135 completed, 33 terminated, 27 active not recruiting, 17 recruiting. 255 Phase 2, 114 Phase 1, 34 Phase 3.
Follow Lysosomal Storage Diseases: new trials by email Literature Review of Lysosomal Storage Diseases trials Research Report on Lysosomal Storage Diseases
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 |
|---|---|---|---|---|---|---|
| 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 |
| 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 |
| 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 |
| A Phase I/II Clinical Study to Evaluate the Safety and Efficacy of VGN-R08b in Patients With Type III Gaucher's Disease VGN-R08b - Gaucher Disease Type 3 | Phase 1 / Phase 2 | Not yet recruiting | Shanghai Vitalgen BioPharma Co., Ltd. | 12 | 2026-05-14 | 2026-05-22 |
| Open-Label, Long-Term, Extension Study of Infigratinib in Children With Hypochondroplasia Infigratinib - Hypochondroplasia | Phase 2 | Enrolling by invitation | QED Therapeutics, a BridgeBio company | 135 | 2026-04-23 | 2026-08-26 |
| 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 Study to Evaluate the Safety and Efficacy of Nizubaglustat (AZ-3102) in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease AZ-3102 - GM2 Gangliosidosis, Niemann-Pick Type C Disease | Phase 2 | Active not recruiting | Azafaros B.V. | 21 | 2026-02-04 | 2026-10-21 |
| 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 |
| Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD) S-606001, Placebo - Pompe Disease | Phase 2 | Recruiting | Shionogi | 45 | 2025-10-30 | 2026-06-23 |
| A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents With Fabry Disease PRX-102 1 mg/kg every two weeks - Fabry Disease | Phase 2 / Phase 3 | Recruiting | Chiesi Farmaceutici S.p.A. | 22 | 2025-07-29 | 2026-08-10 |
| DFT383 in Pediatric Participants With Nephropathic Cystinosis DFT383 - Nephropathic Cystinosis | Phase 1 / Phase 2 | Recruiting | Novartis Pharmaceuticals | 30 | 2025-06-02 | 2026-10-16 |
| An Interventional Study of Infigratinib in Children With Hypochondroplasia infigratinib 0.128 mg/kg/day, infigratinib 0.25 mg/kg/day - Hypochondroplasia | Phase 2 / Phase 3 | Enrolling by invitation | QED Therapeutics, a BridgeBio company | 24 | 2025-04-22 | 2026-07-16 |
| The Safety and Efficacy of Intravenous EXG110 in Patients With Fabry Disease EXG110 Injection - Fabry Disease | Phase 1 / Phase 2 | Not yet recruiting | Guangzhou Jiayin Biotech Ltd | 16 | 2025-03-01 | 2025-02-11 |
| An Open Label Dose Escalation Study to Assess the Safety, Tolerability, and Pharmacologic Properties of High Dose Ambroxol Hydrochloride in Adult (≥ 18 Years of Age) Subjects With MPS III Ambroxol Hydrochloride 30 mg tablet - 9 mg/kg/day, Ambroxol Hydrochloride 30 mg tablet - 18 mg/kg/day, Ambroxol Hydrochloride 30 mg tablet - 27 mg/kg/day - Sanfilippo Syndrome, MPS3 | Phase 2 / Phase 3 | Unknown | Ozlem Goker-Alpan | 10 | 2024-12-01 | 2025-08-20 |
Showing 20 of 255. Sign in to see all of them.
Fabry Disease (34) · Gaucher Disease (34) · Mucopolysaccharidosis II (31) · Glycogen Storage Disease Type II (27) · Mucopolysaccharidosis III (27) · Mucopolysaccharidosis I (25) · Mucopolysaccharidosis IV (20) · Leukodystrophy, Metachromatic (19) · Genetic Diseases, Inborn (16) · Niemann-Pick Disease, Type C (16) · Sudden Infant Death (16) · Mucopolysaccharidoses (13) · Mucopolysaccharidosis VI (12) · Leukodystrophy, Globoid Cell (11)
Nutritional and Metabolic Diseases (255) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (254) · Metabolic Diseases (244) · Metabolism, Inborn Errors (244) · Genetic Diseases, Inborn (239) · Nervous System Diseases (175) · Brain Diseases (146) · Brain Diseases, Metabolic, Inborn (146) · Brain Diseases, Metabolic (145) · Lysosomal Storage Diseases, Nervous System (145) · Central Nervous System Diseases (144) · Carbohydrate Metabolism, Inborn Errors (130) · Lipid Metabolism, Inborn Errors (119) · Lipid Metabolism Disorders (117)
GAA protein, human (9) · Stem Cell Transplantation (8) · agalsidase alfa (7) · idursulfase (7) · Cyclophosphamide (6) · larazotide acetate (6) · migalastat (6) · 2-Hydroxypropyl-beta-cyclodextrin (5) · Enzyme Replacement Therapy (5) · GALNS protein, human (5) · Sebelipase alfa (5) · infigratinib (5) · Alemtuzumab (4) · Busulfan (4) · Glucosylceramidase (4)
Shire (20) · Genzyme, a Sanofi Company (19) · Amicus Therapeutics (12) · JCR Pharmaceuticals Co., Ltd. (9) · BioMarin Pharmaceutical (8) · Alexion Pharmaceuticals, Inc. (7) · Masonic Cancer Center, University of Minnesota (7) · National Institute of Neurological Disorders and Stroke (NINDS) (5) · QED Therapeutics, a BridgeBio company (5) · Azafaros B.V. (4) · Denali Therapeutics Inc. (4) · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (4) · LYSOGENE (4) · Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center (4) · Ultragenyx Pharmaceutical Inc (4)
United States (157) · United Kingdom (83) · France (57) · Germany (42) · Canada (36) · Spain (36) · Australia (30) · Brazil (30) · Italy (30) · Netherlands (20) · Israel (15) · Japan (14) · Denmark (13) · Turkey (Türkiye) (13) · Belgium (12)
Paul Orchard, MD (6) · Forbes D Porter, M.D. (3) · Alan H Cohen, MD (2) · Celeste Decker, MD (2) · Dugald Seely, ND (2) · Jens Fogh (2) · May Orfali, MD (2)
PMID 19775921, PMID 27657681, PMID 21586746, PMID 37624739, PMID 22547151, PMID 23176611, PMID 23348766, PMID 25421091, PMID 29526614, PMID 29976218, PMID 30467742, PMID 32884151, PMID 33332761, PMID 33482890, PMID 34349180, PMID 35835061, PMID 35961250, PMID 36196048, PMID 36299240, PMID 36481125, PMID 37915038, PMID 40267426, PMID 11231629, PMID 11399225, PMID 18346516, PMID 19595619, PMID 19892975, PMID 20299511, PMID 20439622, PMID 20713962, PMID 21150784, PMID 22794786, PMID 22929184, PMID 23339116, PMID 23474038, PMID 23497636, PMID 23570273, PMID 23837440, PMID 23845948, PMID 23860343, PMID 23966770, PMID 24816856, PMID 24835462, PMID 25323764, PMID 25425121, PMID 25758611, PMID 26252393, PMID 26331768, PMID 27211612, PMID 27289174
2015 (6), 2023 (5), 2014 (4), 2019 (4), 2004 (2), 2017 (2), 2018 (2), 2005 (1), 2008 (1), 2009 (1), 2016 (1), 2025 (1), P01HL059412 (1), U01HD090845 (1), U54NS065768 (1)