1 active not recruiting, 1 completed, 1 unknown. 1 Phase 2.
| Phase | Trials | Status |
|---|---|---|
| Phase 2 | 1 | Completed 1 |
Follow Carnitine Palmitoyltransferase II Deficiency: new trials by email Literature Review of Carnitine Palmitoyltransferase II Deficiency trials Research Report on Carnitine Palmitoyltransferase II 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 |
|---|---|---|---|---|---|---|
| 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 | |
| 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 | |
| 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 |
Carnitine palmitoyl transferase 2 deficiency (3) · VLCAD deficiency (3) · 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (2) · 3-methylcrotonyl CoA carboxylase 1 deficiency (2) · Acidemia, isovaleric (2) · Argininosuccinic Aciduria (2) · Beta ketothiolase deficiency (2) · Biotinidase Deficiency (2) · Carbamoyl-Phosphate Synthase I Deficiency Disease (2) · Carnitine palmitoyl transferase 1A deficiency (2) · Carnitine-Acylcarnitine Translocase Deficiency (2) · Citrullinemia (2) · Glutaric Acidemia I (2) · Homocystinuria (2) · Hyperargininemia (2)
Amino Acid Metabolism, Inborn Errors (2) · Brain Diseases (2) · Brain Diseases, Metabolic (2) · Brain Diseases, Metabolic, Inborn (2) · Carbohydrate Metabolism, Inborn Errors (2) · Central Nervous System Diseases (2) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (2) · Connective Tissue Diseases (2) · Genetic Diseases, Inborn (2) · Genetic Diseases, X-Linked (2) · Hyperhomocysteinemia (2) · Metabolic Diseases (2) · Mitochondrial Diseases (2) · Multiple Carboxylase Deficiency (2) · Nervous System Diseases (2)
Aging (1) · Bezafibrate (1)
Copenhagen University Hospital, Rigshospitalet (1) · RTI International (1) · West Kazakhstan Medical University (1)
Denmark (1) · Kazakhstan (1) · United States (1)
Curt Scharfe, MD, PhD (1) · Gulmira M. Zharmakhanova, MD, PhD (1) · Lyazzat M. Syrlybayeva, MD (1) · Victoria I. Kononets, MD, MS (1)