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Lipid Metabolism, Inborn Errors

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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

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

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

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

Pearson Syndrome Natural History Study

Recruiting
  • Pearson Syndrome
  • Single Large Scale Mitochondrial DNA Deletion Syndromes (SLSMDS)
    • Cleveland, Ohio
    • +1 more
    Aug 30, 2021

    Biomarker for Homozygous Familial Hypercholesterolemia (BioHoFH)

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

      Mitochondrial Diseases, Pearson Syndrome Trial in Ramat Gan (CD34+ cells enriched with MNV-BLD)

      Completed
      • Mitochondrial Diseases
      • Pearson Syndrome
      • CD34+ cells enriched with MNV-BLD
      • Ramat Gan, Israel
        Sheba Medical Center Hospital- Tel Hashomer
      Aug 30, 2021

      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

        Pearson Syndrome Trial

        Completed
        • Pearson Syndrome
          • (no location specified)
          Aug 19, 2020

          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

            Pearson Syndrome Trial in United States (EPI-743)

            Terminated
            • Pearson Syndrome
            • Orange, California
            • +3 more
            Nov 16, 2020

            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

                    Children With Metachromatic Leukodystrophy

                    Terminated
                    • Lipid Metabolism Disorders
                    • +13 more
                      • Torrance, California
                      • +13 more
                      Mar 16, 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

                      Inherited Diseases, Caregiving, and Social Networks

                      Completed
                      • Undiagnosed Disease
                      • +4 more
                        • Bethesda, Maryland
                          National Institutes of Health Clinical Center
                        Jan 6, 2023

                        Sitosterolemia Trial in Winnipeg (Ezetimibe)

                        Completed
                        • Sitosterolemia
                        • Winnipeg, Manitoba, Canada
                          Richardson Centre for Functional Foods and Nutraceuticals
                        Jan 29, 2020

                        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

                          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