34 active not recruiting. 34 Phase 3, 5 Phase 2.
| Phase | Trials | Status |
|---|---|---|
| Phase 3 | 34 | Active not recruiting 34 |
| Phase 2 | 5 | Active not recruiting 5 |
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 |
|---|---|---|---|---|---|---|
| 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 |
| 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 |
| RGX-121-3102 Gene Therapy in Participants With MPS II (Hunter Syndrome) RGX-121-3102 - MPS II, Hunter Syndrome (MPS II) | Phase 3 | Active not recruiting | REGENXBIO Inc. | 2 | 2025-11-25 | 2026-06-04 |
| A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of GM1 Gangliosidosis or GM2 Gangliosidosis AZ-3102, Placebo - Gangliosidoses, GM2, Gangliosidosis, GM1 | Phase 3 | Active not recruiting | Azafaros B.V. | 75 | 2025-06-30 | 2026-09-22 |
| A Phase 3 Study of Zodasiran in Adolescent and Adult Subjects With Homozygous Familial Hypercholesterolemia (YOSEMITE) zodasiran Injection, Placebo - Homozygous Familial Hypercholesterolemia | Phase 3 | Active not recruiting | Arrowhead Pharmaceuticals | 70 | 2025-06-17 | 2026-08-12 |
| A Phase 3 Clinical Trial to Evaluate the Efficacy and Safety of VSA003 in Chinese HoFH Patients VSA003, Placebo - Homozygous Familial Hypercholesterolemia (HoFH) | Phase 3 | Active not recruiting | Visirna Therapeutics HK Limited | 46 | 2024-11-27 | 2026-05-05 |
| Phase 3 Study of ALXN1850 in Treatment-Naïve Pediatric Participants With HPP ALXN1850, Placebo - Hypophosphatasia | Phase 3 | Active not recruiting | Alexion Pharmaceuticals, Inc. | 30 | 2024-05-14 | 2026-05-28 |
| An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC Deficiency ECUR-506 - Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease | Phase 3 | Active not recruiting | iECURE, Inc. | 20 | 2024-04-08 | 2026-09-30 |
| Phase 3 Study of ALXN1850 in Pediatric Participants With HPP Previously Treated With Asfotase Alfa ALXN1850, asfotase alfa - Hypophosphatasia | Phase 3 | Active not recruiting | Alexion Pharmaceuticals, Inc. | 43 | 2024-04-02 | 2026-05-05 |
| Extension Study of Idursulfase-IT Along With Elaprase in Children and Adults With Hunter Syndrome and Cognitive Impairment Idursulfase-IT, Elaprase - Hunter Syndrome | Phase 2 / Phase 3 | Active not recruiting | Takeda | 6 | 2024-03-05 | 2025-11-06 |
| Phase 3 Study of ALXN1850 Versus Placebo in Adolescent and Adult Participants With HPP Who Have Not Previously Been Treated With Asfotase Alfa ALXN1850, Placebo - Hypophosphatasia | Phase 3 | Active not recruiting | Alexion Pharmaceuticals, Inc. | 124 | 2024-01-03 | 2026-06-22 |
| A Study to Investigate the Efficacy and Safety of OTL-203 in Subjects With MPS-IH Compared With Standard of Care With Allogeneic HSCT Experimental: OTL-203, Active Comparator: Allo-HSCT - MPS-IH (Hurler Syndrome) | Phase 3 | Active not recruiting | Orchard Therapeutics | 41 | 2023-12-11 | 2025-12-22 |
| Molecular Imaging of Myocardial Fibrosis in Cardiac Amyloidosis [68Ga]CBP8 PET/MRI - Cardiac Amyloidosis | Phase 3 | Active not recruiting | Brigham and Women's Hospital | 18 | 2023-01-03 | 2026-07-06 |
| A Study to Evaluate Migalastat in Fabry Subjects With Amenable GLA Variant and Renal Disease migalastat HCl 150 mg - Fabry Disease | Phase 3 | Active not recruiting | Amicus Therapeutics | 14 | 2022-10-31 | 2026-07-06 |
| Clinical Study of DTX301 AAV-Mediated Gene Transfer for Ornithine Transcarbamylase (OTC) Deficiency DTX301, Placebo, Oral Corticosteroids - OTC Deficiency | Phase 3 | Active not recruiting | Ultragenyx Pharmaceutical Inc | 37 | 2022-10-18 | 2026-09-09 |
| A Study to Determine the Efficacy and Safety of Tividenofusp Alfa (DNL310) vs Idursulfase in Pediatric and Young Adult Participants With Neuronopathic (nMPS II) or Non-Neuronopathic Mucopolysaccharidosis Type II (nnMPS II) tividenofusp alfa, idursulfase - Mucopolysaccharidosis II | Phase 2 / Phase 3 | Active not recruiting | Denali Therapeutics Inc. | 65 | 2022-07-21 | 2026-09-09 |
