2 completed, 1 active not recruiting, 1 recruiting, 1 unknown. 1 Phase 1, 1 Phase 2.
| Phase | Trials | Status |
|---|---|---|
| Phase 1 | 1 | Completed 1 |
| Phase 2 | 1 | Completed 1 |
Follow Multiple Carboxylase Deficiency: new trials by email Literature Review of Multiple Carboxylase Deficiency trials Research Report on Multiple Carboxylase 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 | |
| Neonatal Screening of Biotinidase Deficiency: Genotype-phenotype Correlation and Clinical Follow-up Biotinidase Deficiency | Recruiting | IRCCS Azienda Ospedaliero-Universitaria di Bologna | 180 | 2021-04-21 | 2026-03-12 | |
| 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 | |
| Study of ORL-1B in Patients With Biotinidase Deficiency ORL-1B - Biotinidase Deficiency | Phase 1 / Phase 2 | Completed | Orpha Labs | 20 | 2013-08-31 | 2018-01-17 |
Biotinidase Deficiency (5) · 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (3) · Acidemia, isovaleric (3) · Argininosuccinic Aciduria (3) · Beta ketothiolase 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 (5) · Carbohydrate Metabolism, Inborn Errors (5) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (5) · Genetic Diseases, Inborn (5) · Metabolic Diseases (5) · Nutritional and Metabolic Diseases (5) · Metabolism, Inborn Errors (4) · Brain Diseases (3) · Brain Diseases, Metabolic (3) · Brain Diseases, Metabolic, Inborn (3) · Central Nervous System Diseases (3) · Connective Tissue Diseases (3) · Genetic Diseases, X-Linked (3) · Hyperhomocysteinemia (3)
Aging (1)
Centre Hospitalier Universitaire de Liege (1) · IRCCS Azienda Ospedaliero-Universitaria di Bologna (1) · Orpha Labs (1) · RTI International (1) · West Kazakhstan Medical University (1)
Belgium (1) · Italy (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) · Rita Ortolano, MD (1) · Victoria I. Kononets, MD, MS (1)