420 completed, 77 terminated, 61 recruiting, 46 active not recruiting. 716 Phase 2, 226 Phase 1, 76 Phase 3.
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 Basket Clinical Study to Assess Glycerol Tributyrate in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like Episodes (MELAS) or Leber's Hereditary Optic Neuropathy-Plus (LHON-Plus) Glycerol Tributyrate - MELAS Syndrome, Lebers Hereditory Optic Neuropathy With Extra Ocular Symptoms (LHON-Plus) | Phase 1 / Phase 2 | Not yet recruiting | George Washington University | 24 | 2027-03-01 | 2026-10-05 |
| Study to Evaluate the Efficacy and Safety of Nizubaglustat (AZ-3102) in Patients With Gaucher Disease Type 3 (GD3) AZ-3102 - Gaucher Disease Type 3 | Phase 2 | Not yet recruiting | Azafaros B.V. | 20 | 2027-01-25 | 2026-11-12 |
| Single Injection of rAAV9-CMV-hNAGLUop Gene for Patients With Mucopolysaccharidosis (MPS) IIIB rAAV9-CMV-hNAGLUop - Sanfilippo Syndrome (MPS III) | Phase 1 / Phase 2 | Not yet recruiting | NeuroGT | 9 | 2027-01-18 | 2026-09-14 |
| 4SCAR-T Therapy Targeting GD2, PSMA and CD276 for Treating Neuroblastoma GD2, PSMA and CD276 CAR-T cells - Neuroblastoma | Phase 1 / Phase 2 | Not yet recruiting | Shenzhen Geno-Immune Medical Institute | 100 | 2026-12-31 | 2026-10-30 |
| 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 |
| Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of PLX-200 in Pediatric Patients (Master Protocol) PLX-200 - Lysosomal Storage Disorders, Sandhoff Disease | Phase 2 | Not yet recruiting | Polaryx Therapeutics, Inc. | 24 | 2026-12-01 | 2026-07-31 |
| Efficacy, Safety, Tolerability, and Pharmacokinetics of NBIP-01435 in Adult Participants With Classic Congenital Adrenal Hyperplasia (CAH) NBIP-01435 - Congenital Adrenal Hyperplasia | Phase 2 | Not yet recruiting | Neurocrine Biosciences | 36 | 2026-12-01 | 2026-09-30 |
| An Extension Study of S-606001 in Participants With Late-onset Pompe Disease (LOPD) S-606001, ERT - Pompe Disease | Phase 2 | Not yet recruiting | Shionogi | 60 | 2026-11-02 | 2026-10-13 |
| EDIT-401 in Adults Who Require Additional Lowering of Low-Density Lipoprotein Cholesterol (LDL-C) Drug: EDIT-401, Placebo - Heterozygous Familial Hypercholesterolemia (HeFH) | Phase 1 / Phase 2 | Not yet recruiting | Editas Medicine, Inc. | 56 | 2026-11-01 | 2026-10-26 |
| Safety and Efficacy of scAAV9/AGA Gene Therapy in Participants With Aspartylglucosaminuria (AGU) scAAV9/AGA - Aspartylglucosaminuria, Aspartylglucosamidase (AGA) Deficiency | Phase 1 / Phase 2 | Enrolling by invitation | Rare Trait Hope | 9 | 2026-11-01 | 2026-10-27 |
| Pilot Study of TTI-0102 in Cystinosis TTI-0102 (cysteamine-pantetheine disulfide) - Nephropathic Cystinosis, Cystinosis | Phase 2 | Not yet recruiting | Thiogenesis Therapeutics, Inc. | 6 | 2026-10-01 | 2026-09-23 |
| An Extension Trial of Asedebart in Participants With Congenital Adrenal Hyperplasia Asedebart - Adrenal Hyperplasia, Congenital | Phase 2 | Not yet recruiting | H. Lundbeck A/S | 45 | 2026-10-01 | 2026-10-05 |
| A Dose-ranging Study of TTI-0102 in Adults and Children With Leigh Syndrome Spectrum (LSS) TTI-0102: cysteamine-pantetheine disulfide, D-Mannitol - Leigh Syndrome | Phase 2 | Not yet recruiting | Thiogenesis Therapeutics, Inc. | 18 | 2026-10-01 | 2026-07-24 |
| 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 |