| Study to Evaluate the Safety and Efficacy of Pegvaliase in Adolescents (Ages 12-17) With Phenylketonuria Pegvaliase, Diet Only - Phenylketonuria (PKU) | Phase 3 | Active not recruiting | BioMarin Pharmaceutical | 55 | 2022-06-17 | 2026-07-21 |
| A Study to Evaluate the Effect of Venglustat Tablets on Left Ventricular Mass Index in Male and Female Adult Participants With Fabry Disease Venglustat (GZ402671), Agalsidase alfa, Agalsidase beta (GZ419828) - Fabry Disease | Phase 3 | Active not recruiting | Sanofi | 104 | 2022-05-03 | 2026-06-24 |
| Study to Evaluate the Efficacy and Safety of Venglustat in Adult and Pediatric Patients With Gaucher Disease Type 3 Venglustat, imiglucerase - Gaucher's Disease Type III | Phase 3 | Active not recruiting | Sanofi | 43 | 2022-04-18 | 2026-07-13 |
| A Study to Evaluate the Effect of Venglustat Tablets on Neuropathic and Abdominal Pain in Male and Female Participants ≥16 Years of Age With Fabry Disease Venglustat (GZ402671), Placebo - Fabry Disease | Phase 3 | Active not recruiting | Sanofi | 122 | 2022-03-11 | 2026-10-13 |
Showing 20 of 34. Sign in to see all of them.
Mucopolysaccharidosis II (7) · Sudden Infant Death (4) · Fabry Disease (3) · Genetic Diseases, Inborn (3) · Hypophosphatasia (3) · Lysosomal Storage Diseases (3) · Adrenal Hyperplasia, Congenital (2) · Amyloid Neuropathies, Familial (2) · Amyloidosis (2) · Genetic Diseases, X-Linked (2) · Glycogen Storage Disease Type II (2) · Homozygous Familial Hypercholesterolemia (2) · Kidney Diseases (2) · Metabolic Diseases (2) · Nervous System Diseases (2)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (34) · Nutritional and Metabolic Diseases (34) · Metabolic Diseases (32) · Genetic Diseases, Inborn (31) · Nervous System Diseases (20) · Lysosomal Storage Diseases (13) · Brain Diseases (12) · Brain Diseases, Metabolic (12) · Brain Diseases, Metabolic, Inborn (12) · Carbohydrate Metabolism, Inborn Errors (12) · Central Nervous System Diseases (12) · Genetic Diseases, X-Linked (11) · Heredodegenerative Disorders, Nervous System (10) · Lipid Metabolism Disorders (9)
idursulfase (3) · venglustat (3) · crinecerfont (2) · migalastat (2) · zodasiran (2) · Adrenal Cortex Hormones (1) · Dichloroacetic Acid (1) · Febuxostat (1) · Genotype (1) · Prednisolone (1) · Sodium Acetate (1) · agalsidase alfa (1) · agalsidase beta (1) · asfotase alfa (1) · attruby (1)
Sanofi (4) · Alexion Pharmaceuticals, Inc. (3) · Amicus Therapeutics (2) · JCR Pharmaceuticals Co., Ltd. (2) · Neurocrine Biosciences (2) · Orchard Therapeutics (2) · REGENXBIO Inc. (2) · AO GENERIUM (1) · Alnylam Pharmaceuticals (1) · Arrowhead Pharmaceuticals (1) · Azafaros B.V. (1) · BioMarin Pharmaceutical (1) · Brigham and Women's Hospital (1) · Denali Therapeutics Inc. (1) · Dicerna Pharmaceuticals, Inc., a Novo Nordisk company (1)
United States (27) · Canada (18) · United Kingdom (18) · Germany (16) · Italy (16) · Spain (16) · France (14) · Australia (13) · Japan (13) · Turkey (Türkiye) (11) · Brazil (10) · Netherlands (10) · Argentina (9) · China (9) · Belgium (8)
Alexander Schramm (1) · George Diaz, M.D., Ph.D (1) · Jose Alcantara Rodriguez, PharmD (1) · Oksana A. Markova, MD, MSc (1) · Richard Neibeger, MD (1) · Sharmila Dorbala, MD (1) · Verity Rawson, MB.CHB (1)
PMID 38171926, PMID 38828945, PMID 38828955, PMID 39213194, PMID 39556242, PMID 39566871, PMID 40099776, PMID 40193200, PMID 40380962, PMID 40601241, PMID 40769675, PMID 40770082, PMID 41205147, PMID 41225306, PMID 41911489, PMID 42165759, PMID 42201475, PMID 42389794, PMID 42616515, PMID 42646924, PMID 42669065, PMID 42669069, PMID 42669070, PMID 42974684
2023 (5), 2019 (1)