271 completed, 81 recruiting, 67 unknown, 45 terminated. 118 Phase 2, 90 Phase 1, 76 Phase 3, 50 Not applicable, 26 Phase 4.
Follow Sphingolipidoses: new trials by email Literature Review of Sphingolipidoses trials Research Report on Sphingolipidoses
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 |
|---|---|---|---|---|---|---|
| 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 |
| 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 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 |
| 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 |
| 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 |
| Parkinson's Disease in Type 1 Gaucher Disease Parkinson Disease (PD), Type 1 Gaucher Disease | Recruiting | Icahn School of Medicine at Mount Sinai | 100 | 2026-10-01 | 2026-10-21 | |
| 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 | 2026-09-28 | 2026-07-20 |
| Nutritional Status of Gaucher Disease Patients Gaucher Disease | Not yet recruiting | Assiut University | 84 | 2026-09-26 | 2026-09-28 | |
| Study of Velaglucerase Beta ERT in Children With Gaucher Disease Velaglucerase beta - Gaucher Disease, Gaucher Disease Type 1 | Phase 3 | Not yet recruiting | CANbridge Life Sciences Ltd. | 10 | 2026-09-16 | 2026-09-29 |
| A Study to Learn How Well Lucerastat Works and How Safe it is in Untreated Adult Male Participants With Fabry Disease Lucerastat - Fabry Disease | Phase 3 | Not yet recruiting | Idorsia Pharmaceuticals Ltd. | 16 | 2026-09-01 | 2026-08-21 |
| Quality of Life in Adults With Untreated Fabry Disease in Sweden (QoLUF) Qualitative Interview - Fabry Disease | Enrolling by invitation | Vastra Gotaland Region | 35 | 2026-08-21 | 2026-08-27 | |
| Observational Study on Long-term Use of Pegunigalsidase Alfa in Fabry Patients in a Real-world Setting pegunigalsidase alfa - Fabry Disease | Recruiting | Chiesi Italia | 75 | 2026-06-15 | 2026-07-08 | |
| 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 |
| Advancing Integrated Therapies for Gaucher Disease Gaucher Disease | Recruiting | Yale University | 30 | 2026-05-06 | 2026-08-11 | |
| Periodontal Disease in Rare Renal Disorders (PERIO-RA-RE) Observational assessment - Periodontal Disease, Periodontitis | Recruiting | Stefan Lujinschi | 100 | 2026-05-04 | 2026-06-26 | |
| Translational Potential of ex Vivo Gene Therapy in GM2 Gangliosidosis blood sample - Tay-Sachs Disease Ganglioside, Sandhoff Disease Ganglioside | Not yet recruiting | Assistance Publique - Hôpitaux de Paris | 6 | 2026-05-01 | 2026-03-06 | |
| A Gaucher Disease Gene Therapy Trial With FLT201 FLT201 - Gaucher Disease Type 1 | Phase 3 | Recruiting | Spur Therapeutics | 45 | 2026-04-07 | 2026-10-14 |
Showing 20 of 562. Sign in to see all of them.
Fabry Disease (243) · Gaucher Disease (175) · Lysosomal Storage Diseases (54) · Leukodystrophy, Metachromatic (49) · Niemann-Pick Disease, Type C (37) · Leukodystrophy, Globoid Cell (31) · Niemann-Pick Diseases (27) · Gangliosidoses, GM2 (26) · Sandhoff Disease (24) · Tay-Sachs Disease (24) · Gangliosidosis, GM1 (22) · Metabolism, Inborn Errors (22) · Rare Diseases (21) · Adrenoleukodystrophy (20)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (562) · Nutritional and Metabolic Diseases (562) · Lysosomal Storage Diseases, Nervous System (561) · Lipid Metabolism, Inborn Errors (560) · Brain Diseases (559) · Brain Diseases, Metabolic (559) · Brain Diseases, Metabolic, Inborn (558) · Central Nervous System Diseases (556) · Lipidoses (556) · Lipid Metabolism Disorders (555) · Nervous System Diseases (555) · Metabolic Diseases (550) · Genetic Diseases, Inborn (549) · Metabolism, Inborn Errors (540)
agalsidase beta (28) · migalastat (28) · agalsidase alfa (24) · larazotide acetate (19) · Glucosylceramidase (14) · eliglustat (14) · imiglucerase (13) · miglustat (11) · taliglucerase alfa (11) · 2-Hydroxypropyl-beta-cyclodextrin (9) · Blood Specimen Collection (9) · Enzyme Replacement Therapy (7) · olipudase alfa (7) · Stem Cell Transplantation (6) · venglustat (6)
Genzyme, a Sanofi Company (34) · Shire (34) · Amicus Therapeutics (29) · Sanofi (22) · National Institute of Neurological Disorders and Stroke (NINDS) (18) · CENTOGENE GmbH Rostock (14) · University of Minnesota (11) · Takeda (10) · Protalix (9) · Azafaros B.V. (8) · Chiesi Farmaceutici S.p.A. (8) · Pfizer (8) · Assistance Publique - Hôpitaux de Paris (7) · Shaare Zedek Medical Center (7) · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (6)
United States (268) · United Kingdom (99) · France (84) · Germany (68) · Canada (59) · Italy (58) · Spain (55) · Australia (47) · Brazil (41) · Israel (37) · China (34) · Argentina (30) · Denmark (27) · Poland (27) · Turkey (Türkiye) (26)
Ozlem Goker-Alpan, MD (7) · Forbes D Porter, M.D. (6) · Peter Bauer, Prof. (6) · Joanne Kurtzberg, MD (4) · Paul Orchard, MD (4) · Ari Zimran, MD (3) · Arndt Rolfs, MD (3) · Jeanine R. Jarnes, PharmD (3)
PMID 27657681, PMID 21586746, PMID 27839979, PMID 33332761, PMID 36279795, PMID 37624739, PMID 39847314, PMID 40525490, PMID 23176611, PMID 23860343, PMID 25795794, PMID 26053270, PMID 27509102, PMID 28476546, PMID 31889231, PMID 32994552, PMID 33482890, PMID 34349180, PMID 34387740, PMID 36196048, PMID 36481125, PMID 36739645, PMID 39774103, PMID 40155993, PMID 40267426, PMID 40817303, PMID 41527340, PMID 10665494, PMID 11231629, PMID 11399225, PMID 14578207, PMID 15100373, PMID 15324318, PMID 1603628, PMID 16546416, PMID 17179052, PMID 17230068, PMID 17656478, PMID 18346516, PMID 18729283, PMID 19150871, PMID 19277123, PMID 19515805, PMID 19595619, PMID 19892975, PMID 19948615, PMID 20299511, PMID 20439622, PMID 20713962, PMID 20730727
U54NS065768 (10), 2019 (5), 2008 (4), 2014 (4), 2015 (4), 2009 (3), 2018 (3), 2017 (2), 2023 (2), 2005 (1), 2016 (1), 2025 (1), K12CA120780 (1), R01HD073292 (1), R01HD104814 (1)