Lysosomal Storage Diseases: Clinical Trials

541 completed, 135 recruiting, 120 unknown, 90 terminated. 255 Phase 2, 188 Phase 1, 137 Phase 3, 114 Not applicable, 61 Phase 4.

By phase and status

Phase	Trials	Status
Phase 2	255	Completed 135, Terminated 33, Active not recruiting 28, Recruiting 16, Unknown 16, Withdrawn 10, Not yet recruiting 9, Enrolling by invitation 5, Suspended 3
Phase 1	188	Completed 107, Terminated 23, Active not recruiting 22, Recruiting 14, Withdrawn 7, Not yet recruiting 6, Unknown 4, Suspended 3, Enrolling by invitation 2
Phase 3	137	Completed 83, Active not recruiting 17, Terminated 10, Recruiting 9, Not yet recruiting 5, Unknown 5, Enrolling by invitation 4, Withdrawn 4
Not applicable	114	Completed 66, Unknown 16, Recruiting 14, Not yet recruiting 7, Terminated 5, Active not recruiting 4, Enrolling by invitation 1, Withdrawn 1
Phase 4	61	Completed 37, Terminated 7, Withdrawn 5, Recruiting 4, Unknown 4, Active not recruiting 2, Enrolling by invitation 1, Not yet recruiting 1
Early Phase 1	7	Recruiting 2, Active not recruiting 1, Completed 1, Not yet recruiting 1, Terminated 1, Unknown 1

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

Trials newest first · largest first

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 Study to Investigate the Safety, Pharmacokinetics (PK), and Efficacy of Garetosmab in Children and Adolescents With Fibrodysplasia Ossificans Progressiva (FOP) garetosmab - Fibrodysplasia Ossificans Progressiva, FOP	Phase 3	Not yet recruiting	Regeneron Pharmaceuticals	18	2027-02-02	2026-10-20
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
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
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
Intracerebroventricular Tralesinidase Alfa in Participants With MPS IIIB (Sanfilippo Syndrome Type B) Tralesinidase alfa (TA) - MPS IIIB	Phase 3	Not yet recruiting	Spruce Biosciences	14	2026-12-01	2026-09-21
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
MPS IIIA Disease Monitoring Program No Intervention - MPS IIIA, Sanfilippo Syndrome		Not yet recruiting	Ultragenyx Pharmaceutical Inc	55	2026-11-01	2026-10-02
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
Natural History to Assess Disease in Patients With MPS IIIC Sanfilippo Syndrome Type C, Mucopolysaccharidosis (MPS) IIIC		Not yet recruiting	Phoenix Nest	35	2026-11-01	2026-07-17
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
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
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 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

Showing 20 of 1081. Sign in to see all of them.

Narrower conditions

Fabry Disease (243)  ·  Gaucher Disease (175)  ·  Glycogen Storage Disease Type II (147)  ·  Mucopolysaccharidosis IV (101)  ·  Mucopolysaccharidosis II (77)  ·  Mucopolysaccharidosis I (74)  ·  Mucopolysaccharidosis III (58)  ·  Mucopolysaccharidoses (57)  ·  Leukodystrophy, Metachromatic (49)  ·  Cystinosis (47)  ·  Rare Diseases (40)  ·  Niemann-Pick Disease, Type C (37)  ·  Sudden Infant Death (37)  ·  Genetic Diseases, Inborn (36)

Broader conditions

Nutritional and Metabolic Diseases (1081)  ·  Congenital, Hereditary, and Neonatal Diseases and Abnormalities (1079)  ·  Metabolic Diseases (1047)  ·  Genetic Diseases, Inborn (1045)  ·  Metabolism, Inborn Errors (1045)  ·  Nervous System Diseases (789)  ·  Central Nervous System Diseases (713)  ·  Brain Diseases (711)  ·  Brain Diseases, Metabolic (708)  ·  Lysosomal Storage Diseases, Nervous System (708)  ·  Brain Diseases, Metabolic, Inborn (706)  ·  Lipid Metabolism, Inborn Errors (585)  ·  Lipid Metabolism Disorders (582)  ·  Lipidoses (580)

Interventions

GAA protein, human (36)  ·  agalsidase beta (28)  ·  migalastat (28)  ·  agalsidase alfa (24)  ·  larazotide acetate (19)  ·  Iduronidase (18)  ·  miglustat (18)  ·  idursulfase (15)  ·  Cysteamine (14)  ·  Glucosylceramidase (14)  ·  eliglustat (14)  ·  Blood Specimen Collection (13)  ·  imiglucerase (13)  ·  Enzyme Replacement Therapy (11)  ·  GALNS protein, human (11)

Sponsors

Genzyme, a Sanofi Company (77)  ·  Shire (54)  ·  Amicus Therapeutics (38)  ·  Sanofi (26)  ·  CENTOGENE GmbH Rostock (24)  ·  National Institute of Neurological Disorders and Stroke (NINDS) (22)  ·  BioMarin Pharmaceutical (20)  ·  Alexion Pharmaceuticals, Inc. (17)  ·  Duke University (16)  ·  Takeda (16)  ·  National Taiwan University Hospital (15)  ·  University of Minnesota (15)  ·  Chiesi Farmaceutici S.p.A. (14)  ·  Masonic Cancer Center, University of Minnesota (13)  ·  Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (12)

Countries

United States (559)  ·  United Kingdom (205)  ·  France (179)  ·  Germany (153)  ·  Italy (119)  ·  Canada (110)  ·  Spain (108)  ·  Australia (84)  ·  Brazil (82)  ·  Netherlands (66)  ·  Denmark (52)  ·  Taiwan (52)  ·  Turkey (Türkiye) (51)  ·  Argentina (49)  ·  Belgium (49)

Top investigators

Peter Bauer, Prof. (14)  ·  Ozlem Goker-Alpan, MD (10)  ·  Paul Orchard, MD (8)  ·  Forbes D Porter, M.D. (7)  ·  Joanne Kurtzberg, MD (5)  ·  Priya Kishnani, MD (5)  ·  Celeste Decker, MD (4)

Results publications

PMID 33874971, PMID 27657681, PMID 19775921, PMID 37624739, PMID 21586746, PMID 27839979, PMID 30467742, PMID 33332761, PMID 35709957, PMID 36279795, PMID 37415957, PMID 39847314, PMID 40525490, PMID 41631150, PMID 21637107, PMID 22547151, PMID 23176611, PMID 23348766, PMID 23860343, PMID 25421091, PMID 25795794, PMID 26048034, PMID 26053270, PMID 27509102, PMID 28476546, PMID 29526614, PMID 29976218, PMID 31303277, PMID 31889231, PMID 32063397, PMID 32884151, PMID 32994552, PMID 33482890, PMID 34349180, PMID 34353864, PMID 34387740, PMID 35342457, PMID 35835061, PMID 35961250, PMID 36196048, PMID 36299240, PMID 36481125, PMID 36739645, PMID 37915038, PMID 39774103, PMID 40155993, PMID 40267426, PMID 40817303, PMID 41527340, PMID 10665494

NIH funding

U54NS065768 (18), 2019 (12), 2015 (9), 2014 (7), 2023 (7), 2008 (4), 2009 (4), 2018 (4), 2017 (3), 2025 (3), 2004 (2), 2005 (2), 2016 (2), 1RC1DK086182 (1), 1UB1NS122644-01A1 (1)