420 completed. 420 Phase 2, 109 Phase 1, 44 Phase 3.
| Phase | Trials | Status |
|---|---|---|
| Phase 2 | 420 | Completed 420 |
| Phase 1 | 109 | Completed 109 |
| Phase 3 | 44 | Completed 44 |
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 |
|---|---|---|---|---|---|---|
| Safety and Efficacy of ABP-745 in Participants With an Acute Gout Flare ABP-745 Dose A, ABP-745 Dose B, Colchicine - Acute Gouty Arthritis, Gout Flare | Phase 2 | Completed | Atom Therapeutics Co., Ltd | 479 | 2025-08-26 | 2026-10-28 |
| A Phase 2 Study of JNT-517 in Adolescent Participants With Phenylketonuria JNT-517 Tablet, Placebo - Phenylketonuria (PKU) | Phase 2 | Completed | Otsuka Pharmaceutical Development & Commercialization, Inc. | 14 | 2025-07-16 | 2026-05-13 |
| Patient Preference Study: Standard of Care Versus Once-daily Trientine Tetrahydrochloride New TETA 4HCl Formulation, Standard of Care - Wilson's Disease | Phase 2 | Completed | Orphalan | 10 | 2025-07-15 | 2026-04-06 |
| Comparative Clinical and Biochemical Study Evaluating the Effectiveness of Metformin Versus Febuxostat on Gouty Obese Non-Diabetic Patients Febuxostat Tablets, Metformin - Gout | Phase 2 | Completed | Mostafa Bahaa | 60 | 2025-05-30 | 2026-09-17 |
| A Study to Assess TTI-0102 vs Placebo in MELAS Patients TTI-0102, Placebo - MELAS Syndrome, Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS) | Phase 2 | Completed | Thiogenesis Therapeutics, Inc. | 9 | 2025-05-12 | 2026-07-24 |
| Study to Determine Optimal Dose and Evaluate Safety, Tolerability, and Pharmacokinetics of Progerinin in Patients With Hutchinson-Gilford Progeria Syndrome (HGPS) Progerinin, Lonafarnib - Hutchinson-Gilford Progeria Syndrome | Phase 2 | Completed | PRG Science & Technology Co., Ltd. | 10 | 2025-01-13 | 2026-10-02 |
| A Study to Evaluate the Safety, Efficacy of SYH2053 in Chinese Participants With Non-familial Hypercholesterolemia and Mixed Hyperlipidemia SYH2053/placebo injection, Inclisiran (Leqvio®) 300mg - Hypercholesterolemia and Mixed Hyperlipidemia | Phase 2 | Completed | CSPC Zhongnuo Pharmaceutical (Shijiazhuang) Co., Ltd. | 156 | 2024-12-03 | 2026-02-19 |
| A Phase 2b Study of Zagociguat in Patients With MELAS zagociguat 15mg, zagociguat 30mg, Placebo - Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS Syndrome) | Phase 2 | Completed | Tisento Therapeutics | 43 | 2024-09-10 | 2026-10-23 |
| A Dose Finding Study to Assess Efficacy and Safety of IBI128 in Chinese Gout Subjects Febuxostat, IBI128 - Gout, Hyperuricemia | Phase 2 | Completed | Innovent Biologics (Suzhou) Co. Ltd. | 84 | 2024-07-10 | 2025-03-27 |
| Evaluate the Efficacy and Safety of SHR-1918 in Patients With Homozygous Familial Hypercholesterolemia SHR-1918 - Homozygous Familial Hypercholesterolemia | Phase 2 | Completed | Beijing Suncadia Pharmaceuticals Co., Ltd | 26 | 2023-12-22 | 2025-09-05 |
| PK and PD Study of NPI-001 and Cysteamine Bitartrate Cysteamine Bitartrate, N-Acetylcysteine Amide - Cystinosis | Phase 1 / Phase 2 | Completed | Nacuity Pharmaceuticals, Inc. | 8 | 2023-10-29 | 2026-10-13 |
| Open Label PK, PD and DDI of Dotinurad and Allopurinol in Gout Patients With Hyperuricemia dotinurad, dotinurad + allopurinol, allopurinol - Gout, Hyperuricemia | Phase 1 / Phase 2 | Completed | Urica Therapeutics Inc. | 20 | 2023-10-04 | 2026-06-10 |
| Promoting Resilience in Stress Management (PRISM) and Clinical-focused Narrative (CFN) Pilot in Adults With Primary Mitochondrial Disease (PMD). Promoting Resilience in Stress Management (PRISM), Clinical-focused narrative (CFN) - Mitochondrial Diseases, Mitochondrial Myopathies | Phase 1 / Phase 2 | Completed | Children's Hospital of Philadelphia | 16 | 2023-09-22 | 2024-11-29 |
| Phase 2b/3 Study to Assess ABP-671 a Novel URAT1 Inhibitor in Participants With Gout ABP-671, Allopurinol, Placebo - Gout | Phase 2 / Phase 3 | Completed | Atom Therapeutics Co., Ltd | 300 | 2023-08-11 | 2025-12-22 |
| A Study of the Efficacy of Genakumab in Prevention of Acute Flares in Gout Patients Initiating Urate-lowering TherapyUrate-lowering (GenSci048-202) Genakumab for injection, Colchicine - Gout, Gout Initiating Urate-loweringUrate-lowering Therapy | Phase 2 | Completed | Changchun GeneScience Pharmaceutical Co., Ltd. | 165 | 2023-07-20 | 2025-01-01 |
