3 recruiting, 1 active not recruiting, 1 terminated, 1 unknown. 1 Phase 1, 1 Phase 2.
| Phase | Trials | Status |
|---|---|---|
| Phase 1 | 1 | Recruiting 1 |
| Phase 2 | 1 | Recruiting 1 |
Follow N-acetyl glutamate synthetase deficiency: new trials by email Literature Review of N-acetyl glutamate synthetase deficiency trials Research Report on N-acetyl glutamate synthetase 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 |
|---|---|---|---|---|---|---|
| Phase 1/2 Study of KRRO-121 in Healthy Volunteers and Patients With UCD KRRO-121, Placebo - Urea Cycle Disorders, Inborn, Urea Cycle Disorders | Phase 1 / Phase 2 | Recruiting | Korro Bio, Inc. | 30 | 2026-09-28 | 2026-10-08 |
| 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 | |
| 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 | |
| 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 (6) · Hyperargininemia (6) · Ornithine Carbamoyltransferase Deficiency Disease (6) · Citrullinemia (5) · Carbamoyl-Phosphate Synthase I Deficiency Disease (4) · Urea Cycle Disorders, Inborn (4) · Carnitine-Acylcarnitine Translocase Deficiency (3) · Glutaric Acidemia I (3) · Medium chain acyl CoA dehydrogenase deficiency (3) · Trifunctional Protein Deficiency With Myopathy And Neuropathy (3) · VLCAD deficiency (3) · 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (2) · 3-methylcrotonyl CoA carboxylase 1 deficiency (2) · Acidemia, isovaleric (2)
Amino Acid Metabolism, Inborn Errors (6) · Brain Diseases (6) · Brain Diseases, Metabolic (6) · Brain Diseases, Metabolic, Inborn (6) · Central Nervous System Diseases (6) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (6) · Genetic Diseases, Inborn (6) · Genetic Diseases, X-Linked (6) · Metabolic Diseases (6) · Nervous System Diseases (6) · Nutritional and Metabolic Diseases (6) · Metabolism, Inborn Errors (5) · Mitochondrial Diseases (4) · Carbohydrate Metabolism, Inborn Errors (2) · Cardiovascular Diseases (2)
Aging (1)
Baylor College of Medicine (1) · Children's National Research Institute (1) · Korro Bio, Inc. (1) · National Human Genome Research Institute (NHGRI) (1) · RTI International (1) · West Kazakhstan Medical University (1)
United States (4) · Australia (1) · Kazakhstan (1)
Curt Scharfe, MD, PhD (1) · Gulmira M. Zharmakhanova, MD, PhD (1) · Lindsay Burrage, MD, PhD (1) · Ljubica Caldovic, PhD (1) · Lyazzat M. Syrlybayeva, MD (1) · Nicholas Ah Mew, MD (1) · Peter J McGuire, M.D. (1) · Victoria I. Kononets, MD, MS (1)
PMID 31315600, PMID 35142618, PMID 38283151
R21TR003166 (1)