Lysosomal Storage Diseases: all 123 studies
Page 1 of 2. Open to participants first (16), then studies with results posted, then the rest; newest registration first within each.
- Single Injection of rAAV9-CMV-hNAGLUop Gene for Patients With Mucopolysaccharidosis (MPS) IIIBNot yet recruitingNCT07818759Phase 1/2
- Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of PLX-200 in Pediatric Patients (Master Protocol)Not yet recruitingNCT07740512Phase 2
- A Long-Term Observational Study of Patients With FucosidosisRecruitingNCT07615400
- 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 1/2
- Observational Study on Long-term Use of Pegunigalsidase Alfa in Fabry Patients in a Real-world SettingRecruitingNCT07109375
- DFT383 in Pediatric Participants With Nephropathic CystinosisRecruitingNCT06910813Phase 1/2
- Nutritional Therapy in Late-onset Pompe DiseaseNot yet recruitingNCT06130228Phase 2
- A Gene Therapy Study of RP-A501 in Male Patients With Danon DiseaseRecruitingNCT06092034Phase 2
- 4D-310 in Adults With Fabry Disease and Cardiac InvolvementRecruitingNCT05629559Phase 1/2
- Registry of Patients Diagnosed With Lysosomal Storage DiseasesRecruitingNCT05619900
- Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD DatabaseRecruitingNCT04613089
- A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass SpectrometryRecruitingNCT04393701
- Longitudinal Study of Neurodegenerative DisordersRecruitingNCT03333200
- Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type CRecruitingNCT00344331
- Natural History of Glycosphingolipid Storage Disorders and Glycoprotein DisordersRecruitingNCT00029965
- Genetic Studies of Lysosomal Storage DisordersEnrolling by invitationNCT00001215
- A Dose-escalation and Safety & Efficacy Study of AXO-AAV-GM2 in Tay-Sachs or Sandhoff DiseaseTerminatedNCT04669535Phase 1Results posted
- A Long Term Follow-Up Study of Fabry Disease Subjects Treated With FLT190TerminatedNCT04455230Phase 1/2Results posted
- Dose-Ranging Study of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects With Fabry Disease (STAAR)CompletedNCT04046224Phase 1/2Results posted
- A Fabry Disease Gene Therapy StudyTerminatedNCT04040049Phase 1/2Results posted
- Stem Cell Gene Therapy for CystinosisCompletedNCT03897361Phase 1/2Results posted
- Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged 12 to <18 Years)CompletedNCT03500094Phase 3Results posted
- Open Label, Study Of Efficacy and Safety Of AVR-RD-01 for Treatment-Naive Subjects With Classic Fabry DiseaseTerminatedNCT03454893Phase 1/2Results posted
- Arimoclomol Prospective Study in Participants Diagnosed With Niemann-Pick Disease Type CCompletedNCT02612129Phase 2/3Results posted
- A Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Therapy in Subjects With Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7)CompletedNCT02432144Phase 3Results posted
- Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Treatment in Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) Patients Less Than 5 Years of AgeCompletedNCT02418455Phase 2Results posted
- Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 in Mucopolysaccharidosis III, Type B (MPS IIIB)CompletedNCT02324049Phase 1/2Results posted
- A Phase 3 Study of UX003 Recombinant Human Betaglucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7)CompletedNCT02230566Phase 3Results posted
- Safety and Efficacy Study of Sebelipase Alfa in Participants With Lysosomal Acid Lipase DeficiencyCompletedNCT02112994Phase 2Results posted
- Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of rhHNS Administration Via an IDDD in Pediatric Patients With Early Stage MPS IIIA DiseaseCompletedNCT02060526Phase 2Results posted
- Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive ImpairmentCompletedNCT02055118Phase 2/3Results posted
- An Open-Label Phase 1/2 Study to Assess the Safety, Efficacy and Dose of Study Drug UX003 Recombinant Human Beta-glucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7)CompletedNCT01856218Phase 1/2Results posted
