Not applicableUnknownNCT01716741What this trial is testingIdentification of Undiagnosed Gaucher DiseaseWho this might be right forGaucher Disease Brigham and Women's Hospital 100
Not applicableStudy completedNCT01632111What this trial is testingPulmonary Involvement in Patients With Fabry DiseaseWho this might be right forFabry Disease University of Zurich 110
Not applicableUnknownNCT06116071What this trial is testingBiomarkers Related to Bone in Pediatric Gaucher DiseaseWho this might be right forGaucher DiseaseBone Diseases Lysosomal and Rare Disorders Research and Treatment Center, Inc. 20
Not applicableUnknownNCT03949920What this trial is testingMigalastat in Fabry DiseaseWho this might be right forFabry Disease Manchester University NHS Foundation Trust 21
Post-approval studies (Phase 4)Study completedNCT01527318What this trial is testingThe Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM)Who this might be right forNeutral Lipid Storage Disease Maastricht University Medical Center 6
Large-scale testing (Phase 3)UnknownNCT04860960What this trial is testingPhase 3 Study to Evaluate Intravenous Trappsol(R) Cyclo(TM) in Pediatric and Adult Patients With Niemann-Pick Disease Type C1Who this might be right forNiemann-Pick Disease, Type C1 Cyclo Therapeutics, Inc. 94
Not applicableLooking for participantsNCT03291223What this trial is testingGaucher Disease Outcome Survey (GOS)Who this might be right forGaucher Disease Shire 1,257
Not applicableActive Not RecruitingNCT06614569What this trial is testingLong-Term Follow-Up of Subjects Treated With AXO-AAV-GM2 for Tay-Sachs or Sandhoff DiseaseWho this might be right forGM2 GangliosidosisTay Sachs DiseaseSandhoff Disease Terence Flotte 7
Early research (Phase 1)WithdrawnNCT01003912What this trial is testingFetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage DiseasesWho this might be right forLysosomal Storage DiseasesInborn Errors of Metabolism Joanne Kurtzberg, MD
Not applicableEnded earlyNCT04094181What this trial is testingVPRIV in Participants With Gaucher Disease Previously Treated With Other Enzyme Replacement Therapies or Substrate Reduction TherapiesWho this might be right forGaucher Disease Shire 2
Early research (Phase 1)Looking for participantsNCT04532047What this trial is testingPEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)Who this might be right forMPS IMPS IIMPS IVA+6 more University of California, San Francisco 10
Not applicableStudy completedNCT01358370What this trial is testingA Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman PhenotypeWho this might be right forLysosomal Acid Lipase DeficiencyWolman Disease Alexion Pharmaceuticals, Inc. 40
Not applicableEnded earlyNCT04836377What this trial is testingA Long-Term Follow-up Study of Subjects With Gaucher Disease Who Previously Received AVR-RD-02Who this might be right forType 1 Gaucher Disease AVROBIO 4
Not applicableLooking for participantsNCT02918032What this trial is testingInternational Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related DiseasesWho this might be right forNeutral Lipid Storage Disease Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan 120
Not applicableStudy completedNCT02969200What this trial is testingFabry: Renal Function During Long-term ERT by 51Cr-EDTA ClearanceWho this might be right forFabry Disease Ulla Feldt-Rasmussen 52
Testing effectiveness (Phase 2)Study completedNCT01363492What this trial is testingSafety Study of Replagal® Therapy in Children With Fabry DiseaseWho this might be right forFabry Disease Shire 15
Not applicableStudy completedNCT00106912What this trial is testingStudy to Collect Data on Fabry Disease Patients With Enhanceable Alpha-Galactosidase A ActivityWho this might be right forFabry Disease National Institute of Neurological Disorders and Stroke (NINDS) 35
Large-scale testing (Phase 3)Study completedNCT00672022What this trial is testingPharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral DosesWho this might be right forGM2 GangliosidosesTay-SachsSandhoff Disease Children's National Research Institute 10
Not applicableStudy completedNCT05702814What this trial is testingA Study Measuring Substances Potentially Indicating Bone Problems in Adults With Type 1 Gaucher ConditionWho this might be right forGaucher Disease Takeda 125
Testing effectiveness (Phase 2)Not Yet RecruitingNCT07582484What this trial is testingGene Therapy Trial for CLN6 Batten DiseaseWho this might be right forCLN6Batten DiseaseBatten's Disease+2 more The Charlotte and Gwenyth Gray Foundation 12