300 completed, 35 active not recruiting, 32 recruiting, 32 terminated. 449 Phase 3, 76 Phase 2.
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 |
|---|---|---|---|---|---|---|
| A Study to Investigate the Safety, Pharmacokinetics (PK), and Efficacy of Garetosmab in Children and Adolescents With Fibrodysplasia Ossificans Progressiva (FOP) garetosmab - Fibrodysplasia Ossificans Progressiva, FOP | Phase 3 | Not yet recruiting | Regeneron Pharmaceuticals | 18 | 2027-02-02 | 2026-10-20 |
| Long-Term Safety and Tolerability of Nizubaglustat in Participants With Rare Lysosomal Disorders AZ-3102 - Niemann-Pick Disease Type C, GM2 Gangliosidosis | Phase 2 / Phase 3 | Not yet recruiting | Azafaros B.V. | 218 | 2026-12-10 | 2026-10-21 |
| Intracerebroventricular Tralesinidase Alfa in Participants With MPS IIIB (Sanfilippo Syndrome Type B) Tralesinidase alfa (TA) - MPS IIIB | Phase 3 | Not yet recruiting | Spruce Biosciences | 14 | 2026-12-01 | 2026-09-21 |
| A Study to Learn How Well Lucerastat Works and How Safe it is in Untreated Adult Male Participants With Fabry Disease Lucerastat - Fabry Disease | Phase 3 | Recruiting | Idorsia Pharmaceuticals Ltd. | 16 | 2026-12-01 | 2026-11-03 |
| Safety, Tolerability, and Efficacy of PLX-200 in Patients With CLN3 PLX-200, Placebo - Juvenile Neuronal Ceroid Lipofuscinosis | Phase 3 | Withdrawn | Polaryx Therapeutics, Inc. | 2026-11-01 | 2026-08-19 | |
| To Evaluate the Long-term Safety and Tolerability of Acoramidis in Participants With Newly Diagnosed ATTR-CM (ACT-EARLY OLE) Acoramidis (AG10) - Amyloidosis in Transthyretin (TTR), Amyloidosis, Familial | Phase 3 | Not yet recruiting | Eidos Therapeutics, a BridgeBio company | 250 | 2026-11-01 | 2026-08-11 |
| Study of Zodasiran in Adolescent Participants With Homozygous Familial Hypercholesterolemia Zodasiran - Homozygous Familial Hypercholesterolemia | Phase 3 | Recruiting | Arrowhead Pharmaceuticals | 10 | 2026-10-01 | 2026-10-26 |
| Study of Velaglucerase Beta ERT in Children With Gaucher Disease Velaglucerase beta - Gaucher Disease, Gaucher Disease Type 1 | Phase 3 | Not yet recruiting | CANbridge Life Sciences Ltd. | 10 | 2026-09-16 | 2026-09-29 |
| Trientine Tetrahydrochloride Administered Once a Day for the First Line Treatment of Wilson's Disease Patients. TETA 4HCl formulation, D-Penicillamine - Wilson's Disease | Phase 3 | Recruiting | Orphalan | 38 | 2026-09-03 | 2026-10-15 |
| [64Cu]FBP8 PET for Early Detection of Intracardiac Thrombus in Amyloid Cardiomyopathy [64Cu]FBP8 PET/MR - Cardiac Amyloidosis | Phase 3 | Recruiting | Brigham and Women's Hospital | 20 | 2026-07-07 | 2026-07-21 |
| KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases Sonlicromanol, Placebo - Mitochondrial Diseases, Maternally Inherited Diabetes and Deafness (MIDD) | Phase 3 | Recruiting | Khondrion BV | 220 | 2026-04-14 | 2026-10-14 |
| A Gaucher Disease Gene Therapy Trial With FLT201 FLT201 - Gaucher Disease Type 1 | Phase 3 | Recruiting | Spur Therapeutics | 45 | 2026-04-07 | 2026-10-14 |
| IBI306 Monotherapy in Non-Familial Hypercholesterolemia and Mixed Hyperlipidemia IBI306, placebo - Non-Familial Hypercholesterolemia and Mixed Hyperlipidemia | Phase 3 | Active not recruiting | Innovent Biologics (Suzhou) Co. Ltd. | 198 | 2026-04-01 | 2026-08-14 |
| Study of Cannabidiol in Sanfilippo Syndrome Epidiolex, Placebo - Sanfilippo Syndrome, Mucopolysaccharidosis III | Phase 2 / Phase 3 | Recruiting | Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center | 35 | 2026-04-01 | 2026-09-15 |
| A Study to Evaluate the Safety, Efficacy of SYH2053 in Chinese Participants With Non-familial Hypercholesterolemia and Mixed Hyperlipidemia on a Background of Lipid-lowering Therapy SYH2053/placebo injection - Non-familial Hypercholesterolemia and Mixed Hyperlipidemia | Phase 3 | Not yet recruiting | CSPC Zhongnuo Pharmaceutical (Shijiazhuang) Co., Ltd. | 900 | 2026-03-31 | 2026-02-19 |
| Tigulixostat (IBI128) vs Febuxostat in Gout Febuxostat, Tigulixostat - Gout | Phase 3 | Active not recruiting | Innovent Biologics Technology Limited (Shanghai R&D Center) | 600 | 2026-03-17 | 2026-09-01 |
| Efficacy and Safety of Mibavademab in Adult and Pediatric Patients With Generalized Lipodystrophy Mibavademab, Placebo - Generalized Lipodystrophy | Phase 3 | Recruiting | Regeneron Pharmaceuticals | 28 | 2026-03-13 | 2026-10-23 |
| QLC7401 Monotherapy in Non-familial Hypercholesterolemia or Mixed Dyslipidemia QLC7401, Placebo - Primary Hypercholesterolemia or Mixed Hyperlipidemia | Phase 3 | Not yet recruiting | Qilu Pharmaceutical Co., Ltd. | 510 | 2026-03-05 | 2026-03-02 |
| QLC7401 in the Treatment of Primary Hypercholesterolemia or Mixed Hyperlipidemia With Elevated Low Density Lipoprotein Cholesterol (LDL-C) QLC7401, Placebo - Primary Hypercholesterolemia or Mixed Hyperlipidemia | Phase 3 | Not yet recruiting | Qilu Pharmaceutical Co., Ltd. | 780 | 2026-03-01 | 2026-03-04 |
| A Study to Evaluate the Safety, Efficacy of SYH2053 as Monotherapy in Chinese Participants With Non-familial Hypercholesterolemia or Mixed Hyperlipidemia SYH2053 injection, SYH2053 injection placebo - Non-familial Hypercholesterolemia and Mixed Hyperlipidemia | Phase 3 | Recruiting | CSPC Zhongnuo Pharmaceutical (Shijiazhuang) Co., Ltd. | 760 | 2026-02-28 | 2026-04-07 |
Showing 20 of 449. Sign in to see all of them.
