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Inborn Error

Showing 1 - 25 of 916
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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

        HFI Trial in Maastricht (PF-06801591)

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

        Pattern of Metabolic Causes of Neonatal Hypoglycemia

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

          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

          Acute Neonatal Hyperammonaemia

          Recruiting
          • Hyperammonemic Encephalopathy
          • user-friendly and widely applicable algorithm to tailor the treatment of acute neonatal hyperammonemia
          • Ghent, Belgium
            Ghent University Hospital - Department of Paediatric Nephrology
          Mar 1, 2023

          Study of Smith-Lemli-Opitz Syndrome

          Completed
          • Smith-Lemli-Opitz Syndrome
          • Cholesterol Suspension
          • +2 more
          • Bethesda, Maryland
            National Institutes of Health Clinical Center
          Jan 25, 2023

          Incidence of Metabolic Disorders in Neonatal Convulsions

          Not yet recruiting
          • Neonatal Convulsions
          • MRI
          • (no location specified)
          Nov 6, 2023

          Study of Alkaptonuria

          Recruiting
          • Alkaptonuria
            • Bethesda, Maryland
              National Institutes of Health Clinical Center
            Jan 25, 2023

            Identification of Acute Intermittent Porphyria Modifying Genes

            Not yet recruiting
            • Acute Intermittent Porphyria (AIP)
              • New York, New York
                Icahn School of Medicine at Mount Sinai
              Aug 12, 2022

              Phenylketonurias Trial in Culver City (SYNB1934, Placebo)

              Recruiting
              • Phenylketonurias
              • Culver City, California
                Science 37
              Mar 16, 2023

              Natural History Clinical Study in Adult PKU

              Recruiting
              • Phenylketonurias
              • PKU
                • Los Angeles, California
                • +8 more
                Jun 28, 2022

                Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV A Trial in San Francisco (There is no intervention)

                Recruiting
                • Mucopolysaccharidosis I
                • +7 more
                • There is no intervention
                • San Francisco, California
                  University of California San Francisco
                Nov 9, 2022

                PKU Trial in United Kingdom (PKU UP)

                Not yet recruiting
                • PKU
                • PKU UP
                • Belfast, United Kingdom
                • +3 more
                Aug 15, 2023

                Multi-system Inflammatory Syndrome in Children and Pediatric

                Recruiting
                • COVID-19
                • +6 more
                • Saliva collection at home
                • Leiden, Zuid-Holland, Netherlands
                  Leiden University Medical Center
                Feb 9, 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

                Dry Blood Spot Screening Test for Neonatal Cholestasis Patients

                Enrolling by invitation
                • Cholestasis in Newborn Infant
                • Biliary Atresia
                • Dry blood spot screening
                • Taipei, Taiwan
                  National Taiwan University Hospital
                May 12, 2021

                Language Disorders in Children Trial in Cairo (Methylprednisolone and or prednisolone)

                Completed
                • Language Disorders in Children
                • Methylprednisolone and or prednisolone
                • Cairo, Egypt
                  Omnia Alaa Mahsoub
                Aug 2, 2022

                Unraveling Genetics of HypoPhosPhatasia (HPP Genetics)

                Completed
                • Hypophosphatasia
                  • Würzburg, Germany
                    Universität Würzburg - Klinische Studieneinheit, Orthopädische K
                  Dec 28, 2021

                  Bile Acid Synthesis Defect Trial in Cincinnati (Cholic Acid)

                  Completed
                  Has Results
                  • Bile Acid Synthesis Defect
                  • Cholic Acid
                  • Cincinnati, Ohio
                    Cincinnati Children's Hospital Medical Center
                  Aug 11, 2020

                  Sphingolipidoses, Enzyme Deficiency Trial in San Francisco (no intervention)

                  Recruiting
                  • Sphingolipidoses
                  • Enzyme Deficiency
                  • no intervention
                  • San Francisco, California
                    University of California San Francisco
                  Jul 1, 2022

                  Classic Galactosemia, Speech Disorders in Children, Language Disorders in Children Trial in Tempe (Babble Boot Camp)

                  Recruiting
                  • Classic Galactosemia
                  • +2 more
                  • Babble Boot Camp
                  • Tempe, Arizona
                    Arizona State University
                  Feb 15, 2022

                  Homocystinuria Trial in High Point (SYNB1353)

                  Recruiting
                  • Homocystinuria
                  • High Point, North Carolina
                    High Point Clinical Trials Center
                  Jul 13, 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