Lysosomal Storage Diseases clinical trials
The registry lists 123 studies for Lysosomal Storage Diseases across more than 10 countries. 16 are recruiting or about to start. 16 of them are mainly about Lysosomal Storage Diseases (how this is decided). Per ClinicalTrials.gov, last updated 2026-11-12. Counting its 24 narrower conditions too, such as Fabry Disease: 1,086 studies, 214 open.
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Who runs them
BioMarin Pharmaceutical (9) · Shire (9) · Alexion Pharmaceuticals, Inc. (7) · CENTOGENE GmbH Rostock (6) · Ultragenyx Pharmaceutical Inc (4) · Amicus Therapeutics (4) · Duke University (4) · National Human Genome Research Institute (NHGRI) (3)
What is being tested here
Drugs under test in Lysosomal Storage Diseases studies, those with the most open studies first. Medicines only given beside them are not counted. How drugs are counted
Coming up
Studies recruiting or running, from their records. “Main data collection” ends at the primary completion date, the sponsor’s own estimate, which often moves.
The study
- Dec 2026A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry · University Hospital, Rouen
Who these studies take
Of the 12 Lysosomal Storage Diseases studies recruiting now, 5 (42%) set no upper age limit and 5 (42%) stop at 75 or younger. 9 (75%) take children under 18. 0 (0%) are for women only and 1 (8%) for men only; 1 (8%) take healthy volunteers.
| Age | Women | Men |
|---|---|---|
| 10 | 6 (50%) | 7 (58%) |
| 18 | 9 (75%) | 10 (83%) |
| 30 | 9 (75%) | 10 (83%) |
| 40 | 9 (75%) | 10 (83%) |
| 50 | 9 (75%) | 10 (83%) |
| 65 | 8 (67%) | 9 (75%) |
| 75 | 6 (50%) | 7 (58%) |
| 85 | 6 (50%) | 7 (58%) |
Across all 123 studies, recruiting or not: 41% stop at 75 or younger and 40% at 65; 80% take children; 1% are for women only and 13% for men only; 11% take healthy volunteers. From each study’s registry entry; the criteria on its page decide.
Studies
Recruiting first, then most recently updated. Showing 50 of 123. Browse all 123 → or search them.
- Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type CRecruitingNCT003443311 country
- Natural History of Glycosphingolipid Storage Disorders and Glycoprotein DisordersRecruitingNCT000299651 country
- Genetic Studies of Lysosomal Storage DisordersEnrolling by invitationNCT000012151 country
- DFT383 in Pediatric Participants With Nephropathic CystinosisRecruitingNCT06910813Phase 1/21 country
- 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)RecruitingNCT07282847Phase 1/21 country
- A Gene Therapy Study of RP-A501 in Male Patients With Danon DiseaseRecruitingNCT06092034Phase 24 countries
- A Long-Term Observational Study of Patients With FucosidosisRecruitingNCT076154006 countries
- Single Injection of rAAV9-CMV-hNAGLUop Gene for Patients With Mucopolysaccharidosis (MPS) IIIBNot yet recruitingNCT07818759Phase 1/21 country
- Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of PLX-200 in Pediatric Patients (Master Protocol)Not yet recruitingNCT07740512Phase 2
- Observational Study on Long-term Use of Pegunigalsidase Alfa in Fabry Patients in a Real-world SettingRecruitingNCT071093751 country
- A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass SpectrometryRecruitingNCT043937011 country
- Registry of Patients Diagnosed With Lysosomal Storage DiseasesRecruitingNCT056199001 country
- Longitudinal Study of Neurodegenerative DisordersRecruitingNCT033332001 country
- 4D-310 in Adults With Fabry Disease and Cardiac InvolvementRecruitingNCT05629559Phase 1/22 countries
- Nutritional Therapy in Late-onset Pompe DiseaseNot yet recruitingNCT06130228Phase 2
- Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD DatabaseRecruitingNCT046130891 country
- OTL-200 in Patients With Late Juvenile Metachromatic Leukodystrophy (MLD)Active, not recruitingNCT04283227Phase 31 country
- Long-term Follow-up Study to Evaluate Safety and Efficacy of FBX-101 in Krabbe PatientsTerminatedNCT063087181 country
