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Inborn errors of metabolism

Showing 1 - 25 of 6,907
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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

    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

      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

        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

          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

            Inherited Diseases, Caregiving, and Social Networks

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

              Biomarkers for Inborn Errors of Metabolism

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

                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

                Utilizing Augmented Artificial Intelligence for

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

                  COVID-19 and Hereditary Metabolic Diseases

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

                    Brain Metabolism Observed at 7 Tesla

                    Recruiting
                    • Glut1 Deficiency Syndrome 1
                    • +6 more
                    • Magnetic resonance imaging
                    • Dallas, Texas
                      UT Southwestern Medical Center
                    Aug 24, 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

                    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

                    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

                    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

                    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

                    Urea Cycle Disorder, Inborn Errors of Metabolism Trial in Philadelphia (UCD Anamix Infant)

                    Completed
                    • Urea Cycle Disorder
                    • Inborn Errors of Metabolism
                    • UCD Anamix Infant
                    • Philadelphia, Pennsylvania
                      Children's hospital of Philadelphia
                    Dec 8, 2021

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

                    Recruiting
                    • Medium-chain Acyl-CoA Dehydrogenase Deficiency
                    • Sodium phenylbutyrate
                    • Pittsburgh, Pennsylvania
                      UPMC Children's Hospital of Pittsburgh
                    Oct 4, 2023