| Safety and Efficacy Study of GEB-101 Injection in Subjects With TGFBI-related Corneal Dystrophy GEB-101 Injection - Hereditary Corneal Dystrophy, Corneal Abnormality | Phase 1 / Phase 2 | Not yet recruiting | GenEditBio Limited | 30 | 2026-10-01 | 2026-09-10 |
| 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 |
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Gout (71) · Lysosomal Storage Diseases (44) · Hyperuricemia (37) · Fabry Disease (34) · Gaucher Disease (34) · Hyperlipoproteinemia Type II (34) · Mucopolysaccharidosis II (31) · Adrenal Hyperplasia, Congenital (30) · Genetic Diseases, Inborn (30) · Glycogen Storage Disease Type II (27) · Metabolic Diseases (27) · Mucopolysaccharidosis III (27) · Phenylketonurias (27) · Mucopolysaccharidosis I (25)
Nutritional and Metabolic Diseases (715) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (714) · Metabolic Diseases (689) · Genetic Diseases, Inborn (686) · Nervous System Diseases (326) · Brain Diseases (267) · Central Nervous System Diseases (266) · Brain Diseases, Metabolic, Inborn (263) · Brain Diseases, Metabolic (262) · Lysosomal Storage Diseases (211) · Lipid Metabolism, Inborn Errors (202) · Lipid Metabolism Disorders (198) · Carbohydrate Metabolism, Inborn Errors (181) · Lysosomal Storage Diseases, Nervous System (145)
Febuxostat (18) · Allopurinol (14) · Colchicine (14) · GAA protein, human (9) · asfotase alfa (9) · sapropterin (9) · Stem Cell Transplantation (8) · Cyclophosphamide (7) · agalsidase alfa (7) · idursulfase (7) · Acetylcysteine (6) · Busulfan (6) · Ganciclovir (6) · Hydrocortisone (6) · Mycophenolic Acid (6)
BioMarin Pharmaceutical (21) · Shire (20) · Genzyme, a Sanofi Company (19) · Alexion Pharmaceuticals, Inc. (18) · Novartis Pharmaceuticals (14) · Amicus Therapeutics (12) · National Center for Research Resources (NCRR) (10) · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (9) · JCR Pharmaceuticals Co., Ltd. (9) · Ultragenyx Pharmaceutical Inc (9) · Amgen (8) · Masonic Cancer Center, University of Minnesota (7) · ModernaTX, Inc. (7) · National Institute of Allergy and Infectious Diseases (NIAID) (7) · Takeda (7)
United States (433) · United Kingdom (159) · France (111) · Canada (95) · Germany (95) · Spain (78) · Italy (69) · Netherlands (60) · Australia (59) · Brazil (43) · China (32) · Belgium (26) · Japan (26) · Turkey (Türkiye) (26) · Denmark (25)
Paul Orchard, MD (7) · Forbes D Porter, M.D. (5) · Jaclyn Tamaroff, MD (3) · Mendel Tuchman, MD (3)
PMID 19775921, PMID 27657681, PMID 21586746, PMID 26529632, PMID 32417537, PMID 32593547, PMID 32762706, PMID 37624739, PMID 16911575, PMID 22547151, PMID 22961727, PMID 23176611, PMID 23348766, PMID 24014831, PMID 24144944, PMID 24795390, PMID 25421091, PMID 25919461, PMID 27400896, PMID 27494299, PMID 27699270, PMID 29526614, PMID 29688815, PMID 29976218, PMID 30467742, PMID 30558645, PMID 31353964, PMID 32107748, PMID 32721016, PMID 32884151, PMID 32951150, PMID 33325055, PMID 33332761, PMID 33482890, PMID 33980287, PMID 34146101, PMID 34349180, PMID 35835061, PMID 35961250, PMID 36196048, PMID 36299240, PMID 36481125, PMID 36507973, PMID 36919608, PMID 37915038, PMID 38101904, PMID 38776275, PMID 39151033, PMID 40193200, PMID 40267426
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