1 active not recruiting, 1 completed, 1 unknown. .
Follow Isovaleric Acidemia: new trials by email Literature Review of Isovaleric Acidemia trials Research Report on Isovaleric Acidemia
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 | |
| 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 |
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (3) · Acidemia, isovaleric (3) · Argininosuccinic Aciduria (3) · Beta ketothiolase deficiency (3) · Biotinidase Deficiency (3) · Carbamoyl-Phosphate Synthase I Deficiency Disease (3) · Carnitine palmitoyl transferase 1A deficiency (3) · Carnitine palmitoyl transferase 2 deficiency (3) · Carnitine-Acylcarnitine Translocase Deficiency (3) · Citrullinemia (3) · Glutaric Acidemia I (3) · Homocystinuria (3) · Hyperargininemia (3) · Medium chain acyl CoA dehydrogenase deficiency (3) · Ornithine Carbamoyltransferase Deficiency Disease (3)
Amino Acid Metabolism, Inborn Errors (3) · Brain Diseases (3) · Brain Diseases, Metabolic (3) · Brain Diseases, Metabolic, Inborn (3) · Carbohydrate Metabolism, Inborn Errors (3) · Central Nervous System Diseases (3) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (3) · Connective Tissue Diseases (3) · Genetic Diseases, Inborn (3) · Genetic Diseases, X-Linked (3) · Hyperhomocysteinemia (3) · Metabolic Diseases (3) · Mitochondrial Diseases (3) · Multiple Carboxylase Deficiency (3) · Nervous System Diseases (3)
Aging (1)
Centre Hospitalier Universitaire de Liege (1) · RTI International (1) · West Kazakhstan Medical University (1)
Belgium (1) · Kazakhstan (1) · United States (1)
Curt Scharfe, MD, PhD (1) · Gulmira M. Zharmakhanova, MD, PhD (1) · Laurent Servais (1) · Lyazzat M. Syrlybayeva, MD (1) · Victoria I. Kononets, MD, MS (1)