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Genetic diseases, inborn

Showing 26 - 50 of >10,000
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Evaluating Prenatal Exome Sequencing Study

Enrolling by invitation
  • Congenital Anomalies
  • +2 more
    • Leiden, Zuid-Holland, Netherlands
      Leiden University Medical Centre
    Mar 21, 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

    Disorders: Genetics and Disease Characteristics

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

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

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

      Modified Delphi for Genomic Bereavement Care

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

      Young Pectus Excavatum Patients and Genetic Defects

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

      Inherited Reproductive Disorders

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

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

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

        SLC13A5 Deficiency Natural History Study - United States Only

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

          Molecular Diagnosis of Systemic Autoinflammatory Diseases

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

            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

            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

            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

            Genetic and Immunologic Characterization of IEI

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

              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

              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

              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

              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

              Genetic Disease, Cancer Trial in Philadelphia (Educational Video)

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

              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

              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

              Hereditary Diseases Trial in Flint (African American Family Health History Education Program)

              Not yet recruiting
              • Hereditary Diseases
              • African American Family Health History Education Program
              • Flint, Michigan
                Michigan State University
              Jan 6, 2023