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Inborn errors

Showing 1 - 25 of 962
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Non Infectious Presentation of Inborn Errors Of Immunity

Not yet recruiting
  • Inborn Errors of Immunity
    • Sohag, Egypt
      Sohag University Hospital
    May 21, 2023

    Genetic and Immunologic Characterization of IEI

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

      Inborn Errors of Cholesterol Synthesis and Related Disorders

      Recruiting
      • Lysosomal Storage Disease
      • Cholesterol Metabolism
        • Bethesda, Maryland
          National Institutes of Health Clinical Center
        Dec 28, 2022

        Transition, Inborn Errors of Metabolism Trial in Austria, Switzerland (Behavioral)

        Not yet recruiting
        • Transition
        • Inborn Errors of Metabolism
        • Behavioral
        • Vienna, Austria
        • +7 more
        Nov 9, 2022

        Intestinal Microbiota in Inborn Errors of Metabolism (IEM)

        Recruiting
        • Inborn Errors of Metabolism
        • +3 more
          • Zürich, Switzerland
            University Children's Hospital
          Apr 8, 2022

          Orphan Drugs for Inherited Metabolic Diseases

          Recruiting
          • Inborn Errors of Metabolism
            • Lausanne, Vaud, Switzerland
              Lausanne University Hospital
            Apr 19, 2023

            Metabolism, Infection, and Immunity in Inborn Errors of

            Recruiting
            • Oxidative Phosphorylation Deficiencies
            • +3 more
              • Bethesda, Maryland
                National Institutes of Health Clinical Center
              Jan 18, 2023

              Lymphoproliferative Disorders, Autoimmune Lymphoproliferative, Immune System Diseases Trial run by the NCI (drug, radiation,

              Recruiting
              • Lymphoproliferative Disorders
              • +4 more
              • Busulfan test dose
              • +8 more
              • Bethesda, Maryland
                National Institutes of Health Clinical Center
              Jan 23, 2023

              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

              Inherited Diseases, Caregiving, and Social Networks

              Completed
              • Undiagnosed Disease
              • +4 more
                • Bethesda, Maryland
                  National Institutes of Health Clinical Center
                Jan 6, 2023

                Organ Transplant, Cancer, Inborn Errors of Metabolism Trial (A sphygmanometer, a digital thermometer, a pulse oximeter and a

                Not yet recruiting
                • Organ Transplant
                • +5 more
                • A sphygmanometer, a digital thermometer, a pulse oximeter and a peak flow meter will be given to participants to use during their telemedicine consultations with health care providers.
                • (no location specified)
                Feb 8, 2023

                Large-Scale Metabolomic Profiling for Diagnosis of Inborn Errors

                Enrolling by invitation
                • Congenital Disorders of Glycosylation
                  • Rochester, Minnesota
                    Mayo Clinic in Rochester
                  Jan 8, 2022

                  Cholesterol, HDL, Lipid Metabolism, Inborn Errors, Tangier Disease Trial in Philadelphia (3H-cholesterol bound to albumin)

                  Suspended
                  • Cholesterol, HDL
                  • +4 more
                  • 3H-cholesterol bound to albumin
                  • Philadelphia, Pennsylvania
                    University of Pennsylvania
                  Jul 14, 2022

                  Utilizing Augmented Artificial Intelligence for

                  Completed
                  • Inborn Errors of Metabolism
                  • Plasma amino acid assay
                  • Karachi, Sindh, Pakistan
                    Aga Khan University Hospital
                  Jun 29, 2022

                  Biomarkers for Inborn Errors of Metabolism

                  Completed
                  • Inborn Errors of Metabolism
                  • Biomarker
                    • Tirana, Albania
                    • +12 more
                    Mar 23, 2022

                    Dyslipidemias, High Cholesterol, Hypercholesterolemia Trial in United States (Obicetrapib, Placebo)

                    Recruiting
                    • Dyslipidemias
                    • +8 more
                    • Sarasota, Florida
                    • +11 more
                    Aug 10, 2022

                    Adult Patients With Inborn Errors of Metabolism in Switzerland

                    Completed
                    • Inborn Errors of Metabolism
                      • Lausanne, Vaud, Switzerland
                        Lausanne University Hospitals
                      Jul 19, 2021

                      Carbohydrate Intolerance Trial in Springfield (Low-FODMAP diet group (LFD), Low Sugar diet group (LAS))

                      Recruiting
                      • Carbohydrate Intolerance
                      • Low-FODMAP diet group (LFD)
                      • Low Sugar diet group (LAS)
                      • Springfield, Oregon
                        Oregon Health and Science University
                      Sep 21, 2023

                      COVID-19 and Hereditary Metabolic Diseases

                      Recruiting
                      • Covid19
                      • Metabolism, Inborn Errors
                        • Lille, France
                          Hop Claude Huriez Chu Lille
                        Feb 28, 2022

                        Medium-chain Acyl-CoA Dehydrogenase Deficiency Trial in Pittsburgh (Triheptanoin)

                        Recruiting
                        • Medium-chain Acyl-CoA Dehydrogenase Deficiency
                        • Pittsburgh, Pennsylvania
                          UPMC Children's Hospital of Pittsburgh
                        Sep 27, 2023

                        Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) Trial (Triheptanoin)

                        Available
                        • Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)
                        • (no location specified)
                        Nov 22, 2022

                        Non-Immune Hydrops Fetalis Trial in France (NON-IMMUNE HYDROPS FETALIS diagnosis)

                        Recruiting
                        • Non-Immune Hydrops Fetalis
                        • NON-IMMUNE HYDROPS FETALIS diagnosis
                        • Besançon, France
                        • +16 more
                        Jan 17, 2022

                        Thiotepa and TEPA Drug Exposure in Pediatric Hematopoietic Stem

                        Active, not recruiting
                        • Hematologic Malignancies
                        • +7 more
                        • San Francisco, California
                          University of California, San Francisco
                        Feb 28, 2022

                        A Non-Interventional Post-Authorization Study of Carbaglu for

                        Enrolling by invitation
                        • Hyperammonemia
                        • +2 more
                        • carglumic acid
                        • Indianapolis, Indiana
                          Riley Children's Hospital
                        Apr 24, 2023

                        Induced Pluripotent Stem Cells for Development of Novel Drug

                        Recruiting
                        • Inborn Errors of Metabolism
                        • Skin biopsy
                        • Withdraw of blood
                        • Lahore, Pakistan
                          Children Hospital and Institute of Child Health
                        May 14, 2021