61 recruiting. 61 Phase 2, 34 Phase 1, 6 Phase 3.
| Phase | Trials | Status |
|---|---|---|
| Phase 2 | 61 | Recruiting 61 |
| Phase 1 | 34 | Recruiting 34 |
| Phase 3 | 6 | Recruiting 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 |
|---|---|---|---|---|---|---|
| Metyrapone Study for Patients Diagnosed With Mild Autonomous Cortisol Secretion - MACS Metyrapone 250 mg Oral Tablets, Placebo - Mild Autonomous Cortisol Secretion (MACS), Autonomous Cortisol Secretion (ACS) | Phase 2 | Recruiting | Mayo Clinic | 90 | 2026-10-01 | 2026-09-25 |
| Phase 1/2 Study of KRRO-121 in Healthy Volunteers and Patients With UCD KRRO-121, Placebo - Urea Cycle Disorders, Inborn, Urea Cycle Disorders | Phase 1 / Phase 2 | Recruiting | Korro Bio, Inc. | 30 | 2026-09-28 | 2026-10-08 |
| Study of YOLT-203 in Children and Adults With Primary Hyperoxaluria Type 1 (PH1) YOLT-203, Placebo - Primary Hyperoxaluria Type 1, PH1 | Phase 2 | Recruiting | YolTech Therapeutics Co., Ltd | 36 | 2026-09-16 | 2026-10-09 |
| ATR 1072 in Participants With PRKAG2 Syndrome ATR 1072 - Cardiac Glycogenosis, Cardiomyopathy | Phase 1 / Phase 2 | Recruiting | Atrium Therapeutics | 37 | 2026-09-14 | 2026-09-18 |
| A Study of the Safety and Efficacy of Prime Editing (PM577) in Participants With Wilson Disease (WD) PM577a - Wilson Disease, Wilson's Disease | Phase 1 / Phase 2 | Recruiting | Prime Medicine, Inc. | 42 | 2026-09-01 | 2026-10-01 |
| NORTHERA (DROXIDOPA) for Dysautonomia in Pediatric Survivors of Menkes Disease Droxidopa Oral Product, Placebo Control - Menkes Disease | Phase 1 / Phase 2 | Recruiting | Stephen G. Kaler | 6 | 2026-08-10 | 2026-10-05 |
| Study of LNP.UCD.ABE in Patients With Urea Cycle Disorders LNP.UCD.ABE - Urea Cycle Disorders, Carbamoyl-Phosphate Synthase I Deficiency | Phase 1 / Phase 2 | Recruiting | Rebecca Ahrens-Nicklas | 7 | 2026-08-07 | 2026-08-26 |
| A Study of SYH2070 Injection in Participants With Mixed Hyperlipidemia SYH2070, Placebo - Mixed Hyperlipidemia | Phase 2 | Recruiting | CSPC Zhongnuo Pharmaceutical (Shijiazhuang) Co., Ltd. | 240 | 2026-07-15 | 2026-07-22 |
| Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Crinecerfont in Participants With Classic Congenital Adrenal Hyperplasia (CAH) Who Are Less Than 4 Years Old Crinecerfont - Congenital Adrenal Hyperplasia | Phase 2 | Recruiting | Neurocrine Switzerland GmbH | 20 | 2026-07-01 | 2026-09-16 |
| A Study of MZE782 in Adults With PKU MZE782, Placebo - Phenylketonuria (PKU) | Phase 2 | Recruiting | Maze Therapeutics | 38 | 2026-06-23 | 2026-10-23 |
| A Phase 2 Trial of Dotinurad in Xanthine Oxidase Inhibitor (XOI) Intolerant/Uricase Failure Gout Participants Dotinurad, Placebo - Gout | Phase 2 | Recruiting | Crystalys Therapeutics | 90 | 2026-05-08 | 2026-09-28 |
| A Study to Evaluate BBI-001 in Healthy Volunteers and in Patients With Hereditary Hemochromatosis BBI-001, Placebo - Hereditary Hemochromatosis | Phase 1 / Phase 2 | Recruiting | Bond Biosciences | 34 | 2026-05-04 | 2026-05-13 |
| A Study to Evaluate Safety, Tolerability, and Efficacy of AB-1009 Gene Therapy (GAA Gene) in Adult Participants With Late-Onset Pompe Disease (PROGRESS-GT LOPD) AB-1009 (GAA Gene) - Pompe Disease (Late-onset), Pompe Disease Late-Onset | Phase 1 / Phase 2 | Recruiting | AskBio Inc | 12 | 2026-04-15 | 2026-10-13 |
| 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 Dose-exploration Study of EDP167 in HoFH EDP167 - Homozygous Familial Hypercholesterolemia (HoFH) | Phase 2 | Recruiting | Eddingpharm (Zhuhai) Co., Ltd. | 20 | 2026-02-06 | 2026-05-20 |
| A Study in Pediatric Participants With Congenital Adrenal Hyperplasia (Balance-CAH) Atumelnant, Placebo - Congenital Adrenal Hyperplasia, Classic Congenital Adrenal Hyperplasia | Phase 2 / Phase 3 | Recruiting | Crinetics Pharmaceuticals Inc. | 153 | 2026-01-22 | 2026-11-05 |
| Impact of 1 mg Osilodrostat Therapy on Mild Autonomous Cortisol Secretion (MACS) Osilodrostat 1 MG - Mild Autonomous Cortisol Secretion, Autonomous Cortisol Secretion (ACS) | Phase 2 | Recruiting | Mayo Clinic | 15 | 2026-01-14 | 2026-02-11 |
| Study of ARO-DIMERPA in Adult Participants With Mixed Hyperlipidemia ARO-DIMERPA, Placebo - Hyperlipidemia; Mixed | Phase 1 / Phase 2 | Recruiting | Arrowhead Pharmaceuticals | 78 | 2025-12-22 | 2026-10-13 |
| A Study to Investigate the Clinical Effect and the Safety of PRX-115 Infused Intravenously at Different Dosing Regimens, With and Without Methotrexate, Versus Placebo in Adults Gout Patients (RELEASE) PRX-115, Methotrexate (MTX), PRX-115 placebo - Gout | Phase 2 | Recruiting | Protalix | 150 | 2025-12-22 | 2026-09-29 |
| Interventional Study of Infigratinib in Children < 3 Years Old With Achondroplasia (ACH) Infigratinib is provided as a single dose of minitablets for oral administration, Infigratinib is provided as sprinkle capsules for daily oral administration, Infigratinib or placebo comparator is provided as sprinkle capsules for daily oral administration - Achondroplasia | Phase 2 | Recruiting | QED Therapeutics, a BridgeBio company | 77 | 2025-11-19 | 2026-07-13 |
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Adrenal Hyperplasia, Congenital (6) · Fabry Disease (4) · Genetic Diseases, Inborn (4) · Gout (4) · Lysosomal Storage Diseases (4) · Metabolic Diseases (4) · Glycogen Storage Disease (3) · Glycogen Storage Disease Type II (3) · Hyperlipoproteinemia Type II (3) · Mucopolysaccharidosis III (3) · Ornithine Carbamoyltransferase Deficiency Disease (3) · Phenylketonurias (3) · Rare Diseases (3) · ACTH Syndrome, Ectopic (2)
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PMID 32634238, PMID 32750127, PMID 32884151, PMID 35249485, PMID 36577040, PMID 40382700, PMID 40766118, PMID 41665410
2025 (3), 2023 (2), 2015 (1), P01HL116263 (1), R01CA229354 (1), R01CA258297 (1)