1 active not recruiting, 1 terminated, 1 unknown. .
Follow N-acetylglutamate Synthase Deficiency: new trials by email Literature Review of N-acetylglutamate Synthase Deficiency trials Research Report on N-acetylglutamate Synthase 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 | |
| The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity Argininosuccinic Aciduria, Carbamoyl-Phosphate Synthase I Deficiency | Terminated | National Human Genome Research Institute (NHGRI) | 4 | 2011-08-08 | 2019-12-09 |
Argininosuccinic Aciduria (3) · Citrullinemia (3) · Hyperargininemia (3) · N-acetyl glutamate synthetase deficiency (3) · Ornithine Carbamoyltransferase Deficiency Disease (3) · 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (2) · 3-methylcrotonyl CoA carboxylase 1 deficiency (2) · Acidemia, isovaleric (2) · Beta ketothiolase deficiency (2) · Biotinidase Deficiency (2) · Carbamoyl-Phosphate Synthase I Deficiency Disease (2) · Carnitine palmitoyl transferase 1A deficiency (2) · Carnitine palmitoyl transferase 2 deficiency (2) · Carnitine-Acylcarnitine Translocase Deficiency (2) · Glutaric Acidemia I (2)
Amino Acid Metabolism, Inborn Errors (3) · Brain Diseases (3) · Brain Diseases, Metabolic (3) · Brain Diseases, Metabolic, Inborn (3) · Central Nervous System Diseases (3) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (3) · Genetic Diseases, Inborn (3) · Genetic Diseases, X-Linked (3) · Metabolic Diseases (3) · Nervous System Diseases (3) · Nutritional and Metabolic Diseases (3) · Carbohydrate Metabolism, Inborn Errors (2) · Connective Tissue Diseases (2) · Hyperhomocysteinemia (2) · Metabolism, Inborn Errors (2)
Aging (1)
National Human Genome Research Institute (NHGRI) (1) · RTI International (1) · West Kazakhstan Medical University (1)
United States (2) · Kazakhstan (1)
Curt Scharfe, MD, PhD (1) · Gulmira M. Zharmakhanova, MD, PhD (1) · Lyazzat M. Syrlybayeva, MD (1) · Peter J McGuire, M.D. (1) · Victoria I. Kononets, MD, MS (1)