734 completed, 228 recruiting, 179 unknown, 120 terminated. 309 Phase 2, 258 Not applicable, 214 Phase 1, 169 Phase 3, 98 Phase 4.
Follow Brain Diseases, Metabolic: new trials by email Literature Review of Brain Diseases, Metabolic trials Research Report on Brain Diseases, Metabolic
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 |
|---|---|---|---|---|---|---|
| To Evaluate the Safety and Efficacy of GS1168 Injection in Adult Phenylketonuria GS1168 injection - Phenylketonuria (PKU) | Early Phase 1 | Not yet recruiting | Gritgen Therapeutics Co., Ltd. | 9 | 2027-12-31 | 2026-09-10 |
| Lentiviral Hematopoietic Stem Cell Gene Therapy for MLD Lentiviral TYF-ARSA correction of patient's autologous HSCs - Metachromatic Leukodystrophy (MLD) | Not applicable | Not yet recruiting | Shenzhen Geno-Immune Medical Institute | 10 | 2027-06-01 | 2026-09-01 |
| IT and IV Lentiviral Gene Therapy for X-ALD Intrathecal and intravenous LV gene therapy - X-linked Adrenoleukodystrophy | Not applicable | Not yet recruiting | Shenzhen Geno-Immune Medical Institute | 30 | 2027-06-01 | 2026-09-01 |
| Direct Lentiviral Injection Gene Therapy for MLD Intrathecal and intravenous LV gene therapy - Metachromatic Leukodystrophy (MLD) | Not applicable | Not yet recruiting | Shenzhen Geno-Immune Medical Institute | 10 | 2027-05-31 | 2026-09-01 |
| 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 |
| A Survey to Assess Participants', Caregivers', and Nurses' Use and Understanding of Educational Material on Velaglucerase Alfa (VPRIV) Home Infusion Gaucher Disease | Not yet recruiting | Takeda | 60 | 2027-01-31 | 2026-10-01 | |
| 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 | 2026-09-01 |
| 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 |
| 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 |
| Therapeutic Implications of CMR Low Native T1 in Non-treated Non-hypertrophic Females With Fabry Disease (FD) Decision tree for initiating treatment - Fabry Disease | Not applicable | Not yet recruiting | University Hospital, Bordeaux | 60 | 2026-11-01 | 2026-10-14 |
| Microbiota trAnSplant ThERaPy In hEpatiC Encephalopathy (MASTERPIECE) Microbiota transplant therapy (MTT) capsules, Placebo capsule - Hepatic Encephalopathy, Cirrhosis | Phase 2 | Not yet recruiting | VA Office of Research and Development | 162 | 2026-10-30 | 2026-04-14 |
| Market Research of a Slow Release Protein Substitute for the Dietary Management of PKU Slow release, phenylalanine-free protein substitute tablets - Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn | Not applicable | Not yet recruiting | metaX Institut fuer Diatetik GmbH | 10 | 2026-10-15 | 2026-10-15 |
| Pre-emptive RTO for An Early Detected Gastric Varices in CT/MR Angiogram Trial Non-selective beta blockers, Retrograde transvenous obliteration - Gastric Varices | Not applicable | Not yet recruiting | University of California, Los Angeles | 68 | 2026-10-01 | 2026-07-02 |
| PKU Microtablets Case Studies PKU Microtablet protein substitute - Phenylketonuria (PKU) | Not applicable | Not yet recruiting | Nutricia UK Ltd | 20 | 2026-10-01 | 2026-09-23 |
| Electronic PHES vs Paper-based PHES for Hepatic Encephalopathy Paper-based Psychometric Hepatic Encephalopathy Score (PHES), Electronic Psychometric Hepatic Encephalopathy Score (PHES) - Liver Cirrhosis, Hepatic Encephalopathy | Not applicable | Not yet recruiting | The First Affiliated Hospital with Nanjing Medical University | 80 | 2026-10-01 | 2026-10-01 |
