Lipid Metabolism, Inborn Errors
Showing 1 - 25 of 9,250
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, PennsylvaniaUniversity of Pennsylvania
Jul 14, 2022
Medium-chain Acyl-CoA Dehydrogenase Deficiency Trial in Pittsburgh (Triheptanoin)
Recruiting
- Medium-chain Acyl-CoA Dehydrogenase Deficiency
-
Pittsburgh, PennsylvaniaUPMC 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, PennsylvaniaUPMC 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, IsraelSheba 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, IsraelSheba Medical Center Hospital- Tel Hashomer
Aug 30, 2021
Metabolism, Infection, and Immunity in Inborn Errors of
Recruiting
- Oxidative Phosphorylation Deficiencies
- +3 more
-
Bethesda, MarylandNational 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, SwitzerlandUniversity 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, MarylandNational 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, MinnesotaMayo 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, SwitzerlandLausanne 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, SloveniaUniversity Children's Hospital, University Medical Centre Ljublj
Nov 1, 2022
Inherited Diseases, Caregiving, and Social Networks
Completed
- Undiagnosed Disease
- +4 more
-
Bethesda, MarylandNational Institutes of Health Clinical Center
Jan 6, 2023
Sitosterolemia Trial in Winnipeg (Ezetimibe)
Completed
- Sitosterolemia
-
Winnipeg, Manitoba, CanadaRichardson 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, PakistanAga Khan University Hospital
Jun 29, 2022
Adult Patients With Inborn Errors of Metabolism in Switzerland
Completed
- Inborn Errors of Metabolism
-
Lausanne, Vaud, SwitzerlandLausanne 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