2 active not recruiting, 1 available, 1 completed, 1 recruiting. .
Follow Carnitine-Acylcarnitine Translocase Deficiency: new trials by email Literature Review of Carnitine-Acylcarnitine Translocase Deficiency trials Research Report on Carnitine-Acylcarnitine Translocase 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| Expanded Access to Triheptanoin Triheptanoin - Long Chain Fatty Acid Oxidation Disorders | Available | Ultragenyx Pharmaceutical Inc | 2026-07-31 |
Trifunctional Protein Deficiency With Myopathy And Neuropathy (7) · VLCAD deficiency (6) · Argininosuccinic Aciduria (4) · Carbamoyl-Phosphate Synthase I Deficiency Disease (4) · Citrullinemia (4) · Glutaric Acidemia I (4) · Hyperargininemia (4) · Medium chain acyl CoA dehydrogenase deficiency (4) · Ornithine Carbamoyltransferase Deficiency Disease (4) · 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (3) · Acidemia, isovaleric (3) · Beta ketothiolase deficiency (3) · Biotinidase Deficiency (3) · Carnitine palmitoyl transferase 1A deficiency (3)
Amino Acid Metabolism, Inborn Errors (4) · Brain Diseases (4) · Brain Diseases, Metabolic (4) · Brain Diseases, Metabolic, Inborn (4) · Central Nervous System Diseases (4) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (4) · Genetic Diseases, Inborn (4) · Genetic Diseases, X-Linked (4) · Metabolic Diseases (4) · Mitochondrial Diseases (4) · Nervous System Diseases (4) · Nutritional and Metabolic Diseases (4) · Carbohydrate Metabolism, Inborn Errors (3) · Cardiovascular Diseases (3) · Connective Tissue Diseases (3)
Aging (1) · triheptanoin (1)
Ultragenyx Pharmaceutical Inc (3) · Centre Hospitalier Universitaire de Liege (1) · Children's National Research Institute (1) · RTI International (1) · West Kazakhstan Medical University (1)
United States (4) · Belgium (1) · Canada (1) · Kazakhstan (1)
Curt Scharfe, MD, PhD (1) · Gulmira M. Zharmakhanova, MD, PhD (1) · Laurent Servais (1) · Ljubica Caldovic, PhD (1) · Lyazzat M. Syrlybayeva, MD (1) · Nicholas Ah Mew, MD (1) · Victoria I. Kononets, MD, MS (1)
PMID 31315600, PMID 35142618, PMID 38283151
R21TR003166 (1)