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Pyruvate Metabolism, Inborn Errors

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Pyruvate Kinase Deficiency, Pyruvate Kinase Deficiency Anemia, Anemia Trial in Worldwide

Recruiting
  • Pyruvate Kinase Deficiency
  • +3 more
    • Boston, Massachusetts
    • +4 more
    Aug 5, 2022

    Pediatric Pyruvate Kinase Deficiency, Pediatric Hemolytic Anemia Trial in Barcelona, Madrid (Mitapivat, Mitapivat-matching )

    Recruiting
    • Pediatric Pyruvate Kinase Deficiency
    • Pediatric Hemolytic Anemia
    • Barcelona, Spain
    • +1 more
    Aug 8, 2022

    Pediatric Pyruvate Kinase Deficiency, Pediatric Hemolytic Anemia Trial in Spain, United States (Mitapivat, Mitapivat-matching )

    Recruiting
    • Pediatric Pyruvate Kinase Deficiency
    • Pediatric Hemolytic Anemia
    • Phoenix, Arizona
    • +3 more
    Aug 8, 2022

    Pyruvate Kinase Deficiency Trial in Stanford, Madrid (RP-L301)

    Recruiting
    • Pyruvate Kinase Deficiency
    • RP-L301
    • Stanford, California
    • +2 more
    Sep 22, 2021

    Acquired Pyruvate Kinase Deficiency In Clonal Myeloid Neoplasms

    Not yet recruiting
    • Pyruvate Kinase Deficiency
    • +10 more
    • Blood Draw
    • Boston, Massachusetts
      Massachusetts General Hospital
    May 21, 2021

    Pyruvate Kinase Deficiency Epidemiological Study (PIECE)

    Unknown status
    • Pyruvate Kinase Deficiency
      • Pembroke Pines, Florida
        Intervent Clinical Research Center
      Nov 23, 2020

      Pyruvate Kinase Deficiency, Anemia, Hemolytic Trial in Worldwide (AG-348)

      Completed
      Has Results
      • Pyruvate Kinase Deficiency
      • Anemia, Hemolytic
      • Oakland, California
      • +18 more
      Dec 14, 2021

      Pyruvate Kinase Deficiency, Anemia, Hemolytic Trial in Worldwide (Placebo, AG-348)

      Completed
      Has Results
      • Pyruvate Kinase Deficiency
      • Anemia, Hemolytic
      • Little Rock, Arkansas
      • +45 more
      May 20, 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

          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

                  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

                  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

                    Utilizing Augmented Artificial Intelligence for

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

                    Adult Patients With Inborn Errors of Metabolism in Switzerland

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

                      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

                      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