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- Conditions
- Metabolic Diseases, Mitochondrial Diseases, Nutritional and Metabolic Diseases, +2 more
- Locations
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- Sheba Medical Center Ramat Gan, Israel
NCT04602325
- Conditions
- Amino Acid Metabolism, Inborn Errors, Argininosuccinic Aciduria, Brain Diseases, +38 more
- Locations
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- Children's National Research Institute Washington D.C., District of Columbia, United States
Completed
Natural History of Pearson Syndrome
NCT02327364
- Conditions
- Pearson Syndrome, VLCAD deficiency
- Locations
-
Not specified
NCT05411835
- Conditions
- Carnitine Palmitoyltransferase Deficiency 2, Carnitine palmitoyl transferase 2 deficiency, Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, +4 more
- Locations
-
- Oregon Health & Science University Portland, Oregon, United States
NCT02517307
- Conditions
- Carnitine Palmitoyltransferase II Deficiency, Late-Onset, Carnitine Palmitoyltransferase II Deficiency, Myopathic, Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, +7 more
- Locations
-
- Oregon Health & Science University Portland, Oregon, United States
NCT02214160
- Conditions
- Carnitine Palmitoyltransferase (CPT I or CPT II) Deficiency, Carnitine-acylcarnitine Translocase (CACT) Deficiency, Long-chain 3-hydroxy-acyl-CoA Dehydrogenase (LCHAD) Deficiency, +3 more
- Locations
-
- University of California San Francisco San Francisco, California, United States
- Children's National Health System Washington D.C., District of Columbia, United States
- University of South Florida Tampa, Florida, United States
- Ann & Robert H. Lurie Children's Hospital of Chicago Chicago, Illinois, United States
NCT03384420
- Conditions
- Disease Attributes, Metabolic Diseases, Mitochondrial Diseases, +6 more
- Locations
-
- Sheba Medical Center Hospital- Tel Hashomer Ramat Gan, Israel
NCT01886378
- Conditions
- Carnitine Palmitoyltransferase (CPT II) Deficiency, Long-chain Fatty Acid Oxidation Disorders (LC-FAOD), Longchain 3-hydroxy-acyl-CoA Dehydrogenase (LCHAD) Deficiency, +3 more
- Locations
-
- Children's National Medical Center Washington D.C., District of Columbia, United States
- University of Southern Florida Tampa, Florida, United States
- Ann & Robert H. Lurie Children's Hospital of Chicago Chicago, Illinois, United States
- Boston Children's Hospital Boston, Massachusetts, United States
NCT01494051
- Conditions
- Carnitine Palmitoyltransferase 2 Deficiency, Carnitine palmitoyl transferase 2 deficiency, Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, +4 more
- Locations
-
Not specified
NCT03531554
- Conditions
- Fatty Acid Oxidation Defects, VLCAD Deficiency, VLCAD deficiency
- Locations
-
- Academic Medical Center Amsterdam, North Holland, Netherlands
- Dept of Neuroscience/ Neuroimaging Center Groningen, Netherlands
NCT01379625
- Conditions
- Carnitine Palmitoyltransferase 2 (CPT2) Deficiency, Long-chain 3 hydroxyacylCoA Dehydrogenase (LCHAD) Deficiency, Mitochondrial Trifunctional Protein (TFP) Deficiency, +2 more
- Locations
-
- Oregon Health & Science University Portland, Oregon, United States
- University of Pittsburgh Pittsburgh, Pennsylvania, United States
Completed
Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment
NCT00499070
- Conditions
- Anemia, Anemia, Aplastic, Anemia, Hypoplastic, Congenital, +28 more
- Locations
-
- St. Anna Children's Hospital Vienna, Austria
- Ghent University Ghent, Belgium
- University Hospital Motol Prague, Czechia
- Arhus Universitetshospital - Skejby Aarhus, Denmark
NCT00983788
- Conditions
- Carnitine Palmitoyltransferase II Deficiency, Carnitine palmitoyl transferase 2 deficiency, VLCAD deficiency, +1 more
- Locations
-
- Neuromusculare Research Unit, Rigshospitalet Copenhagen, Denmark
NCT00328159
- Conditions
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Genetic Diseases, Inborn, Inborn Errors of Metabolism, +4 more
- Locations
-
- Necker University Hospital - Metabolism Unit Paris, France
Active, Not Recruiting
A Study to Determine the Effect of Triheptanoin Compared With Even-Chain MCT on MCEs in Pediatric Patients With LC-FAOD
NCT05933200
- Conditions
- Long-chain Fatty Acid Oxidation Disorders (LC-FAOD), VLCAD deficiency
- Locations
-
- General University Hospital in Prague-GUH (Všeobecná fakultní nemocnice v Praze- VFN) Prague, Czechia
- Universitätsklinikum Freiburg Freiburg im Breisgau, Germany
- Juntendo University Hospital Bunkyo City, Tokyo, Japan
- The Jikei University Hospital Minato, Tokyo, Japan
Active, Not Recruiting
Early Check: Expanded Screening in Newborns
NCT03655223
- Conditions
- 17 Alpha-Hydroxylase Deficiency, 3-Hydroxy-3-Methylglutaric Aciduria, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, +456 more
- Locations
-
- RTI International Research Triangle Park, North Carolina, United States
Active, Not Recruiting
Long-Chain Fatty Acid Oxidation Disorders In-Clinic Disease Monitoring Program
NCT04632953
- Conditions
- Carnitine-Acylcarnitine Translocase Deficiency, Long-chain Fatty Acid Oxidation Disorders (LC-FAOD), Trifunctional Protein Deficiency With Myopathy And Neuropathy, +1 more
- Locations
-
- Phoenix Children's Hospital Phoenix, Arizona, United States
- University of California San Francisco San Francisco, California, United States
- Children's Hospital of Colorado Aurora, Colorado, United States
- University of South Florida Tampa, Florida, United States