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Genetic%20Diseases,%20Inborn

Showing 1 - 25 of >10,000

STUDY
CONDITIONS
INTERVENTIONS
LOCATIONS

Newborn Genomics Programme

Not yet recruiting
  • Genetic Disease
  • Newborn Morbidity
  • Genetic testing
  • Auckland, New Zealand
    Auckland City Hospital
Oct 10, 2023

Pre-implantation Genetic Testing for Monogenic Disease: Single

Completed
  • Genetic Disease
  • Aneuploidy
  • Pre-implantation genetic testing
  • (no location specified)
Jun 29, 2023

Genetic Diseases in Infants With Unknown Cause of Death

Active, not recruiting
  • Sudden Infant Death
    • Ankara, Not US Or Canada, Turkey
      Hatice Mutlu
    Sep 23, 2023

    Genetic Disease, Nervous System Diseases Trial (Patient cohort, Control cohort)

    Not yet recruiting
    • Genetic Disease
    • Nervous System Diseases
    • Patient cohort
    • Control cohort
    • (no location specified)
    Sep 15, 2023

    Structural Chromosome Rearrangements and Brain Disorders

    Enrolling by invitation
    • Rare Diseases
    • +2 more
      • Stockholm, Sweden
        Anna Lindstrand
      Oct 2, 2023

      Clinical Presentation of Genetic Disorders in Patients Attending

      Not yet recruiting
      • Genetic Disease Clinical Presentation in Patients Attending Genetics Outpatient Clinic of Assiut University Children Hospital
        • (no location specified)
        Jun 2, 2023

        Obesity, Childhood, Genetic Disease Trial in Houston

        Recruiting
        • Obesity, Childhood
        • Genetic Disease
          • Houston, Texas
            Baylor College of Medicine
          Feb 27, 2023

          Technological Development and Clinical Parallel Testing of PGT-G

          Not yet recruiting
          • Genetic Disease
            • (no location specified)
            Nov 7, 2022

            Cerebral Palsy, Genetic Disease, Developmental Delay Trial in Ljubljana (NGS)

            Completed
            • Cerebral Palsy
            • +3 more
            • NGS
            • Ljubljana, Slovenia
              University Children's Hospital, University Medical Centre Ljublj
            Nov 1, 2022

            Genetic Study of Obstructive Azoospermia

            Recruiting
            • Genetic Disease
              • Guangzhou, Guangdong, China
                107 Yan Jiang Xi Road
              Nov 20, 2022

              Genetic Disease, Cancer, Cardiovascular Diseases Trial in Philadelphia (private web-portal eHealth disclosure of genetic

              Enrolling by invitation
              • Genetic Disease
              • +2 more
              • private web-portal eHealth disclosure of genetic results
              • eHealth education intervention (web or chatbot)
              • Philadelphia, Pennsylvania
                University of Pennsylvania
              Oct 18, 2023

              Genetic Disease, Genetic Predisposition Trial (Access to Genetic Counselor for answering questions)

              Not yet recruiting
              • Genetic Disease
              • Genetic Predisposition
              • Access to Genetic Counselor for answering questions
              • (no location specified)
              Jan 10, 2023

              UW Undiagnosed Genetic Diseases Program

              Recruiting
              • Rare Diseases
              • +2 more
              • Trio Whole Genome Sequencing and Participant-Specific Research
              • Madison, Wisconsin
                University of Wisconsin School of Medicine and Public Health
              Nov 4, 2022

              Novel Genetic Disorders of the Immune System

              Recruiting
              • PI3KCD
              • +3 more
                • Bethesda, Maryland
                  National Institutes of Health Clinical Center
                Feb 2, 2023

                Healthy Volunteer, Muscular Dystrophies, Muscular Disorders, Atrophic Trial in Madison (EDG-5506 Tablet, Radiolabeled EDG-5506

                Recruiting
                • Healthy Volunteer
                • +7 more
                • EDG-5506 Tablet
                • +2 more
                • Madison, Wisconsin
                  Labcorp Clinical Research Unit, Inc.
                Feb 7, 2023

                Infertility, Genetic Disease, Chromosomal Rearrangement Trial in Hong Kong (microfluidic chip, density gradient centrifugation)

                Not yet recruiting
                • Infertility
                • +3 more
                • microfluidic chip
                • density gradient centrifugation
                • Hong Kong, Hong Kong, China
                  Department of Obstetrics and Gynaecology
                Aug 28, 2023

                Pediatric Patients With Metabolic or Other Genetic Disorders

                Recruiting
                • Genetic Disorder
                • +4 more
                  • Bethesda, Maryland
                    National Institutes of Health Clinical Center
                  Jan 28, 2023

                  Peripheral Blood Hematopoietic Stem Cells, Mononuclear Cells and

                  Recruiting
                  • Granuloma
                  • +4 more
                    • Bethesda, Maryland
                      National Institutes of Health Clinical Center
                    Jan 25, 2023

                    Investigating Hereditary Risk In Thoracic Cancers (INHERIT)

                    Active, not recruiting
                    • Lung Cancer
                    • +3 more
                    • Data and Specimen Collection
                    • Boston, Massachusetts
                    • +1 more
                    Jan 20, 2023

                    Long Read Genome Sequencing in Patients Suffering From

                    Recruiting
                    • Genetic Disease
                    • +3 more
                      • Nantes, Loire-Atlantique, France
                        Nantes University Hospital
                      Jan 25, 2023

                      Evaluating Prenatal Exome Sequencing Study

                      Enrolling by invitation
                      • Congenital Anomalies
                      • +2 more
                        • Leiden, Zuid-Holland, Netherlands
                          Leiden University Medical Centre
                        Mar 21, 2022

                        Infant, Newborn, Disease, Genetic Disease Trial in Pittsburgh (Neonate WGS Testing)

                        Enrolling by invitation
                        • Infant, Newborn, Disease
                        • Genetic Disease
                        • Neonate WGS Testing
                        • Pittsburgh, Pennsylvania
                          UPMC Children's Hospital of Pittsburgh
                        Dec 9, 2022

                        Diagnostic Odyssey: Whole Genome Sequencing (WGS)

                        Recruiting
                        • Genetic Disease
                        • Genetic Syndrome
                        • Genetic Enrollees
                        • Miami, Florida
                          Nickalus Children's Hospital f/k/a Miami Children's Hospital
                        Nov 11, 2022

                        Breast Cancer, Genetic Disease, BRCA2 Mutation Trial (blood sample for BRCA2 mutation detection)

                        Not yet recruiting
                        • Breast Cancer
                        • +2 more
                        • blood sample for BRCA2 mutation detection
                        • (no location specified)
                        Jun 1, 2023

                        Genetic Disease, Genetic Syndrome, Genetic Predisposition to Disease Trial in Boston

                        Recruiting
                        • Genetic Disease
                        • +4 more
                          • Boston, Massachusetts
                            Boston Children's Hospital
                          Oct 17, 2022