| Evaluate the Safety, Efficacy, and Pharmacokinetics of CRN04894 in Participants With Congenital Adrenal Hyperplasia (TouCAHn) atumelnant (CRN04894) - Congenital Adrenal Hyperplasia, Classic Congenital Adrenal Hyperplasia | Phase 2 | Completed | Crinetics Pharmaceuticals Inc. | 38 | 2023-07-03 | 2026-09-10 |
| OMT-28 in Patients With Primary Mitochondrial Disease (PMD) (PMD-OPTION) OMT-28 - Primary Mitochondrial Disease | Phase 2 | Completed | Omeicos Therapeutics GmbH | 28 | 2023-05-22 | 2026-01-22 |
| Pilot Trial of Single Dose Ilofotase Alfa in Hypophosphatasia Ilofotase Alfa, 0.8 mg/kg, Ilofotase Alfa, 3.2 mg/kg - Hypophosphatasia | Phase 1 / Phase 2 | Completed | AM-Pharma | 12 | 2023-05-15 | 2025-02-27 |
| Phase 2 Study Evaluating the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Oral AZ-3102 in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease AZ-3102 (Dose 1), Placebo, AZ-3102 (Dose 2) - GM2 Gangliosidosis, Niemann-Pick Disease, Type C | Phase 2 | Completed | Azafaros B.V. | 13 | 2023-04-24 | 2026-05-14 |
| Phase II Study to Evaluate Efficacy and Safety of D-0120 in Combination With Allopurinol in Subjects With Gout D-0120, Allopurinol - Gout | Phase 2 | Completed | InventisBio Co., Ltd | 80 | 2023-04-17 | 2026-07-09 |
Showing 20 of 420. Sign in to see all of them.
Gout (55) · Hyperuricemia (27) · Hyperlipoproteinemia Type II (22) · Lysosomal Storage Diseases (20) · Fabry Disease (19) · Phenylketonurias (16) · Gaucher Disease (15) · Glycogen Storage Disease Type II (15) · Mucopolysaccharidosis II (15) · Mucopolysaccharidosis I (14) · Hyperoxaluria, Primary (13) · Rare Diseases (13) · Adrenal Hyperplasia, Congenital (12) · Homozygous Familial Hypercholesterolemia (12)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (420) · Nutritional and Metabolic Diseases (420) · Genetic Diseases, Inborn (409) · Metabolic Diseases (408) · Nervous System Diseases (183) · Central Nervous System Diseases (149) · Brain Diseases (148) · Brain Diseases, Metabolic (145) · Brain Diseases, Metabolic, Inborn (145) · Lipid Metabolism, Inborn Errors (118) · Lipid Metabolism Disorders (117) · Lysosomal Storage Diseases (115) · Carbohydrate Metabolism, Inborn Errors (103) · Musculoskeletal Diseases (92)
Febuxostat (16) · Allopurinol (13) · Colchicine (11) · GAA protein, human (8) · asfotase alfa (8) · agalsidase alfa (7) · Ganciclovir (6) · burosumab (6) · verinurad (6) · Busulfan (5) · arhalofenate (5) · canakinumab (5) · larazotide acetate (5) · migalastat (5) · sapropterin (5)
Genzyme, a Sanofi Company (17) · Shire (17) · Alexion Pharmaceuticals, Inc. (15) · BioMarin Pharmaceutical (15) · Amicus Therapeutics (10) · Novartis Pharmaceuticals (9) · Amgen (7) · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (7) · National Center for Research Resources (NCRR) (7) · Gilead Sciences (6) · Takeda (6) · JCR Pharmaceuticals Co., Ltd. (5) · Masonic Cancer Center, University of Minnesota (5) · National Institute of Allergy and Infectious Diseases (NIAID) (5) · National Institute of Neurological Disorders and Stroke (NINDS) (5)
United States (266) · United Kingdom (95) · France (68) · Germany (63) · Canada (60) · Italy (43) · Spain (42) · Netherlands (37) · Australia (31) · Brazil (23) · Israel (18) · Japan (18) · Poland (16) · Turkey (Türkiye) (15) · Belgium (14)
Paul Orchard, MD (6) · Forbes D Porter, M.D. (4) · Abhimanyu Garg, MD (2) · Alan Hollister, MD, PhD (2) · Amy Zhang, PhD (2) · Ari Gershman, MD (2) · Bruce Barshop (2)
PMID 19775921, PMID 27657681, PMID 26529632, PMID 32417537, PMID 32593547, PMID 32762706, PMID 16911575, PMID 21586746, PMID 22961727, PMID 23176611, PMID 23348766, PMID 24014831, PMID 24144944, PMID 25919461, PMID 27494299, PMID 27699270, PMID 29688815, PMID 29976218, PMID 30467742, PMID 30558645, PMID 31353964, PMID 32107748, PMID 32721016, PMID 32951150, PMID 33325055, PMID 33482890, PMID 33980287, PMID 34146101, PMID 34349180, PMID 35835061, PMID 35961250, PMID 36481125, PMID 37915038, PMID 38101904, PMID 38776275, PMID 39151033, PMID 40193200, PMID 40267426, PMID 40601241, PMID 11914243, PMID 12122118, PMID 12141594, PMID 12210323, PMID 1281472, PMID 14605787, PMID 14640675, PMID 14662594, PMID 15026283, PMID 15110326, PMID 15293280
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