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Amino Acid Metabolism, Inborn Errors

Showing 1 - 25 of >10,000
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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

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

Patients Who Received hLB-001 Gene Therapy

Recruiting
  • Methylmalonic Acidemia
  • Nashville, Tennessee
  • +1 more
Aug 17, 2022

Methylmalonic Acidemia, Propionic Acidemia Trial in San Francisco, Remote (Registry)

Recruiting
  • Methylmalonic Acidemia
  • Propionic Acidemia
  • Registry
  • San Francisco, California
  • +2 more
Jun 27, 2022

Methylmalonic Acidemia Trial in United States (hLB-001)

Recruiting
  • Methylmalonic Acidemia
  • hLB-001
  • Atlanta, Georgia
  • +3 more
Aug 16, 2022

Carbaglu® for Treatment of MMA and PA in Adults and Pediatrics

Recruiting
  • Hyperammonemia
  • +2 more
  • Carglumic Acid
  • Washington, District of Columbia
  • +1 more
Jun 30, 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

AADC Deficiency Trial in San Francisco, Columbus (AAV2-hAADC)

Recruiting
  • AADC Deficiency
  • San Francisco, California
  • +2 more
Jan 14, 2022

Healthy Volunteers, Propionic Acidemia, Methylmalonic Acidemia Trial in Topeka, Pittsburgh, Austin (BBP-671, Placebo)

Recruiting
  • Healthy Volunteers
  • +3 more
  • Topeka, Indiana
  • +2 more
Apr 8, 2022

Methylmalonic Acidemia, Propionic Acidemia Trial in United States (HST5040, Placebo)

Recruiting
  • Methylmalonic Acidemia
  • Propionic Acidemia
  • San Diego, California
  • +10 more
Sep 6, 2022

Methylmalonic Acidemia (MMA), Metabolism, Inborn Errors Trial (mRNA-3704)

Withdrawn
  • Methylmalonic Acidemia (MMA)
  • Metabolism, Inborn Errors
  • mRNA-3704
  • (no location specified)
Nov 10, 2020

Longitudinal Study of Urea Cycle Disorders

Recruiting
  • Brain Diseases, Metabolic, Inborn
  • +2 more
    • Los Angeles, California
    • +15 more
    Apr 12, 2021

    Amino Acid Metabolism, Inborn Errors Trial in Worldwide (Ataluren)

    Terminated
    Has Results
    • Amino Acid Metabolism, Inborn Errors
    • Antwerp, Belgium
    • +8 more
    Jun 22, 2020

    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

        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

        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

          Compound Amino Acid Capsule on Maintenance Hemodialysis Patients

          Not yet recruiting
          • Hemodialysis Complication
            • (no location specified)
            May 15, 2023

            Propionic Acidemia (PA) , Methylmalonic Acidemia (MMA) Trial in Taipei (Carglumic Acid (Carbaglu®))

            Unknown status
            • Propionic Acidemia (PA) , Methylmalonic Acidemia (MMA)
            • Carglumic Acid (Carbaglu®)
            • Taipei, Taiwan
              National Taiwan University Hospital
            Feb 25, 2020

            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

                Adult Patients With Inborn Errors of Metabolism in Switzerland

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

                  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