1 active not recruiting, 1 completed, 1 recruiting. 1 Phase 2.
| Phase | Trials | Status |
|---|---|---|
| Phase 2 | 1 | Completed 1 |
Follow Methylmalonic acidemia with homocystinuria: new trials by email Literature Review of Methylmalonic acidemia with homocystinuria trials Research Report on Methylmalonic acidemia with homocystinuria
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 |
|---|---|---|---|---|---|---|
| Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases. collection of data - Inherited Disease, Rare Diseases | Recruiting | Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta | 100 | 2021-03-01 | 2024-11-19 | |
| 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 | |
| EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment Epi-743, Placebo supplementation - Methylmalonic Aciduria and Homocystinuria,Cblc Type, Genetic Disease | Phase 2 | Completed | Bambino Gesù Hospital and Research Institute | 30 | 2013-01-01 | 2017-04-25 |
Genetic Diseases, Inborn (2) · Hepatolenticular Degeneration (2) · Leukodystrophy, Globoid Cell (2) · Leukodystrophy, Metachromatic (2) · Xanthomatosis, Cerebrotendinous (2) · 2-Hydroxyglutaricaciduria (1) · 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (1) · 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (1) · 3-methylcrotonyl CoA carboxylase 1 deficiency (1) · 3-methylcrotonyl CoA carboxylase 2 deficiency (1) · Acidemia, isovaleric (1) · Acrodermatitis enteropathica (1) · Adenine phosphoribosyltransferase deficiency (1) · Adrenal hyperplasia, congenital, type 5 (1)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (3) · Basal Ganglia Diseases (2) · Brain Diseases (2) · Brain Diseases, Metabolic (2) · Brain Diseases, Metabolic, Inborn (2) · Central Nervous System Diseases (2) · Demyelinating Diseases (2) · Digestive System Diseases (2) · Disease Attributes (2) · Endocrine System Diseases (2) · Eye Diseases (2) · Genetic Diseases, X-Linked (2) · Hereditary Central Nervous System Demyelinating Diseases (2) · Heredodegenerative Disorders, Nervous System (2) · Intellectual Disability (2)
Bambino Gesù Hospital and Research Institute (1) · Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta (1) · RTI International (1)
Italy (2) · United States (1)
Carlo Dionisi-Vici, MD (1) · Curt Scharfe, MD, PhD (1) · Daniela Ricci, MD,PhD (1) · Diego Martinelli, MD, PhD (1) · Giancarlo Iarossi, MD (1)