4 completed, 3 recruiting, 3 unknown, 2 withdrawn. 5 Not applicable, 4 Phase 2, 1 Phase 1.
| Phase | Trials | Status |
|---|---|---|
| Not applicable | 5 | Completed 2, Unknown 2, Recruiting 1 |
| Phase 2 | 4 | Withdrawn 2, Recruiting 1, Suspended 1 |
| Phase 1 | 1 | Completed 1 |
Follow Medium chain acyl CoA dehydrogenase deficiency: new trials by email Literature Review of Medium chain acyl CoA dehydrogenase deficiency trials Research Report on Medium chain acyl CoA dehydrogenase 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 |
|---|---|---|---|---|---|---|
| Study of Triheptanoin for the Prevention of Hypoglycemia in Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Triheptanoin - Medium-chain Acyl-CoA Dehydrogenase Deficiency | Phase 2 | Withdrawn | Jerry Vockley, MD, PhD | 2026-08-01 | 2026-07-02 | |
| Study to Evaluate the Use of Triheptanoin in Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Triheptanoin - Medium-chain Acyl-CoA Dehydrogenase Deficiency | Phase 2 | Withdrawn | Jerry Vockley, MD, PhD | 2026-07-01 | 2026-07-02 | |
| Study of Sodium Phenylbutyrate (ACER-001) for the Treatment of Pediatric and Adults Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Sodium phenylbutyrate - Medium-chain Acyl-CoA Dehydrogenase Deficiency | Phase 2 | Recruiting | Jerry Vockley, MD, PhD | 24 | 2025-06-30 | 2026-10-21 |
| High Intensity Exercise in Children With MCADD Cardiopulmonary exercise test (CPET), High-intensity circuit training - Medium Chain Acyl CoA Dehydrogenase Deficiency | Not applicable | Completed | University Hospital, Ghent | 8 | 2025-01-20 | 2026-03-23 |
| Metabolic Effects of Medium-Chain Fatty Acids in Patients With Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Healthy Individuals Medium-Chain Fatty Acid (MCFA), Long-Chain Fatty Acid (LCFA) - Medium-chain Acyl-CoA Dehydrogenase Deficiency | Not applicable | Recruiting | University of Copenhagen | 30 | 2024-10-18 | 2026-08-14 |
| Study of Sodium Phenylbutyrate (ACER-001) for the Treatment of Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Sodium phenylbutyrate - Medium-chain Acyl-CoA Dehydrogenase Deficiency | Phase 2 | Suspended | Jerry Vockley, MD, PhD | 24 | 2024-04-01 | 2026-07-06 |
| 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 | |
| Baby Detect : Genomic Newborn Screening Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1 | Completed | Centre Hospitalier Universitaire de Liege | 6824 | 2022-09-01 | 2025-08-12 | |
| 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 | |
| Fasting Tolerance in MCADD-infants Fasting test - Mcad Deficiency | Not applicable | Unknown | University Medical Center Groningen | 20 | 2019-05-15 | 2019-05-14 |
| 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 | |
| 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 |
| Use of Ravicti™ in Patients With MCAD Deficiency With the 985A>G (K304E) Mutation Ravicti - Medium-chain Acyl-CoA Dehydrogenase (MCAD) Deficiency | Phase 1 | Completed | University of Pittsburgh | 4 | 2013-06-01 | 2017-09-25 |
Trifunctional Protein Deficiency With Myopathy And Neuropathy (6) · VLCAD deficiency (5) · Argininosuccinic Aciduria (4) · Carbamoyl-Phosphate Synthase I Deficiency Disease (4) · Carnitine palmitoyl transferase 2 deficiency (4) · Carnitine-Acylcarnitine Translocase Deficiency (4) · Citrullinemia (4) · Glutaric Acidemia I (4) · Hyperargininemia (4) · Ornithine Carbamoyltransferase Deficiency Disease (4) · 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (3) · Acidemia, isovaleric (3) · Beta ketothiolase deficiency (3) · Biotinidase Deficiency (3)
Amino Acid Metabolism, Inborn Errors (5) · Brain Diseases (5) · Brain Diseases, Metabolic (5) · Brain Diseases, Metabolic, Inborn (5) · Central Nervous System Diseases (5) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (5) · Genetic Diseases, Inborn (5) · Metabolic Diseases (5) · Mitochondrial Diseases (5) · Nervous System Diseases (5) · Nutritional and Metabolic Diseases (5) · Genetic Diseases, X-Linked (4) · Carbohydrate Metabolism, Inborn Errors (3) · Cardiovascular Diseases (3) · Connective Tissue Diseases (3)
4-phenylbutyric acid (2) · triheptanoin (2) · Aging (1) · Exercise Test (1) · Glycerol (1) · Heparin (1) · Sodium Chloride (1) · Sugars (1) · glycerol phenylbutyrate (1) · soybean oil, phospholipid emulsion (1)
Jerry Vockley, MD, PhD (4) · Centre Hospitalier Universitaire de Liege (1) · Children's National Research Institute (1) · Copenhagen University Hospital, Rigshospitalet (1) · Oregon Health and Science University (1) · RTI International (1) · University Hospital, Ghent (1) · University Medical Center Groningen (1) · University of Copenhagen (1) · University of Pittsburgh (1) · West Kazakhstan Medical University (1)
United States (8) · Belgium (2) · Denmark (2) · Kazakhstan (1) · Netherlands (1)
Gerard Vockley, MD, PhD (3) · Andreas M Fritzen, Associate Professor (1) · Curt Scharfe, MD, PhD (1) · Gerard L Vockley, MD, PhD (1) · Gerard Vockley (1) · Gulmira M. Zharmakhanova, MD, PhD (1) · Karen L Madsen, MD (1) · Laurent Servais (1) · Ljubica Caldovic, PhD (1) · Lyazzat M. Syrlybayeva, MD (1) · Nicholas Ah Mew, MD (1) · Patrick Verloo, MD (1) · Terry Derks, MD, PhD (1) · Victoria I. Kononets, MD, MS (1)
PMID 30990523, PMID 31315600, PMID 31492716, PMID 35142618, PMID 38283151
R21TR003166 (1)