327 completed, 61 recruiting, 49 terminated, 34 active not recruiting. 532 Phase 1, 226 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 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 |
| 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 |
| Prenatal Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis Clinical Trial Gene Transfer with an AAV9 Vector Expressing Human ß-galactosidase - GM1 Gangliosidoses, GM1 Gangliosidosis, Type I | Phase 1 | Not yet recruiting | Tippi Mackenzie | 5 | 2027-01-01 | 2026-08-31 |
| Outside the Cage (OTC) Robotic Esophagectomy OTC MIE Esophagectomy - Esophageal Cancer | Phase 1 | Not yet recruiting | Centre hospitalier de l'Université de Montréal (CHUM) | 31 | 2027-01-01 | 2026-03-18 |
| 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 |
| 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 |
| 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 |
| A Study of S-606001 as Monotherapy in Participants With Late-onset Pompe Disease (LOPD) S-606001 - Pompe Disease | Phase 1 | Not yet recruiting | Shionogi | 15 | 2026-09-30 | 2026-08-26 |
| 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 |
| 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 |
| Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of OMS1620 OMS1620, Placebo - Congenital Adrenal Hyperplasia (CAH) | Phase 1 | Not yet recruiting | OMass Therapeutics Australia Proprietary Ltd | 84 | 2026-09-01 | 2026-09-09 |
| 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 |
| Phase I Exploratory Study of YOLT-203 in Patients With Primary Hyperoxaluria Type 1 (PH1) YOLT-203 - Primary Hyperoxaluria Type 1, PH1 | Phase 1 | Recruiting | YolTech Therapeutics Co., Ltd | 9 | 2026-08-01 | 2026-08-20 |
| Gene Therapy Trial for CLN6 Batten Disease scAAV9.CB.CLN6 (dose: 1.5E14 vector genomes) - CLN6, Batten Disease | Phase 1 / Phase 2 | Not yet recruiting | The Charlotte and Gwenyth Gray Foundation | 12 | 2026-08-01 | 2026-05-14 |
| AAVrh10-PCCA Gene Therapy for Propionic Acidemia AAVrh10-PCCA low dose, AAVrh10-PCCA middle dose, AAVrh10-PCCA high dose - Propionic Acidemia | Phase 1 | Recruiting | Mayo Clinic | 9 | 2026-07-20 | 2026-08-21 |
| A Trial to Examine if Repinatrabit is Processed Differently in Adults With Reduced Liver or Kidney Function Compared to Adults With Normal Liver and Kidney Function Repinatrabit - Phenylketonuria | Phase 1 | Recruiting | Otsuka Pharmaceutical Development & Commercialization, Inc. | 32 | 2026-07-17 | 2026-08-12 |
| High-Dose Vitamin C in G6PDA and Pyruvate Kinase Deficiency: A Safety Study Vitamin C - Pyruvate Kinase Deficiency, Glucose 6 Phosphate Dehydrogenase Deficiency | Phase 1 | Not yet recruiting | University of Utah | 3 | 2026-07-15 | 2026-05-28 |
Showing 20 of 532. Sign in to see all of them.
Gout (56) · Lecithin Cholesterol Acyltransferase Deficiency (50) · Lysosomal Storage Diseases (35) · Gaucher Disease (32) · Hyperuricemia (28) · Mucopolysaccharidosis I (28) · Phenylketonurias (24) · Fabry Disease (23) · Metabolic Diseases (23) · Genetic Diseases, Inborn (21) · Glycogen Storage Disease Type II (20) · Mucopolysaccharidosis II (20) · Mucopolysaccharidosis III (20) · Hyperlipoproteinemia Type II (19)
Nutritional and Metabolic Diseases (531) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (529) · Genetic Diseases, Inborn (511) · Metabolic Diseases (509) · Nervous System Diseases (252) · Central Nervous System Diseases (201) · Brain Diseases (200) · Brain Diseases, Metabolic (195) · Brain Diseases, Metabolic, Inborn (195) · Lipid Metabolism, Inborn Errors (188) · Lipid Metabolism Disorders (185) · Lysosomal Storage Diseases (153) · Carbohydrate Metabolism, Inborn Errors (118) · Lysosomal Storage Diseases, Nervous System (110)
Ganciclovir (10) · Acetaminophen (6) · Iduronidase (6) · eliglustat (6) · ruzinurad (6) · verinurad (6) · Acetylcysteine (5) · Sirolimus (5) · burosumab (5) · migalastat (5) · nitisinone (5) · 2-Hydroxypropyl-beta-cyclodextrin (4) · Allopurinol (4) · Injections (4) · Metformin (4)
IPCA Laboratories Ltd. (12) · Par Pharmaceutical, Inc. (11) · Alexion Pharmaceuticals, Inc. (10) · BioMarin Pharmaceutical (9) · Genzyme, a Sanofi Company (9) · Shire (9) · Ardea Biosciences, Inc. (8) · National Institute of Allergy and Infectious Diseases (NIAID) (8) · Amicus Therapeutics (7) · Dr. Reddy's Laboratories Limited (7) · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (7) · LG Chem (7) · ModernaTX, Inc. (7) · National Center for Research Resources (NCRR) (7) · Ultragenyx Pharmaceutical Inc (6)
United States (299) · United Kingdom (83) · Canada (49) · China (37) · Germany (37) · France (36) · Australia (34) · Netherlands (24) · Spain (23) · Brazil (19) · India (16) · Italy (15) · Israel (13) · Japan (13) · New Zealand (12)
Forbes D Porter, M.D. (4) · J. Hall, MD (4) · Joanne Kurtzberg, MD (4) · Celeste Decker, MD (3) · Karl Elmo Anderson (3) · Patrice Rioux, MD PhD (3) · Alan H Cohen, MD (2) · Amy Zhang, PhD (2)
PMID 37624739, PMID 41388232, PMID 22547151, PMID 25421091, PMID 25919461, PMID 29526614, PMID 29688815, PMID 29976218, PMID 33332761, PMID 33980287, PMID 35022448, PMID 35835061, PMID 36196048, PMID 36279795, PMID 36299240, PMID 37171121, PMID 38101904, PMID 38776275, PMID 11231629, PMID 11399225, PMID 14605787, PMID 14662594, PMID 15324318, PMID 15923132, PMID 16278898, PMID 17482283, PMID 18201934, PMID 18256395, PMID 18473686, PMID 18752978, PMID 19194885, PMID 19277123, PMID 19775921, PMID 19892975, PMID 19948615, PMID 20299511, PMID 20497190, PMID 20512995, PMID 20652413, PMID 21637107, PMID 22134099, PMID 22397652, PMID 22775199, PMID 22789058, PMID 22794786, PMID 23348766, PMID 23494656, PMID 23497636, PMID 23510062, PMID 23570273
2025 (6), 2015 (4), 2019 (4), 2018 (3), 2023 (3), 2016 (2), U54NS078059 (2), 2009 (1), 2014 (1), 2017 (1), K12CA120780 (1), K23NS087151 (1), M01RR001070 (1), P01HL059407 (1), P01HL059412 (1)