77 terminated. 77 Phase 2, 26 Phase 1, 6 Phase 3.
| Phase | Trials | Status |
|---|---|---|
| Phase 2 | 77 | Terminated 77 |
| Phase 1 | 26 | Terminated 26 |
| Phase 3 | 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 |
|---|---|---|---|---|---|---|
| An Open-label Extension Safety Study of MELAS Patients Who Completed TIS6463-203 (PRIZM) zagociguat 15mg - Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS Syndrome) | Phase 2 | Terminated | Tisento Therapeutics | 37 | 2025-08-18 | 2026-11-03 |
| 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 |
| A Study to Evaluate Administration of SBT101 Gene Therapy in Adult Patients With Adrenomyeloneuropathy (AMN) SBT101 Treatment - AMN, AMN Gene Mutation | Phase 1 / Phase 2 | Terminated | SwanBio Therapeutics, Inc. | 9 | 2022-11-17 | 2026-08-26 |
| Study for Adolescents and Adults With Ornithine Transcarbamylase Deficiency to Evaluate Safety and Tolerability of ARCT-810 ARCT-810, Placebo - Ornithine Transcarbamylase Deficiency, OTC Deficiency | Phase 2 | Terminated | Arcturus Therapeutics, Inc. | 8 | 2022-10-17 | 2025-09-26 |
| Phase IIa Study of ALLN-346 (Engineered Urate Oxidase) in Subjects With Hyperuricemia, Gout and Chronic Kidney Disease ALLN-346, Placebo - Hyperuricemia, Gout | Phase 2 | Terminated | Allena Pharmaceuticals | 19 | 2022-09-02 | 2023-06-23 |
| Study of ARO-ANG3 in Participants With Homozygous Familial Hypercholesterolemia (HOFH) ARO-ANG 3 Injection - Homozygous Familial Hypercholesterolemia | Phase 2 | Terminated | Arrowhead Pharmaceuticals | 18 | 2022-04-22 | 2026-06-12 |
| A Study to Evaluate ALN-XDH in Healthy Subjects and Patients With Gout ALN-XDH, Placebo - Gout | Phase 1 / Phase 2 | Terminated | Alnylam Pharmaceuticals | 44 | 2022-02-25 | 2024-03-29 |
| Continuation Study of Long-term Safety, Tolerability, Pharmacokinetics and Efficacy of Recifercept in Achondroplasia Recifercept - Achondroplasia | Phase 2 | Terminated | Pfizer | 35 | 2021-12-24 | 2024-02-08 |
| A Phase 2 Study to Evaluate the Safety, Efficacy and PK of Tildacerfont in Children Aged 2-17 Years With CAH Tildacerfont - Congenital Adrenal Hyperplasia, 21-OHD | Phase 2 | Terminated | Spruce Biosciences | 67 | 2021-12-10 | 2025-12-24 |
| Safety, Tolerability, and Pharmacokinetics of UX053 in Patients With Glycogen Storage Disease Type III (GSD III) UX053, Placebo, Antipyretic - Glycogen Storage Disease Type III | Phase 1 / Phase 2 | Terminated | Ultragenyx Pharmaceutical Inc | 9 | 2021-10-18 | 2024-04-16 |
| A Study to Assess the Safety, Pharmacokinetics, and Pharmacodynamics of mRNA-3705 in Participants With Isolated Methylmalonic Acidemia mRNA-3705, Placebo - Methylmalonic Acidemia | Phase 1 / Phase 2 | Terminated | ModernaTX, Inc. | 18 | 2021-08-06 | 2026-05-06 |
| Gene Therapy With hLB-001 in Pediatric Patients With Severe Methylmalonic Acidemia hLB-001 - Methylmalonic Acidemia | Phase 1 / Phase 2 | Terminated | LogicBio Therapeutics, Inc | 4 | 2021-05-29 | 2024-02-23 |
| A Multiple Ascending Dose Study of ACN00177 (Pegtarviliase) in Subjects With CBS Deficiency Pegtarviliase IV, Pegtarviliase SC - Homocystinuria Due to Cystathionine Beta-Synthase Deficiency | Phase 1 / Phase 2 | Terminated | Aeglea Biotherapeutics | 13 | 2021-05-13 | 2023-07-27 |
| A Safety and Efficacy Study of LYS-GM101 Gene Therapy in Patients With GM1 Gangliosidosis LYS-GM101 - GM1 Gangliosidosis | Phase 1 / Phase 2 | Terminated | LYSOGENE | 5 | 2021-05-11 | 2023-06-09 |