- Acid Lipase Replacement Investigating Safety and Efficacy (ARISE) in Participants With Lysosomal Acid Lipase DeficiencyCompletedNCT01757184Phase 3Results posted
- Efficacy and Safety Study of BMN 110 for Morquio A Syndrome Patients Who Have Limited AmbulationTerminatedNCT01697319Phase 2Results posted
- Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal DisordersCompletedNCT01626092Not applicableResults posted
- Safety and Exercise Study of Two Doses of BMN 110 for Morquio A SyndromeTerminatedNCT01609062Phase 2Results posted
- Study of BMN 110 in Pediatric Patients < 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome)CompletedNCT01515956Phase 2Results posted
- 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 1/2Results posted
- Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 (Sebelipase Alfa) in Adult Subjects With Lysosomal Acid Lipase DeficiencyCompletedNCT01488097Phase 2Results posted
- Study in Healthy Adults to Determine the Effect That Food Has on the Absorption and Delivery of the Drug Cystagon™CompletedNCT01432561Not applicableResults posted
- Long-Term Efficacy and Safety Extension Study of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)CompletedNCT01415427Phase 3Results posted
- Safety, Tolerability and Pharmacokinetics of SBC-102 (Sebelipase Alfa) in Adult Participants With Lysosomal Acid Lipase DeficiencyCompletedNCT01307098Phase 1/2Results posted
- Extension of Study HGT-SAN-055 Evaluating Administration of rhHNS in Patients With Sanfilippo Syndrome Type A (MPS IIIA)TerminatedNCT01299727Phase 1/2Results posted
- A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)CompletedNCT01275066Phase 3Results posted
- A Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)TerminatedNCT01242111Phase 1/2Results posted
- Safety, Tolerability, Ascending Dose and Dose Frequency Study of rhHNS Via an IDDD in MPS IIIA PatientsCompletedNCT01155778Phase 1/2Results posted
- A Safety and Dose Ranging Study of Idursulfase (Intrathecal) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Hunter Syndrome Who Have Central Nervous System Involvement and Are Receiving Treatment With Elaprase®CompletedNCT00920647Phase 1/2Results posted
- A Study to Evaluate the Safety, Tolerability and Efficacy of BMN 110 in Subjects With Mucopolysaccharidosis IVACompletedNCT00884949Phase 1/2Results posted
- An Observational Study Evaluating Anti-Idursulfase Serum Antibody Response in Hunter Syndrome PatientsCompletedNCT00882921Results posted
- Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant DisordersCompletedNCT00744692Phase 1Results posted
- Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human GlucocerebrosidaseCompletedNCT00712348Phase 3Results posted
- Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving IdursulfaseCompletedNCT00630747Phase 2/3Results posted
- Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase TherapyCompletedNCT00607386Phase 4Results posted
- Study of the Effects of Fabrazyme Treatment on Lactation and InfantsTerminatedNCT00230607Phase 4Results posted
- NGS-Based Genetic Approach to Identify Rare Lysosomal Storage Disorders in Patients With Neurological ManifestationsActive, not recruitingNCT07863479Not applicable
- High-Dose Ambroxol in Pediatric Type III Gaucher Disease (GD3)CompletedNCT07285369Not applicable
- A Study of the Tolerance, Safety, and Pharmacokinetics of GNR-055 in Healthy VolunteersCompletedNCT06475404Phase 1
- Long-term Follow-up Study to Evaluate Safety and Efficacy of FBX-101 in Krabbe PatientsTerminatedNCT06308718
- Gene Transfer Clinical Trial for Infantile and Late Infantile Krabbe Disease Treated Previously With HSCTActive, not recruitingNCT05739643Phase 1/2
- A Multi-cohort Study of Safety, Efficacy, PK and PD of GNR-055 in Patients With Mucopolysaccharidosis Type IIActive, not recruitingNCT05208281Phase 2/3
- GM1 and GM2 Gangliosidosis PROspective Neurological Disease TrajectOry Study (PRONTO)CompletedNCT05109793
- Long-Term Follow-up Study of Subjects With Fabry Disease Who Received Lentiviral Gene Therapy in Study AVRO-RD-01-201TerminatedNCT04999059
