32 terminated. 32 Phase 3, 6 Phase 2.
| Phase | Trials | Status |
|---|---|---|
| Phase 3 | 32 | Terminated 32 |
| Phase 2 | 6 | Terminated 6 |
Follow Metabolism, Inborn Errors: new trials by email Literature Review of Metabolism, Inborn Errors trials Research Report on Metabolism, Inborn Errors
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 |
|---|---|---|---|---|---|---|
| Open-label Study to Evaluate Metreleptin in Children Under 6 Years of Age With Generalised Lipodystrophy Metreleptin - Generalized Lipodystrophy | Phase 3 | Terminated | Amryt Pharma | 1 | 2025-05-23 | 2026-07-22 |
| Extension Study of ABP-671 in Participants With Gout ABP-671, Allopurinol - Gout | Phase 2 / Phase 3 | Terminated | Atom Therapeutics Co., Ltd | 43 | 2024-04-22 | 2025-07-16 |
| Efficacy and Safety of SYNB1934 in Patients With PKU (SYNPHENY-3) SYNB1934v1, Placebo - Phenylketonuria | Phase 3 | Terminated | Synlogic | 35 | 2023-07-05 | 2024-06-20 |
| A Study of Safety of Weekly Subcutaneous Pegzilarginase in Subjects With Arginase 1 Deficiency Pegzilarginase - Arginase I Deficiency, Hyperargininemia | Phase 3 | Terminated | Aeglea Biotherapeutics | 3 | 2023-04-04 | 2023-07-27 |
| A Study of Replagal in Treatment-naïve Adults With Fabry Disease REPLAGAL - Fabry Disease | Phase 3 | Terminated | Shire | 17 | 2021-12-28 | 2024-06-17 |
| Study of ALXN1840 Versus Standard of Care in Pediatric Participants With Wilson Disease ALXN1840, Standard of Care - Wilson Disease | Phase 3 | Terminated | Alexion Pharmaceuticals, Inc. | 40 | 2021-09-13 | 2024-10-23 |
| Impact of Colchicine in Hospitalized Colombian Patients With COVID-19 Colchicine 0.5 MG, CONTROL GROUP - Corona Virus Infection | Phase 3 | Terminated | Fundación Universitaria de Ciencias de la Salud | 128 | 2021-04-30 | 2022-02-23 |
| A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy Vatiquinone, Placebo - Mitochondrial Diseases, Drug Resistant Epilepsy | Phase 2 / Phase 3 | Terminated | PTC Therapeutics | 68 | 2020-09-28 | 2026-03-31 |
| A Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, and Safety of Venglustat in Late-onset GM2 venglustat GZ402671, placebo - Tay-Sachs Disease, Sandhoff Disease | Phase 3 | Terminated | Genzyme, a Sanofi Company | 75 | 2020-06-29 | 2026-01-28 |
| GM1 Prophylaxis for WBRT Related Cognitive Dysfunction Monosialotetrahexosyl ganglioside (GM1), Control - Brain Metastases, Radiotherapy Side Effect | Phase 3 | Terminated | Sun Yat-sen University | 51 | 2020-05-15 | 2024-08-01 |
| Open-label Study of VTS-270 in Participants With Neurologic Manifestations of Niemann-Pick Type C1 VTS-270 - Niemann-Pick Disease, Type C | Phase 2 / Phase 3 | Terminated | Mandos LLC | 2 | 2019-12-02 | 2023-12-26 |
| An Extension Study to Evaluate the Long-term Efficacy and Safety of Oxabact in Patients With Primary Hyperoxaluria Oxabact OC5 - Oxalobacter formigenes Strain HC-1 - Hyperoxaluria, Primary | Phase 3 | Terminated | OxThera | 22 | 2019-03-14 | 2021-12-08 |
| Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD) Miglustat - GM2 Gangliosidosis, Supportive Care | Phase 3 | Terminated | Tehran University of Medical Sciences | 30 | 2019-01-14 | 2025-09-17 |
| Niemann-Pick Type C Treatment With Adrabetadex for Symptoms of Brain and Nervous System Adrabetadex - Niemann-Pick Type C Disease | Phase 3 | Terminated | Mandos LLC | 27 | 2018-06-18 | 2024-01-17 |
| Efficacy and Safety of ALXN1840 Administered for 48 Weeks Versus Standard of Care in Participants With Wilson Disease ALXN1840, SoC Therapy - Wilson Disease | Phase 3 | Terminated | Alexion Pharmaceuticals, Inc. | 214 | 2018-02-22 | 2024-06-17 |