Hyperlipoproteinemia Type II (54) · Gout (46) · Homozygous Familial Hypercholesterolemia (31) · Fabry Disease (30) · Hypercholesterolemia (28) · Gaucher Disease (27) · Amyloid Neuropathies, Familial (22) · Amyloidosis (20) · Mucopolysaccharidosis II (19) · Phenylketonurias (19) · Genetic Diseases, Inborn (16) · Metabolic Diseases (16) · Lysosomal Storage Diseases (15) · Hyperlipidemias (14)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (448) · Nutritional and Metabolic Diseases (448) · Genetic Diseases, Inborn (433) · Metabolic Diseases (433) · Nervous System Diseases (188) · Lipid Metabolism Disorders (176) · Lipid Metabolism, Inborn Errors (173) · Brain Diseases (153) · Central Nervous System Diseases (153) · Brain Diseases, Metabolic (142) · Brain Diseases, Metabolic, Inborn (142) · Lysosomal Storage Diseases (122) · Lysosomal Storage Diseases, Nervous System (84) · Carbohydrate Metabolism, Inborn Errors (82)
Allopurinol (15) · Febuxostat (13) · Atorvastatin (12) · migalastat (12) · Ezetimibe (11) · sapropterin (10) · larazotide acetate (8) · Glucosylceramidase (7) · Rosuvastatin Calcium (7) · agalsidase alfa (7) · agalsidase beta (7) · canakinumab (7) · imiglucerase (7) · miglustat (7) · burosumab (6)
BioMarin Pharmaceutical (16) · Genzyme, a Sanofi Company (15) · Pfizer (15) · Novartis Pharmaceuticals (14) · Shire (14) · Regeneron Pharmaceuticals (12) · Amgen (11) · Amicus Therapeutics (11) · Merck Sharp & Dohme LLC (11) · Organon and Co (10) · Alnylam Pharmaceuticals (9) · Takeda (9) · Alexion Pharmaceuticals, Inc. (8) · Chiesi Farmaceutici S.p.A. (7) · Ardea Biosciences, Inc. (6)
United States (272) · United Kingdom (133) · France (130) · Canada (128) · Germany (115) · Spain (111) · Italy (105) · Australia (88) · Netherlands (80) · Brazil (65) · Japan (61) · Belgium (58) · Argentina (54) · Poland (54) · Turkey (Türkiye) (52)
Chris Storgard, MD (4) · Robert Evans, PharmD (3) · Allan M Lund, MD (2)
PMID 33874971, PMID 21353107, PMID 22052584, PMID 24144944, PMID 27578134, PMID 27839979, PMID 33990512, PMID 35835008, PMID 39151033, PMID 39847314, PMID 40411344, PMID 17407645, PMID 18600509, PMID 19029469, PMID 19775921, PMID 21401833, PMID 21613319, PMID 22087637, PMID 22500948, PMID 24014831, PMID 24122883, PMID 24286509, PMID 24588936, PMID 25614280, PMID 26053270, PMID 27494299, PMID 27509102, PMID 27657681, PMID 30558645, PMID 31203212, PMID 31353964, PMID 31889231, PMID 32063397, PMID 32107748, PMID 32524297, PMID 32609313, PMID 32994552, PMID 33070419, PMID 33527139, PMID 34355354, PMID 34826353, PMID 34923848, PMID 35799473, PMID 35916348, PMID 35961250, PMID 36520008, PMID 36715498, PMID 36854566, PMID 37415957, PMID 37434378
2023 (15), 2018 (10), 2015 (9), 2017 (7), 2019 (7), 2008 (5), 2009 (5), 2014 (5), 2016 (4), 2005 (3), 2025 (3), 2004 (1), P50AR054086 (1), R01HD058567 (1), R01NS051306 (1)