- Fabry Disease in High-risk Patients With Left Ventricular Hypertrophy: Prevalence and Implementation of a Clinical ScoreActive, not recruitingNCT04943991Not applicable
- Study of Safety, Tolerability and Efficacy of PBKR03 in Pediatric Subjects With Early Infantile Krabbe DiseaseSuspendedNCT04771416Phase 1/2
- Study of Safety, Tolerability and Efficacy of PBGM01 in Pediatric Participants With GM1 GangliosidosisActive, not recruitingNCT04713475Phase 1/2
- A Multi-cohort Study of the Tolerance, Safety, and Pharmacokinetics of GNR-055 in Healthy VolunteersCompletedNCT04539340Phase 1
- An Open-label, Phase 1/2 Trial of Gene Therapy 4D-310 in Adults With Fabry DiseaseActive, not recruitingNCT04519749Phase 1/2
- Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic DisordersCompletedNCT04399694
- Interviews and Video Capture in Patients With GM1 GangliosidosisCompletedNCT04310163
- OTL-200 in Patients With Late Juvenile Metachromatic Leukodystrophy (MLD)Active, not recruitingNCT04283227Phase 3
- A Safety and Efficacy Study of LYS-GM101 Gene Therapy in Patients With GM1 GangliosidosisTerminatedNCT04273269Phase 1/2
- Complement Activation in the Lysosomal Storage DisordersWithdrawnNCT04189601
- A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE)Active, not recruitingNCT04093349Phase 1/2
- Natural History Study of Infantile and Juvenile GM1 Gangliosidosis (GM1) PatientsCompletedNCT04041102
- A Study of Potential Treatment-Responsive Biomarkers and Clinical Outcomes in Hunter SyndromeCompletedNCT04007536
- Neutralizing Antibody Seroprevalence Study With a Retrospective Component in Participants With Late-Onset Pompe DiseaseCompletedNCT03893240Not applicable
- A Natural History Study of AspartylglucosaminuriaTerminatedNCT03853876
- Cellular Pharmacodynamics of Small Molecules in Lysosomal Storage DisordersStatus unknownNCT03812055
- Screening of Lysosomal Storage Disorders Diseases in Minority GroupsStatus unknownNCT03812042
- BPX-501 T Cells Infused Post Stem Cell Transplant in Pediatrics With Non-Malignant Disorders Ineligible for BPU004 StudyNo longer availableNCT03639844
- Study of AAVrh10-h.SGSH Gene Therapy in Patients With Mucopolysaccharidosis Type IIIA (MPS IIIA)Status unknownNCT03612869Phase 2/3
- CAMPSIITE™ RGX-121 Gene Therapy in Subjects With MPS II (Hunter Syndrome)Active, not recruitingNCT03566043Phase 2/3
- A Safety and Efficacy Study of Cryopreserved OTL-200 for Treatment of Metachromatic Leukodystrophy (MLD)CompletedNCT03392987Phase 2
- Farber Disease Natural History StudyCompletedNCT03233841
- Lipidomics and Functional Analyses of Platelets in Fabry DiseaseStatus unknownNCT02649660
- A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type CCompletedNCT02435030
- Lyso-Gb1 as a Long-term Prognostic Biomarker in Gaucher DiseaseCompletedNCT02416661
- Biomarker for Glycogen Storage Diseases (BioGlycogen)WithdrawnNCT02385162
- An Expanded Access Protocol for Sebelipase Alfa for Patients With Lysosomal Acid Lipase DeficiencyNo longer availableNCT02376751
- Diet and Exercise in Pompe DiseaseCompletedNCT02363153Not applicable
- Biomarker for Hurler Disease (BioHurler)WithdrawnNCT02298712
- Biomarker for Farber Disease (BioFarber)WithdrawnNCT02298634
- Investigating Lysosomal Storage Diseases in Minority GroupsStatus unknownNCT02120235
- An Open-Label Treatment Protocol With UX003 rhGUS Enzyme Replacement Therapy for an Advanced Stage MPS 7 PatientNo longer availableNCT02097251
- A Phase 1 Study To Evaluate the Safety of Migalastat Hydrochloride Given Intravenously to Healthy VolunteersCompletedNCT02082327Phase 1
- Molecular and Cellular Mechanisms of Lysosomal Storage DiseasesStatus unknownNCT02000310
- Natural History Study of Children With Metachromatic LeukodystrophyTerminatedNCT01963650
- Longitudinal Studies of the GlycoproteinosesCompletedNCT01891422
- BMN 110 US Expanded Access ProgramApproved for marketingNCT01858103
- Identification of Undiagnosed Gaucher DiseaseStatus unknownNCT01716741Not applicable