and Acquired

              Recruiting
              • Genetic Disease
              • Inherited Disease
              • Adaptive Optics Retinal Camera
              • Toronto, Ontario, Canada
                The Hospital for Sick Children
              Jul 27, 2022

              Von Hippel-Lindau Disease, Genetic Disorder Trial in Boston (3RP-VHL)

              Not yet recruiting
              • Von Hippel-Lindau Disease
              • Genetic Disorder
              • 3RP-VHL
              • Boston, Massachusetts
                Massachusetts General Hospital Cancer Center
              Feb 10, 2023

              Muscular Dystrophies, Muscular Dystrophy, Duchenne, Muscular Disorders, Atrophic Trial in Little Rock, Sacramento, Atlanta

              Recruiting
              • Muscular Dystrophies
              • +7 more
              • CAP-1002
              • Placebo
              • Little Rock, Arkansas
              • +9 more
              Jan 9, 2023

              Alpha Thalassemia Hemoglobin H Constant Spring, Hemoglobinopathies, Hereditary Diseases Trial in Nanning (RM-004)

              Recruiting
              • Alpha Thalassemia Hemoglobin H Constant Spring
              • +2 more
              • RM-004
              • Nanning, Guangxi, China
                The 923rd Hospital of Joint Logistics Support Force of People's
              Oct 25, 2023

              Genetic Predisposition to Disease, Breast Cancer Female, Ovarian Cancer Trial in Philadelphia (Sequential EHR Communications)

              Not yet recruiting
              • Genetic Predisposition to Disease
              • +6 more
              • Sequential EHR Communications
              • Philadelphia, Pennsylvania
                Abramson Cancer Center of the University of Pennsylvania
              Feb 8, 2023

              Biomarker for Friedreich's Ataxia (BioFridA)

              Enrolling by invitation
              • FXN Gene
              • +2 more
                • Beirut, Lebanon
                  American University of Science and Technology
                Aug 2, 2022