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inborn errors of immunity

Showing 1 - 25 of 2,653
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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

      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

        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

          Intestinal Microbiota in Inborn Errors of Metabolism (IEM)

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

            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

              Biomarkers for Inborn Errors of Metabolism

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

                Orphan Drugs for Inherited Metabolic Diseases

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

                    Adult Patients With Inborn Errors of Metabolism in Switzerland

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

                      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

                      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

                      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

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

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

                      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

                        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

                        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