3 completed, 2 recruiting, 1 active not recruiting, 1 terminated. 3 Phase 2, 1 Phase 1.
| Phase | Trials | Status |
|---|---|---|
| Phase 2 | 3 | Completed 2, Withdrawn 1 |
| Phase 1 | 1 | Terminated 1 |
Follow Carbamoyl-Phosphate Synthase I Deficiency Disease: new trials by email Literature Review of Carbamoyl-Phosphate Synthase I Deficiency Disease trials Research Report on Carbamoyl-Phosphate Synthase I Deficiency Disease
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 | |
| Hepatic Histopathology in Urea Cycle Disorders Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency | Recruiting | Baylor College of Medicine | 70 | 2022-02-24 | 2025-07-20 | |
| 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 | |
| Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia Carbaglu, Placebo - Propionic Acidemia, Type I and/or Type II, Methylmalonic Acidemia | Phase 2 | Completed | Mendel Tuchman | 35 | 2012-09-01 | 2021-02-15 |
| Hepatocyte Transplantation for Liver Based Metabolic Disorders human hepatocyte transplantation, Preparative Radiation Therapy - Metabolic Diseases | Phase 1 | Terminated | Ira Fox | 5 | 2011-03-01 | 2022-12-07 |
| Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate N-carbamylglutamate - Urea Cycle Disorders, Inborn, Inborn Errors of Metabolism | Phase 2 | Withdrawn | Children's Hospital of Philadelphia | 2010-12-01 | 2014-05-29 | |
| Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants Therapeutic Hypothermia, Standard of Care Therapy - Urea Cycle Disorders, Organic Acidemias | Phase 2 | Completed | Uta Lichter-Konecki | 5 | 2007-08-01 | 2015-06-01 |
Ornithine Carbamoyltransferase Deficiency Disease (8) · Citrullinemia (7) · Argininosuccinic Aciduria (6) · Hyperargininemia (5) · Propionic Acidemia (5) · Urea Cycle Disorders, Inborn (5) · Carnitine-Acylcarnitine Translocase Deficiency (4) · Glutaric Acidemia I (4) · Medium chain acyl CoA dehydrogenase deficiency (4) · Methylmalonic acidemia (4) · N-acetyl glutamate synthetase deficiency (4) · Trifunctional Protein Deficiency With Myopathy And Neuropathy (4) · 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (3) · Acidemia, isovaleric (3)
Amino Acid Metabolism, Inborn Errors (9) · Brain Diseases, Metabolic (9) · Brain Diseases, Metabolic, Inborn (9) · Central Nervous System Diseases (9) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (9) · Genetic Diseases, Inborn (9) · Mitochondrial Diseases (9) · Nervous System Diseases (9) · Nutritional and Metabolic Diseases (9) · Brain Diseases (8) · Genetic Diseases, X-Linked (8) · Metabolic Diseases (8) · Metabolism, Inborn Errors (7) · Pathological Conditions, Signs and Symptoms (5) · Pathologic Processes (4)
carglumic acid (2) · Aging (1) · Continuous Renal Replacement Therapy (1) · Cool-Down Exercise (1) · Cryotherapy (1) · Dialysis (1) · Hypothermia, Induced (1) · N-carbamylglutamate (1) · Renal Dialysis (1)
Baylor College of Medicine (1) · Centre Hospitalier Universitaire de Liege (1) · Children's Hospital of Philadelphia (1) · Children's National Research Institute (1) · Ira Fox (1) · Mendel Tuchman (1) · RTI International (1) · Uta Lichter-Konecki (1) · West Kazakhstan Medical University (1)
United States (6) · Belgium (1) · Kazakhstan (1)
Curt Scharfe, MD, PhD (1) · Gulmira M. Zharmakhanova, MD, PhD (1) · Ira J Fox, MD (1) · Laurent Servais (1) · Lindsay Burrage, MD, PhD (1) · Ljubica Caldovic, PhD (1) · Lyazzat M. Syrlybayeva, MD (1) · Marc Yudkoff, MD (1) · Mendel Tuchman, MD (1) · Nicholas Ah Mew, MD (1) · Uta Lichter-Konecki, MD, PhD (1) · Victoria I. Kononets, MD, MS (1)
PMID 18414145, PMID 19660971, PMID 20338795, PMID 20566609, PMID 22789058, PMID 31315600, PMID 33006765, PMID 35142618, PMID 38283151
R01HD058567 (1), R21TR003166 (1)