| Adrabetadex to Treat Niemann-Pick Type C1 (NPC1) Disease Adrabetadex - Niemann-Pick Disease, Type C | Phase 2 / Phase 3 | Terminated | Mandos LLC | 66 | 2015-12-23 | 2023-08-29 |
| CER-001 Therapy as a Novel Approach to Treat Genetic Orphan Diseases CER-001, Placebo - Familial Hypoalphalipoproteinemia | Phase 3 | Terminated | Cerenis Therapeutics, SA | 30 | 2015-12-01 | 2025-07-22 |
| Efficacy and Tolerability of Anacetrapib Added to Ongoing Lipid-Lowering Therapy in Adult Participants With Homozygous Familial Hypercholesterolemia (HoFH) (MK-0859-042) Anacetrapib, Placebo - Hyperlipoproteinemia Type II, Homozygous Familial Hypercholesterolemia | Phase 3 | Terminated | Merck Sharp & Dohme LLC | 2 | 2013-06-01 | 2015-06-01 |
| Ecopipam Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan Disease Ecopipam, Placebo - Lesch-Nyhan Disease, Self-injurious Behavior | Phase 3 | Terminated | Emalex Biosciences Inc. | 9 | 2012-12-01 | 2024-04-22 |
| Study of the Safety and Efficacy of Long-Term Rilonacept Treatment for the Prevention of Gout Flares Rilonacept, Placebo, Allopurinol - Gout | Phase 3 | Terminated | Regeneron Pharmaceuticals | 220 | 2011-11-01 | 2017-07-18 |
Showing 20 of 32. Sign in to see all of them.
Gout (4) · Hyperlipoproteinemia Type II (4) · Niemann-Pick Disease, Type C (3) · Sandhoff Disease (3) · Tay-Sachs Disease (3) · Adrenoleukodystrophy (2) · Cognitive Dysfunction (2) · Fabry Disease (2) · Gangliosidosis, GM1 (2) · Hepatolenticular Degeneration (2) · Mucopolysaccharidosis I (2) · Mucopolysaccharidosis II (2) · Mucopolysaccharidosis VI (2) · Phenylketonurias (2)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (32) · Genetic Diseases, Inborn (32) · Metabolic Diseases (32) · Nutritional and Metabolic Diseases (32) · Nervous System Diseases (19) · Brain Diseases (18) · Central Nervous System Diseases (18) · Brain Diseases, Metabolic (17) · Brain Diseases, Metabolic, Inborn (17) · Lipid Metabolism Disorders (16) · Lipid Metabolism, Inborn Errors (15) · Lipidoses (9) · Lysosomal Storage Diseases (9) · Lysosomal Storage Diseases, Nervous System (9)
2-Hydroxypropyl-beta-cyclodextrin (3) · Allopurinol (2) · Atorvastatin (2) · Cyclodextrins (2) · torcetrapib (2) · CER-001 (1) · Colchicine (1) · Control Groups (1) · Erythrocyte Transfusion (1) · Fenofibrate (1) · G(M1) Ganglioside (1) · Ganciclovir (1) · Growth Hormone (1) · Human Growth Hormone (1) · Hydroxyurea (1)
Mandos LLC (3) · Alexion Pharmaceuticals, Inc. (2) · Merck Sharp & Dohme LLC (2) · Pfizer (2) · Aeglea Biotherapeutics (1) · Aldagen (1) · Amicus Therapeutics (1) · Amryt Pharma (1) · Atom Therapeutics Co., Ltd (1) · Cerenis Therapeutics, SA (1) · Emalex Biosciences Inc. (1) · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (1) · Fundación Universitaria de Ciencias de la Salud (1) · Genzyme, a Sanofi Company (1) · Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center (1)
United States (18) · Canada (9) · France (9) · Spain (9) · Germany (8) · United Kingdom (6) · Australia (5) · Italy (5) · Poland (5) · Turkey (Türkiye) (5) · Belgium (4) · Japan (4) · Argentina (3) · Czechia (3) · Singapore (3)
Andrea Superti-Furga, Prof. (1) · Cortney Caudill (1) · Erik SG Stroes, MD PhD (1) · Eugene S. Swenson, M.D., Ph.D. (1) · Eugene S. Swenson, MD, PhD (1) · Gerald V Raymond, M.D. (1) · Gesa Schalk, MD (1) · H J Jinnah, MD (1) · Hermann Einsele, Prof. Dr. (1)
PMID 16439323, PMID 17407645, PMID 17630038, PMID 19029469, PMID 21613319, PMID 21826782, PMID 22318199, PMID 23861242, PMID 24914136, PMID 27509102, PMID 31986264, PMID 32020029, PMID 32346093, PMID 34539759, PMID 37565307
2015 (1), 2017 (1), 2018 (1), 2019 (1), U01HL078787 (1)