| Study of HST5040 in Subjects With Propionic or Methylmalonic Acidemia HST5040, Placebo - Methylmalonic Acidemia, Propionic Acidemia | Phase 2 | Terminated | HemoShear Therapeutics | 26 | 2021-03-15 | 2024-01-05 |
| A Ph2b to Evaluate Tildacerfont in the Reduction of Glucocorticoid Steroid Doses in Adult CAH Tildacerfont/Placebo - Congenital Adrenal Hyperplasia | Phase 2 | Terminated | Spruce Biosciences | 100 | 2021-02-22 | 2025-10-01 |
| A Study Of Safety, Tolerability And Effectiveness Of Recifercept In Children With Achondroplasia Recifercept - Achondroplasia | Phase 2 | Terminated | Pfizer | 60 | 2020-12-02 | 2024-02-15 |
| Phase 2a Study of IW-6463 in Adults Diagnosed With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) IW-6463 Tablets - MELAS | Phase 2 | Terminated | Tisento Therapeutics | 8 | 2020-11-13 | 2024-08-29 |
| 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 Long Term Follow-Up Study of Fabry Disease Subjects Treated With FLT190 FLT190 - Fabry Disease, Lysosomal Storage Diseases | Phase 1 / Phase 2 | Terminated | Spur Therapeutics | 3 | 2020-09-08 | 2026-09-03 |
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Lysosomal Storage Diseases (8) · Mucopolysaccharidosis III (6) · Fabry Disease (5) · Genetic Diseases, Inborn (5) · Hyperlipoproteinemia Type II (5) · Mucopolysaccharidosis IV (5) · Phenylketonurias (5) · Adrenal Hyperplasia, Congenital (4) · Gout (4) · Metabolic Diseases (4) · Methylmalonic acidemia (4) · Mucopolysaccharidosis I (4) · Niemann-Pick Disease, Type C (4) · Adrenal Gland Diseases (3)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (77) · Nutritional and Metabolic Diseases (77) · Metabolic Diseases (73) · Genetic Diseases, Inborn (72) · Nervous System Diseases (38) · Brain Diseases (35) · Central Nervous System Diseases (35) · Brain Diseases, Metabolic (33) · Brain Diseases, Metabolic, Inborn (33) · Lysosomal Storage Diseases (25) · Lipid Metabolism Disorders (24) · Lipid Metabolism, Inborn Errors (24) · Carbohydrate Metabolism, Inborn Errors (21) · Skin and Connective Tissue Diseases (21)
GALNS protein, human (3) · sapropterin (3) · 2-Hydroxypropyl-beta-cyclodextrin (2) · Aspirin (2) · Blood Circulation (2) · Chondroitinases and Chondroitin Lyases (2) · Cyclodextrins (2) · Enzyme Replacement Therapy (2) · Galns protein, mouse (2) · Ramipril (2) · Simvastatin (2) · Stem Cell Transplantation (2) · Sulfatases (2) · implitapide (2) · 1-Deoxynojirimycin (1)
BioMarin Pharmaceutical (5) · Shire (3) · Spruce Biosciences (3) · AVROBIO (2) · Alexion Pharmaceuticals, Inc. (2) · Amicus Therapeutics (2) · Ferrer Internacional S.A. (2) · Mandos LLC (2) · Medical Research Laboratories International (2) · PTC Therapeutics (2) · Pfizer (2) · Sangamo Therapeutics (2) · Spur Therapeutics (2) · Tisento Therapeutics (2) · Ultragenyx Pharmaceutical Inc (2)
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Aabha Nagral, MD (1) · Adam Shaywitz, MD PhD (1) · Andrea Superti-Furga, Prof. (1) · Andres Poveda, Ph.M. (1) · C Tosone, MS, RAC (1) · Celeste Decker, M.D. (1) · Celeste Decker, MD (1) · Chad Glasser, PharmD (1) · Claudia Gravekamp, PhD (1)
PMID 36299240, PMID 21586746, PMID 21982664, PMID 22547151, PMID 25421091, PMID 25670366, PMID 29159458, PMID 29526614, PMID 32278382, PMID 32884151, PMID 33332761, PMID 34600820, PMID 35283460, PMID 36631545, PMID 37624739, PMID 38682459, PMID 38685585, PMID 40216220, PMID 41388232, PMID 41422812, PMID 41912673, PMID 42389794
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