- Gene Transfer Clinical Trial for Infantile and Late Infantile Krabbe Disease Treated Previously With HSCTActive, not recruitingNCT05739643Phase 1/21 country
- Dose-Ranging Study of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects With Fabry Disease (STAAR)CompletedNCT04046224Phase 1/27 countries
- NGS-Based Genetic Approach to Identify Rare Lysosomal Storage Disorders in Patients With Neurological ManifestationsActive, not recruitingNCT07863479Not applicable1 country
- Positron Emission Tomography (PET) Imaging in People With Gaucher MutationsCompletedNCT003021461 country
- A Multi-cohort Study of Safety, Efficacy, PK and PD of GNR-055 in Patients With Mucopolysaccharidosis Type IIActive, not recruitingNCT05208281Phase 2/31 country
- A Long Term Follow-Up Study of Fabry Disease Subjects Treated With FLT190TerminatedNCT04455230Phase 1/22 countries
- A Fabry Disease Gene Therapy StudyTerminatedNCT04040049Phase 1/27 countries
- High-Dose Ambroxol in Pediatric Type III Gaucher Disease (GD3)CompletedNCT07285369Not applicable1 country
- Study of Inborn Errors of Cholesterol Synthesis and Related DisordersTerminatedNCT000462021 country
- Stem Cell Gene Therapy for CystinosisCompletedNCT03897361Phase 1/21 country
- Study of Safety, Tolerability and Efficacy of PBGM01 in Pediatric Participants With GM1 GangliosidosisActive, not recruitingNCT04713475Phase 1/24 countries
- Study of Safety, Tolerability and Efficacy of PBKR03 in Pediatric Subjects With Early Infantile Krabbe DiseaseSuspendedNCT04771416Phase 1/26 countries
- A Safety and Efficacy Study of Cryopreserved OTL-200 for Treatment of Metachromatic Leukodystrophy (MLD)CompletedNCT03392987Phase 21 country
- The Natural History of Mucolipidosis Type IVTerminatedNCT010677421 country
- Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic DisordersCompletedNCT043996941 country
- Gene Therapy for Metachromatic Leukodystrophy (MLD)CompletedNCT01560182Phase 1/21 country
- Natural History Study of Infantile and Juvenile GM1 Gangliosidosis (GM1) PatientsCompletedNCT040411025 countries
- GM1 and GM2 Gangliosidosis PROspective Neurological Disease TrajectOry Study (PRONTO)CompletedNCT051097936 countries
- A Dose-escalation and Safety & Efficacy Study of AXO-AAV-GM2 in Tay-Sachs or Sandhoff DiseaseTerminatedNCT04669535Phase 11 country
- An Extension Study of HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Idursulfase-IT in Conjunction With Elaprase in Pediatric Participants With Hunter Syndrome and Cognitive ImpairmentCompletedNCT01506141Phase 1/23 countries
- CAMPSIITE™ RGX-121 Gene Therapy in Subjects With MPS II (Hunter Syndrome)Active, not recruitingNCT03566043Phase 2/32 countries
- Arimoclomol Prospective Study in Participants Diagnosed With Niemann-Pick Disease Type CCompletedNCT02612129Phase 2/39 countries
- A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE)Active, not recruitingNCT04093349Phase 1/28 countries
- A Study of the Tolerance, Safety, and Pharmacokinetics of GNR-055 in Healthy VolunteersCompletedNCT06475404Phase 11 country
- Fabry Disease in High-risk Patients With Left Ventricular Hypertrophy: Prevalence and Implementation of a Clinical ScoreActive, not recruitingNCT04943991Not applicable1 country
- A Study of Potential Treatment-Responsive Biomarkers and Clinical Outcomes in Hunter SyndromeCompletedNCT040075363 countries
- Study of the Effects of Fabrazyme Treatment on Lactation and InfantsTerminatedNCT00230607Phase 43 countries
- An Open-label, Phase 1/2 Trial of Gene Therapy 4D-310 in Adults With Fabry DiseaseActive, not recruitingNCT04519749Phase 1/21 country
- Open Label, Study Of Efficacy and Safety Of AVR-RD-01 for Treatment-Naive Subjects With Classic Fabry DiseaseTerminatedNCT03454893Phase 1/23 countries
- Longitudinal Studies of the GlycoproteinosesCompletedNCT018914221 country
- Long-Term Follow-up Study of Subjects With Fabry Disease Who Received Lentiviral Gene Therapy in Study AVRO-RD-01-201TerminatedNCT049990592 countries
- A Safety and Efficacy Study of LYS-GM101 Gene Therapy in Patients With GM1 GangliosidosisTerminatedNCT04273269Phase 1/23 countries