12 completed, 3 active not recruiting, 3 recruiting, 3 unknown. 8 Phase 2, 5 Not applicable, 2 Phase 1, 1 Early Phase 1, 1 Phase 3.
Follow VLCAD deficiency: new trials by email Literature Review of VLCAD deficiency trials Research Report on VLCAD deficiency
Tick up to 5 trials to compare them side by side (eligibility, arms, endpoints, adverse events) in a Literature Matrix.
| Trial | Phase | Status | Sponsor | Enrollment | Start | Updated |
|---|---|---|---|---|---|---|
| Investigation of the Treatment of Patients With Mitochondrial Defects by Assisted Reproductive Technology Maternal spindle transfer - Pearson Syndrome, Mitochondria DNA Deletion | Not applicable | Enrolling by invitation | Taipei Fertility Center | 6 | 2025-04-03 | 2026-11-02 |
| Evaluate the Safety and Therapeutic Effects of a Single Intravenous Infusion (IV) of Autologous CD34+ Cells Enriched With Allogenic Placenta-derived Mitochondria in Patients With a Diagnosis of Pearson Syndrome (PS) MNV-201 - Mitochondrial Diseases, Pearson Syndrome | Phase 2 | Recruiting | Minovia Therapeutics Ltd. | 6 | 2023-07-31 | 2026-10-13 |
| A Study to Determine the Effect of Triheptanoin Compared With Even-Chain MCT on MCEs in Pediatric Patients With LC-FAOD Triheptanoin, MCT Oil - Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) | Phase 3 | Active not recruiting | Ultragenyx Pharmaceutical Inc | 69 | 2023-02-28 | 2026-09-17 |
| Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan Obtaining Dry Blood Spots From Healthy Newborns (Aged 1-7 Days), Obtaining Dry Blood Spots From Healthy Children Aged 8 Days - 7 Years, Obtaining Dry Blood Spots From Healthy Children Aged 8-18 Years - Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease | Unknown | West Kazakhstan Medical University | 2250 | 2022-10-03 | 2023-06-18 | |
| Oral Ketones and Exercise Among Patients With Long-chain Fatty Acid Oxidation Disorders Nutritional Ketone Supplement, Isocaloric Placebo Supplement - Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, Carnitine Palmitoyltransferase Deficiency 2 | Early Phase 1 | Completed | Oregon Health and Science University | 5 | 2022-08-01 | 2024-04-02 |
| Long-Chain Fatty Acid Oxidation Disorders Online Disease Monitoring Program No Intervention - Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) | Terminated | Ultragenyx Pharmaceutical Inc | 8 | 2022-07-25 | 2022-11-18 | |
| Long-Chain Fatty Acid Oxidation Disorders In-Clinic Disease Monitoring Program No Intervention - Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) | Active not recruiting | Ultragenyx Pharmaceutical Inc | 150 | 2021-11-30 | 2026-06-03 | |
| SLSMDS Natural History Study Pearson Syndrome, Single Large Scale Mitochondrial DNA Deletion Syndromes (SLSMDS) | Unknown | The Champ Foundation | 30 | 2021-03-16 | 2023-02-08 | |
| Systemic Biomarkers of Brain Injury From Hyperammonemia Urea Cycle Disorder, Organic Acidemia | Recruiting | Children's National Research Institute | 24 | 2020-07-09 | 2024-02-07 | |
| A Study to Evaluate the Safety and Therapeutic Effects of Transplantation of MNV-BM-BLD in Pediatric Patients With Pearson Syndrome CD34+ cells enriched with MNV-BLD - Mitochondrial Diseases, Pearson Syndrome | Phase 1 / Phase 2 | Completed | Minovia Therapeutics Ltd. | 7 | 2019-02-13 | 2021-08-31 |
| Early Check: Expanded Screening in Newborns Confirmatory Testing - Spinal Muscular Atrophy, Fragile X Syndrome | Active not recruiting | RTI International | 30000 | 2018-10-15 | 2026-07-01 | |
| Acute Nutritional Ketosis in VLCAD Deficiency ketone ester drink, exercise, muscle biopsy - VLCAD Deficiency, Fatty Acid Oxidation Defects | Not applicable | Completed | University Medical Center Groningen | 5 | 2016-04-01 | 2018-05-21 |
| Fatty Acid Oxidation Defects and Insulin Sensitivity Intralipid/Heparin, Glycerol/Saline, Hyperinsulinemic euglycemic clamp - Very Long-chain Acyl-CoA Dehydrogenase Deficiency, Trifunctional Protein Deficiency | Not applicable | Completed | Oregon Health and Science University | 41 | 2016-02-01 | 2024-01-30 |
| Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Sugar - Metabolism, Inborn Errors, Lipid Metabolism, Inborn Errors | Not applicable | Unknown | Copenhagen University Hospital, Rigshospitalet | 60 | 2016-01-01 | 2019-10-16 |
| Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Triheptanoin Studies UX007 - Carnitine Palmitoyltransferase (CPT I or CPT II) Deficiency, Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency | Phase 2 | Completed | Ultragenyx Pharmaceutical Inc | 94 | 2014-12-09 | 2023-08-01 |
| Phase 2 Study of EPI-743 in Children With Pearson Syndrome EPI-743 - Pearson Syndrome | Phase 2 | Terminated | Edison Pharmaceuticals Inc | 2 | 2014-08-31 | 2020-11-18 |
| Natural History of Pearson Syndrome Pearson Syndrome | Completed | Sumit Parikh | 11 | 2014-03-01 | 2025-11-03 | |
| A Study of UX007 (Triheptanoin) in Participants With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) UX007 - Long-chain Fatty Acid Oxidation Disorders (LC-FAOD), Carnitine Palmitoyltransferase (CPT II) Deficiency | Phase 2 | Completed | Ultragenyx Pharmaceutical Inc | 29 | 2014-02-06 | 2021-02-11 |
| Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation Disorder Triheptanoin - Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency, Carnitine Palmitoyltransferase 2 (CPT2) Deficiency | Phase 2 | Completed | Oregon Health and Science University | 32 | 2011-09-01 | 2017-03-23 |
| Effect of Bezafibrate on Muscle Metabolism in Patients With Fatty Acid Oxidation Defects Bezafibrate, Placebo - Carnitine Palmitoyltransferase II Deficiency, Very Long Chain Acyl Coa Dehydrogenase Deficiency | Phase 2 | Completed | Copenhagen University Hospital, Rigshospitalet | 12 | 2009-10-01 | 2012-05-30 |
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Trifunctional Protein Deficiency With Myopathy And Neuropathy (11) · Carnitine palmitoyl transferase 2 deficiency (6) · Carnitine-Acylcarnitine Translocase Deficiency (6) · Medium chain acyl CoA dehydrogenase deficiency (5) · Mitochondrial Diseases (4) · Argininosuccinic Aciduria (3) · Barth Syndrome (3) · Carbamoyl-Phosphate Synthase I Deficiency Disease (3) · Citrullinemia (3) · Glutaric Acidemia I (3) · Hyperargininemia (3) · Metabolism, Inborn Errors (3) · N-acetyl glutamate synthetase deficiency (3) · Ornithine Carbamoyltransferase Deficiency Disease (3)
Metabolic Diseases (11) · Nutritional and Metabolic Diseases (11) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (8) · Genetic Diseases, Inborn (8) · Brain Diseases (6) · Brain Diseases, Metabolic (6) · Brain Diseases, Metabolic, Inborn (6) · Central Nervous System Diseases (6) · Genetic Diseases, X-Linked (6) · Nervous System Diseases (6) · Lipid Metabolism Disorders (5) · Mitochondrial Diseases (5) · Amino Acid Metabolism, Inborn Errors (4) · Carbohydrate Metabolism, Inborn Errors (4) · Cardiovascular Diseases (4)
triheptanoin (6) · Aging (1) · Bezafibrate (1) · Biopsy (1) · Diet, Fat-Restricted (1) · Diet, High-Protein (1) · Diet, High-Protein Low-Carbohydrate (1) · Exercise (1) · Flow Cytometry (1) · Glycerol (1) · Heparin (1) · Immunologic Techniques (1) · Magnetic Resonance Imaging (1) · Polymerase Chain Reaction (1) · Positron-Emission Tomography (1)
Ultragenyx Pharmaceutical Inc (6) · Oregon Health and Science University (4) · Copenhagen University Hospital, Rigshospitalet (2) · Minovia Therapeutics Ltd. (2) · Assistance Publique - Hôpitaux de Paris (1) · Children's National Research Institute (1) · Edison Pharmaceuticals Inc (1) · Jerry Vockley, MD, PhD (1) · LMU Klinikum (1) · RTI International (1) · Sumit Parikh (1) · Taipei Fertility Center (1) · The Champ Foundation (1) · University Hospital Freiburg (1) · University Medical Center Groningen (1)
United States (12) · Denmark (3) · Germany (3) · Austria (2) · Czechia (2) · Israel (2) · Italy (2) · Netherlands (2) · Spain (2) · United Kingdom (2) · Belgium (1) · Canada (1) · France (1) · Ireland (1) · Japan (1)
Curt Scharfe, MD, PhD (1) · Gulmira M. Zharmakhanova, MD, PhD (1) · Guy Touati, PU-PH (1) · Jeroen AL Jeneson, PhD (1) · Jerry Vockley, MD, PhD (1) · Karen L Madsen, MD (1) · Ljubica Caldovic, PhD (1) · Lyazzat M. Syrlybayeva, MD (1) · Marni Falk, MD (1) · Matthew Klein, MD, FACS (1) · Melanie B Gillingham, PhD (1) · Michelangelo Mancuso, Prof. Dr. (1) · Nicholas Ah Mew, MD (1)
PMID 24786393, PMID 25425683, PMID 28189603, PMID 28871440, PMID 30740733, PMID 30990523, PMID 31315600, PMID 31492716, PMID 31955429, PMID 33487279, PMID 35142618, PMID 37276053, PMID 38283151
2016 (1), 2023 (1), R21TR003166 (1)