135 completed. 135 Phase 2, 57 Phase 1, 15 Phase 3.
| Phase | Trials | Status |
|---|---|---|
| Phase 2 | 135 | Completed 135 |
| Phase 1 | 57 | Completed 57 |
| Phase 3 | 15 | Completed 15 |
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 |
|---|---|---|---|---|---|---|
| PK and PD Study of NPI-001 and Cysteamine Bitartrate Cysteamine Bitartrate, N-Acetylcysteine Amide - Cystinosis | Phase 1 / Phase 2 | Completed | Nacuity Pharmaceuticals, Inc. | 8 | 2023-10-29 | 2026-10-13 |
| Phase 2 Study Evaluating the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Oral AZ-3102 in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease AZ-3102 (Dose 1), Placebo, AZ-3102 (Dose 2) - GM2 Gangliosidosis, Niemann-Pick Disease, Type C | Phase 2 | Completed | Azafaros B.V. | 13 | 2023-04-24 | 2026-05-14 |
| A Second-generation AI Based Therapeutic Regimen in Patients With Gaucher Disease Treated With Enzyme Replacement Therapy. Enzyme replacement therapy for Gaucher disease in combination with altus care application - Gaucher Disease Type 1 | Phase 2 | Completed | Hadassah Medical Organization | 5 | 2022-04-01 | 2023-09-22 |
| A Study to Evaluate Safety and Tolerability of Olipudase Alfa in Pediatric and Adult Participants With Acid Sphingomyelinase Deficiency (ASMD) Who Completed the DFI12712 or the LTS13632 Study in France Olipudase alfa - Acid Sphingomyelinase Deficiency | Phase 2 | Completed | Sanofi | 3 | 2021-11-18 | 2026-04-13 |
| An Extension Study of JR-171-101 Study in Patients With Mucopolysaccharidosis Type I (MPS I) JR-171 - Mucopolysaccharidosis I | Phase 1 / Phase 2 | Completed | JCR Pharmaceuticals Co., Ltd. | 14 | 2021-10-28 | 2025-08-28 |
| RGX-121 Gene Therapy in Children 5 Years of Age and Over With MPS II (Hunter Syndrome) RGX-121 - Mucopolysaccharidosis Type II (MPS II) | Phase 1 / Phase 2 | Completed | REGENXBIO Inc. | 6 | 2021-03-11 | 2025-01-28 |
| A Study of JR-171 in Patients With Mucopolysaccharidosis I JR-171 (lepunafusp alfa) - Mucopolysaccharidosis I | Phase 1 / Phase 2 | Completed | JCR Pharmaceuticals Co., Ltd. | 18 | 2020-09-01 | 2025-03-19 |
| Efficacy and Safety of mAnnitol in Bowel Preparation During Elective Colonoscopy and Comparison With Moviprep® Phase II: NTC015 low dose, Phase II: NTC015 medium dose, Phase II: NTC015 high dose - Elective Colonoscopy | Phase 2 / Phase 3 | Completed | NTC srl | 886 | 2020-06-18 | 2025-12-08 |
| Study of Infigratinib in Children With Achondroplasia Infigratinib 0.016 mg/kg, Infigratinib 0.032 mg/kg, Infigratinib 0.064 mg/kg - Achondroplasia | Phase 2 | Completed | QED Therapeutics, a BridgeBio company | 84 | 2020-03-10 | 2025-10-22 |
| Open-label Study of Anakinra in MPS III anakinra - Mucopolysaccharidosis III | Phase 1 / Phase 2 | Completed | Lynda E Polgreen | 24 | 2020-01-30 | 2024-10-22 |
| N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC) IB1001 - Niemann-Pick Disease, Type C | Phase 2 | Completed | IntraBio Inc | 33 | 2019-09-04 | 2023-11-28 |
| Dose-Ranging Study of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects With Fabry Disease (STAAR) ST-920 - Fabry Disease | Phase 1 / Phase 2 | Completed | Sangamo Therapeutics | 36 | 2019-07-23 | 2026-10-27 |
| Stem Cell Gene Therapy for Cystinosis CTNS-RD-04 (including CTNS-RD-04-LB manufactured with LentiBOOST) - Lysosomal Storage Diseases, Cystinosis | Phase 1 / Phase 2 | Completed | University of California, San Diego | 7 | 2019-07-08 | 2026-08-06 |
| N-Acetyl-L-Leucine for GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease) IB1001 - GM2 Gangliosidosis, Tay-Sachs Disease | Phase 2 | Completed | IntraBio Inc | 30 | 2019-06-07 | 2024-03-12 |
| A Study of Intrathecal SHP611 in Children With Metachromatic Leukodystrophy SHP611 - Metachromatic Leukodystrophy (MLD) | Phase 2 | Completed | Shire | 36 | 2019-05-13 | 2026-07-10 |
| Ambroxol Therapy for Patients With Type 1 Gaucher Disease and Suboptimal Response to Enzyme Replacement Therapy Ambroxol - Gaucher Disease, Type 1 | Phase 2 | Completed | Shaare Zedek Medical Center | 40 | 2019-03-01 | 2023-02-14 |
| Study of IV VTS-270 for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C VTS-270 - Niemann-Pick Disease, Type C | Phase 1 / Phase 2 | Completed | Washington University School of Medicine | 4 | 2019-02-22 | 2026-01-05 |
| A Study to Assess the Safety, Tolerability, and Efficacy of Long-term SOBI003 Treatment in Pediatric MPS IIIA Patients SOBI003 - Sanfilippo Syndrome Type A (MPS IIIA) | Phase 1 / Phase 2 | Completed | Swedish Orphan Biovitrum | 6 | 2019-01-19 | 2022-02-25 |
| A Study of JR-141 in Patients With Mucopolysaccharidosis II JR-141 - Mucopolysaccharidosis II | Phase 2 / Phase 3 | Completed | JCR Pharmaceuticals Co., Ltd. | 28 | 2018-08-01 | 2022-11-14 |
| A Study of JR-141 in Patients With Mucopolysaccharidosis II (BR21) JR-141 - Mucopolysaccharidosis II | Phase 2 | Completed | JCR Pharmaceuticals Co., Ltd. | 18 | 2018-07-26 | 2025-07-24 |
Showing 20 of 135. Sign in to see all of them.
