Metabolism, Inborn Errors
Showing 1 - 25 of 6,907
Orphan Drugs for Inherited Metabolic Diseases
Recruiting
- Inborn Errors of Metabolism
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Lausanne, Vaud, SwitzerlandLausanne University Hospital
Apr 19, 2023
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
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
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Vienna, Austria
- +7 more
Nov 9, 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
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Philadelphia, PennsylvaniaUniversity of Pennsylvania
Jul 14, 2022
Inherited Diseases, Caregiving, and Social Networks
Completed
- Undiagnosed Disease
- +4 more
-
Bethesda, MarylandNational 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
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Karachi, Sindh, PakistanAga Khan University Hospital
Jun 29, 2022
Large-Scale Metabolomic Profiling for Diagnosis of Inborn Errors
Enrolling by invitation
- Congenital Disorders of Glycosylation
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Rochester, MinnesotaMayo Clinic in Rochester
Jan 8, 2022
COVID-19 and Hereditary Metabolic Diseases
Recruiting
- Covid19
- Metabolism, Inborn Errors
-
Lille, FranceHop Claude Huriez Chu Lille
Feb 28, 2022
Carbohydrate Intolerance Trial in Springfield (Low-FODMAP diet group (LFD), Low Sugar diet group (LAS))
Recruiting
- Carbohydrate Intolerance
- Low-FODMAP diet group (LFD)
- Low Sugar diet group (LAS)
-
Springfield, OregonOregon Health and Science University
Sep 21, 2023
Metabolism, Infection, and Immunity in Inborn Errors of
Recruiting
- Oxidative Phosphorylation Deficiencies
- +3 more
-
Bethesda, MarylandNational Institutes of Health Clinical Center
Jan 18, 2023
Biomarkers for Inborn Errors of Metabolism
Completed
- Inborn Errors of Metabolism
- Biomarker
-
Tirana, Albania
- +12 more
Mar 23, 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
Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) Trial (Triheptanoin)
Available
- Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)
- (no location specified)
Nov 22, 2022
Brain Metabolism Observed at 7 Tesla
Recruiting
- Glut1 Deficiency Syndrome 1
- +6 more
- Magnetic resonance imaging
-
Dallas, TexasUT Southwestern Medical Center
Aug 24, 2022
Adult Patients With Inborn Errors of Metabolism in Switzerland
Completed
- Inborn Errors of Metabolism
-
Lausanne, Vaud, SwitzerlandLausanne University Hospitals
Jul 19, 2021
A Non-Interventional Post-Authorization Study of Carbaglu for
Enrolling by invitation
- Hyperammonemia
- +2 more
- carglumic acid
-
Indianapolis, IndianaRiley Children's Hospital
Apr 24, 2023
Inborn Errors of Cholesterol Synthesis and Related Disorders
Recruiting
- Lysosomal Storage Disease
- Cholesterol Metabolism
-
Bethesda, MarylandNational Institutes of Health Clinical Center
Dec 28, 2022
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
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Ramat Gan, IsraelSheba Medical Center
Aug 24, 2023
Methylmalonic Acidemia (MMA) Trial run by the Selecta Biosciences, Inc. (SEL-302)
Recruiting
- Methylmalonic Acidemia (MMA)
-
Bethesda, MarylandNational Human Genome Research Institute, National Institutes of
Mar 9, 2023
Cardiac Manifestation and Inherited Metabolic Diseases
Recruiting
- Metabolism, Inborn Errors
-
Lausanne, Vaud, SwitzerlandLausanne University Hospital
Aug 7, 2021
