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Steroid Metabolism, Inborn Errors

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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

    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

      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

        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

              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

                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

                  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

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

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

                  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

                  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

                    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

                    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

                    Mitochondrial Diseases, Pearson Syndrome Trial in Ramat Gan (MNV-201)

                    Recruiting
                    • Mitochondrial Diseases
                    • Pearson Syndrome
                    • MNV-201
                    • Ramat Gan, Israel
                      Sheba Medical Center
                    Aug 24, 2023