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Inborn Error of Metabolism

Showing 1 - 25 of 9,745
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Biomarker for Homozygous Familial Hypercholesterolemia (BioHoFH)

Active, not recruiting
  • Lipoprotein Lipase Deficiency
  • +2 more
    • Rostock, Germany
    • +3 more
    May 12, 2021

    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

      Biomarkers for Inborn Errors of Metabolism

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

        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

            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

              Orphan Drugs for Inherited Metabolic Diseases

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

                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

                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

                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

                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

                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

                    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

                    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

                    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

                    Effort Test asTherapeutic Monitoring Tool in Acute

                    Completed
                    • Rhabdomyolysis Linked to a Hereditary Disease of Metabolism
                    • Effort test
                    • Functional tests on fibroblasts
                    • Paris, France
                      Hôpital Necker-Enfants Malades
                    Oct 10, 2022

                    Methylmalonic Acidemia (MMA) Trial run by the Selecta Biosciences, Inc. (SEL-302)

                    Recruiting
                    • Methylmalonic Acidemia (MMA)
                    • Bethesda, Maryland
                      National Human Genome Research Institute, National Institutes of
                    Mar 9, 2023

                    Pattern of Metabolic Causes of Neonatal Hypoglycemia

                    Not yet recruiting
                    • Neonatal Hypoglycemia
                    • Metabolic Disease
                      • (no location specified)
                      Jul 24, 2023

                      HFI Trial in Maastricht (PF-06801591)

                      Recruiting
                      • HFI
                      • Maastricht, Limburg, Netherlands
                        Maastricht University Medical centre
                      Oct 16, 2023

                      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