Fabry Disease (19) · Gaucher Disease (15) · Glycogen Storage Disease Type II (15) · Mucopolysaccharidosis II (15) · Mucopolysaccharidosis I (14) · Leukodystrophy, Metachromatic (12) · Mucopolysaccharidosis III (11) · Mucopolysaccharidosis IV (9) · Niemann-Pick Disease, Type C (9) · Mucopolysaccharidoses (8) · Sudden Infant Death (7) · Genetic Diseases, Inborn (6) · Metabolic Diseases (6) · Metabolism, Inborn Errors (6)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (135) · Nutritional and Metabolic Diseases (135) · Genetic Diseases, Inborn (129) · Metabolic Diseases (129) · Metabolism, Inborn Errors (129) · Nervous System Diseases (97) · Brain Diseases (80) · Brain Diseases, Metabolic (80) · Brain Diseases, Metabolic, Inborn (80) · Central Nervous System Diseases (80) · Lysosomal Storage Diseases, Nervous System (79) · Carbohydrate Metabolism, Inborn Errors (68) · Lipid Metabolism Disorders (65) · Lipid Metabolism, Inborn Errors (65)
GAA protein, human (8) · agalsidase alfa (7) · larazotide acetate (5) · migalastat (5) · Sebelipase alfa (4) · Stem Cell Transplantation (4) · idursulfase (4) · miglustat (4) · olipudase alfa (4) · 2-Hydroxypropyl-beta-cyclodextrin (3) · AT2101 (3) · Busulfan (3) · Cyclophosphamide (3) · Cysteamine (3) · Enzyme Replacement Therapy (3)
Genzyme, a Sanofi Company (17) · Shire (17) · Amicus Therapeutics (10) · Alexion Pharmaceuticals, Inc. (5) · JCR Pharmaceuticals Co., Ltd. (5) · Masonic Cancer Center, University of Minnesota (5) · National Institute of Neurological Disorders and Stroke (NINDS) (5) · BioMarin Pharmaceutical (4) · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (3) · Protalix (3) · ArmaGen, Inc (2) · IntraBio Inc (2) · LYSOGENE (2) · Orchard Therapeutics (2) · Swedish Orphan Biovitrum (2)
United States (87) · United Kingdom (47) · France (39) · Germany (24) · Canada (20) · Spain (19) · Italy (18) · Brazil (17) · Australia (16) · Israel (13) · Netherlands (11) · Japan (9) · Belgium (7) · Denmark (7) · Turkey (Türkiye) (7)
Paul Orchard, MD (5) · Dugald Seely, ND (2) · Forbes D Porter, M.D. (2) · Patrice P Rioux, MD PhD (2) · Paul Harmatz, MD (2) · Allan M Lund, MD (1) · Ari Zimran (1) · Barry J Byrne, MD, PhD (1)
PMID 19775921, PMID 27657681, PMID 21586746, PMID 23176611, PMID 23348766, PMID 29976218, PMID 30467742, PMID 33482890, PMID 34349180, PMID 35835061, PMID 35961250, PMID 36481125, PMID 37915038, PMID 40267426, PMID 18346516, PMID 19595619, PMID 20299511, PMID 20439622, PMID 20713962, PMID 21150784, PMID 22547151, PMID 22794786, PMID 22929184, PMID 23339116, PMID 23474038, PMID 23497636, PMID 23570273, PMID 23837440, PMID 23860343, PMID 24816856, PMID 24835462, PMID 25323764, PMID 25421091, PMID 25425121, PMID 25758611, PMID 26252393, PMID 26331768, PMID 27211612, PMID 27289174, PMID 27307708, PMID 27866808, PMID 28119821, PMID 29305734, PMID 29526614, PMID 30025991, PMID 30528227, PMID 30595526, PMID 30834538, PMID 31719214, PMID 31839530
2015 (3), 2004 (2), 2014 (2), 2017 (2), 2005 (1), 2009 (1), 2016 (1), 2018 (1), 2019 (1), P01HL059412 (1), U01HD090845 (1), U54NS065768 (1)