Lysosomal Storage Diseases, Nervous System: Clinical Trials

343 completed, 102 recruiting, 86 unknown, 54 terminated. 146 Phase 2, 111 Phase 1, 84 Phase 3, 69 Not applicable, 45 Phase 4.

By phase and status

Phase	Trials	Status
Phase 2	146	Completed 79, Terminated 19, Active not recruiting 13, Recruiting 10, Unknown 9, Not yet recruiting 7, Withdrawn 7, Suspended 2
Phase 1	111	Completed 60, Terminated 14, Active not recruiting 11, Recruiting 10, Not yet recruiting 5, Unknown 4, Withdrawn 4, Suspended 2, Enrolling by invitation 1
Phase 3	84	Completed 52, Terminated 9, Active not recruiting 8, Recruiting 8, Withdrawn 3, Not yet recruiting 2, Unknown 2
Not applicable	69	Completed 39, Unknown 10, Recruiting 9, Active not recruiting 4, Not yet recruiting 3, Terminated 3, Enrolling by invitation 1
Phase 4	45	Completed 26, Terminated 5, Unknown 4, Withdrawn 4, Recruiting 3, Active not recruiting 2, Not yet recruiting 1
Early Phase 1	6	Recruiting 2, Active not recruiting 1, Not yet recruiting 1, Terminated 1, Unknown 1

Follow Lysosomal Storage Diseases, Nervous System: new trials by email Literature Review of Lysosomal Storage Diseases, Nervous System trials Research Report on Lysosomal Storage Diseases, Nervous System

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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	2026-11-02
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	2026-11-02
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	2026-10-30
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
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	Recruiting	Idorsia Pharmaceuticals Ltd.	16	2026-12-01	2026-11-03
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
MENA/Levant Epidemiological, Registry of Immunological & Clinical Traits (MERIT) Antiphospholipid (aPL)-Positive, Rheumatic Arthritis		Not yet recruiting	Axiom Bioregistry	5000	2026-10-18	2026-10-23
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
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
Parkinson's Disease in Type 1 Gaucher Disease Parkinson Disease (PD), Type 1 Gaucher Disease		Recruiting	Icahn School of Medicine at Mount Sinai	100	2026-09-21	2026-11-05
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
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
A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of DNL952 in Adult Participants With Late-Onset Pompe Disease DNL952 - Late-onset Pompe Disease	Phase 1	Recruiting	Denali Therapeutics Inc.	32	2026-05-12	2026-08-17

Showing 20 of 710. Sign in to see all of them.

Narrower conditions

Fabry Disease (243)  ·  Gaucher Disease (175)  ·  Glycogen Storage Disease Type II (147)  ·  Lysosomal Storage Diseases (63)  ·  Leukodystrophy, Metachromatic (49)  ·  Niemann-Pick Disease, Type C (37)  ·  Leukodystrophy, Globoid Cell (31)  ·  Niemann-Pick Diseases (27)  ·  Gangliosidoses, GM2 (26)  ·  Metabolism, Inborn Errors (24)  ·  Rare Diseases (24)  ·  Sandhoff Disease (24)  ·  Tay-Sachs Disease (24)  ·  Sphingolipidoses (23)  ·  Gangliosidosis, GM1 (22)

Broader conditions

Nutritional and Metabolic Diseases (710)  ·  Congenital, Hereditary, and Neonatal Diseases and Abnormalities (709)  ·  Brain Diseases (707)  ·  Brain Diseases, Metabolic (707)  ·  Brain Diseases, Metabolic, Inborn (705)  ·  Central Nervous System Diseases (704)  ·  Nervous System Diseases (703)  ·  Genetic Diseases, Inborn (696)  ·  Metabolic Diseases (696)  ·  Metabolism, Inborn Errors (686)  ·  Lysosomal Storage Diseases (647)  ·  Lipid Metabolism, Inborn Errors (560)  ·  Lipid Metabolism Disorders (557)  ·  Lipidoses (556)

Interventions

GAA protein, human (36)  ·  agalsidase beta (28)  ·  migalastat (28)  ·  agalsidase alfa (24)  ·  larazotide acetate (19)  ·  miglustat (18)  ·  Glucosylceramidase (14)  ·  eliglustat (14)  ·  imiglucerase (13)  ·  Blood Specimen Collection (11)  ·  taliglucerase alfa (11)  ·  2-Hydroxypropyl-beta-cyclodextrin (9)  ·  Enzyme Replacement Therapy (7)  ·  Stem Cell Transplantation (7)  ·  olipudase alfa (7)

Sponsors

Genzyme, a Sanofi Company (67)  ·  Amicus Therapeutics (38)  ·  Shire (34)  ·  Sanofi (26)  ·  National Institute of Neurological Disorders and Stroke (NINDS) (19)  ·  CENTOGENE GmbH Rostock (16)  ·  Duke University (15)  ·  National Taiwan University Hospital (15)  ·  University of Minnesota (11)  ·  Takeda (10)  ·  Protalix (9)  ·  Assistance Publique - Hôpitaux de Paris (8)  ·  Azafaros B.V. (8)  ·  Chiesi Farmaceutici S.p.A. (8)  ·  Pfizer (8)

Countries

United States (352)  ·  United Kingdom (123)  ·  France (111)  ·  Germany (98)  ·  Italy (77)  ·  Canada (69)  ·  Spain (65)  ·  Australia (57)  ·  Brazil (44)  ·  Israel (43)  ·  China (42)  ·  Taiwan (40)  ·  Netherlands (39)  ·  Denmark (37)  ·  Belgium (34)

Top investigators

Ozlem Goker-Alpan, MD (8)  ·  Peter Bauer, Prof. (8)  ·  Forbes D Porter, M.D. (6)  ·  Joanne Kurtzberg, MD (5)  ·  Paul Orchard, MD (5)  ·  Ari Zimran, MD (3)  ·  Arndt Rolfs, MD (3)

Results publications

PMID 27657681, PMID 19775921, PMID 21586746, PMID 27839979, PMID 33332761, PMID 36279795, PMID 37624739, PMID 39847314, PMID 40525490, PMID 41631150, PMID 21637107, PMID 23176611, PMID 23860343, PMID 25795794, PMID 26053270, PMID 27509102, PMID 28476546, PMID 31303277, 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 16267188, PMID 16546416, PMID 16849828, PMID 16900450, PMID 17179052, PMID 17230068, PMID 17656478, PMID 18346516, PMID 18729283, PMID 19129538, PMID 19150871, PMID 19277123

NIH funding

U54NS065768 (11), 2019 (8), 2015 (5), 2008 (4), 2014 (4), 2009 (3), 2018 (3), 2025 (3), 2005 (2), 2017 (2), 2023 (2), 2016 (1), K12CA120780 (1), P01HL059412 (1), R01HD073292 (1)