| A Prospective Cohort Study on the Epidemiological Investigation, Diagnosis, and Treatment of Hepatic Encephalopathy wechat mini-program - Hepatic Encephalopathy, Minimal Hepatic Encephalopathy | Not yet recruiting | The First Affiliated Hospital with Nanjing Medical University | 700 | 2026-10-01 | 2026-10-01 | |
| 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 |
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Fabry Disease (243) · Hepatic Encephalopathy (217) · Phenylketonurias (188) · Gaucher Disease (175) · Glycogen Storage Disease Type II (146) · Hepatolenticular Degeneration (79) · Fibrosis (73) · Urea Cycle Disorders, Inborn (65) · Lysosomal Storage Diseases (63) · Adrenoleukodystrophy (62) · Liver Cirrhosis (61) · Ornithine Carbamoyltransferase Deficiency Disease (59) · Metabolism, Inborn Errors (54) · Leukodystrophy, Metachromatic (49) · Rare Diseases (43)
Nutritional and Metabolic Diseases (1515) · Nervous System Diseases (1508) · Central Nervous System Diseases (1507) · Brain Diseases (1500) · Metabolic Diseases (1485) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (1290) · Brain Diseases, Metabolic, Inborn (1265) · Genetic Diseases, Inborn (1255) · Metabolism, Inborn Errors (1225) · Lysosomal Storage Diseases, Nervous System (707) · Lysosomal Storage Diseases (647) · Lipid Metabolism, Inborn Errors (564) · Lipid Metabolism Disorders (561) · Lipidoses (557)
sapropterin (37) · GAA protein, human (36) · Lactulose (36) · agalsidase beta (28) · migalastat (28) · Rifaximin (26) · agalsidase alfa (24) · Blood Specimen Collection (20) · larazotide acetate (19) · miglustat (18) · pegvaliase (16) · Glucosylceramidase (14) · eliglustat (14) · imiglucerase (13) · glycerol phenylbutyrate (12)
Genzyme, a Sanofi Company (67) · Amicus Therapeutics (38) · BioMarin Pharmaceutical (38) · Shire (34) · Sanofi (27) · Assistance Publique - Hôpitaux de Paris (23) · National Institute of Neurological Disorders and Stroke (NINDS) (19) · CENTOGENE GmbH Rostock (18) · National Taiwan University Hospital (17) · Duke University (15) · Amgen (14) · Assiut University (14) · National Center for Research Resources (NCRR) (14) · Alexion Pharmaceuticals, Inc. (13) · University of Minnesota (13)
United States (706) · United Kingdom (226) · France (191) · Germany (167) · Italy (138) · Canada (128) · Spain (119) · China (101) · Australia (87) · Netherlands (75) · Denmark (66) · Belgium (58) · Brazil (56) · India (55) · Israel (54)
Peter Bauer, Prof. (9) · Anita MacDonald (8) · Ozlem Goker-Alpan, MD (8) · Paul Orchard, MD (7) · Forbes D Porter, M.D. (6) · Joanne Kurtzberg, MD (5) · Michio Hirano, MD (5)
PMID 37467180, PMID 24144944, PMID 27657681, PMID 19775921, PMID 21586746, PMID 22961727, PMID 27839979, PMID 32593547, PMID 33332761, PMID 36279795, PMID 37624739, PMID 39383458, PMID 39847314, PMID 40411344, PMID 40525490, PMID 41631150, PMID 20188616, PMID 20335583, PMID 21637107, PMID 23176611, PMID 23860343, PMID 23872605, PMID 25795794, PMID 26053270, PMID 27509102, PMID 27720916, PMID 28465125, PMID 28476546, PMID 28506905, PMID 31038755, PMID 31303277, PMID 31889231, PMID 32994552, PMID 33325055, PMID 33482890, PMID 34349180, PMID 34387740, PMID 34826353, PMID 35313729, PMID 36196048, PMID 36481125, PMID 36739645, PMID 38349709, PMID 39383459, PMID 39774103, PMID 40155993, PMID 40267426, PMID 40817303, PMID 41527340, PMID 41989430
2018 (11), 2019 (11), U54NS065768 (11), 2025 (8), 2015 (7), 2014 (6), 2008 (5), 2009 (5), 2023 (5), U54NS078059 (4), 2016 (3), 2017 (3), U54HD061221 (3), 2005 (2), P01HD032062 (2)