Not applicableStudy completedNCT02851862What this trial is testingA Natural History of Late Onset Tay-Sachs DiseaseWho this might be right forGM2 Gangliosidosis Massachusetts General Hospital 10
Testing effectiveness (Phase 2)Study completedNCT00283959What this trial is testingA 12-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry DiseaseWho this might be right forFabry Disease Amicus Therapeutics 4
Not applicableUnknownNCT04388969What this trial is testingWorld Data on Ambroxol for Patients With GD and GBA Related PDWho this might be right forGaucher DiseaseParkinson DiseaseGBA Gene Mutation Shaare Zedek Medical Center 300
Not applicableStudy completedNCT04353466What this trial is testingAssessing the Impact of Elelyso on Bone Involvement Currently Treated With Other ERTsWho this might be right forGaucher Disease, Type 1 Shaare Zedek Medical Center 30
Not applicableUnknownNCT03875105What this trial is testingDaily Living Activities and Exercise Capacity in Lipid Storage DiseasesWho this might be right forLipid Storage Disease Istanbul University 25
Large-scale testing (Phase 3)Study completedNCT01422187What this trial is testingExtension Study of Taliglucerase Alfa in Adult Subjects With Gaucher DiseaseWho this might be right forGaucher Disease Pfizer 19
Not applicableNo Longer AvailableNCT02084121What this trial is testingAllogeneic Stem Cell Transplantation for the Treatment of Multiple Sclerosis (Compassionate Use)Who this might be right forMetachromatic Leukodystrophy Talaris Therapeutics Inc.
Not applicableStudy completedNCT02719249What this trial is testingFabry Disease Screening in ESRD Patients in West of FranceWho this might be right forESRD Rennes University Hospital 500
Testing effectiveness (Phase 2)Study completedNCT00975689What this trial is testingBiomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl CysteineWho this might be right forNiemann-Pick Disease, Type C Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 35
Not applicableUnknownNCT04792671What this trial is testingPrevalence and Risk Factors of Women Mental Health DisordersWho this might be right forPsychiatric ProblemWolman Disease Assiut University 200
Not applicableStudy completedNCT04602364What this trial is testingFrench Prospective, Observational Cohort Study of Patients With Fabry Disease Treated With MigalastatWho this might be right forFabry Disease Amicus Therapeutics France SAS 48
Not applicableLooking for participantsNCT07455864What this trial is testingLysosomal Acid Lipase Deficiency in Risk GroupsWho this might be right forLysosomal Acid Lipase Deficiency AstraZeneca 1,200
Testing effectiveness (Phase 2)Active Not RecruitingNCT04519749What this trial is testingAn Open-label, Phase 1/2 Trial of Gene Therapy 4D-310 in Adults With Fabry DiseaseWho this might be right forFabry Disease 4D Molecular Therapeutics 18
Testing effectiveness (Phase 2)Active Not RecruitingNCT05739643What this trial is testingGene Transfer Clinical Trial for Infantile and Late Infantile Krabbe Disease Treated Previously With HSCTWho this might be right forKrabbe Disease Forge Biologics, Inc 9
Testing effectiveness (Phase 2)Study completedNCT01307098What this trial is testingSafety, Tolerability and Pharmacokinetics of SBC-102 (Sebelipase Alfa) in Adult Participants With Lysosomal Acid Lipase DeficiencyWho this might be right forCholesterol Ester Storage Disease(CESD)Lysosomal Acid Lipase DeficiencyLAL-Deficiency Alexion Pharmaceuticals, Inc. 9
Very early researchLooking for participantsNCT06207552What this trial is testingEvaluation of the Safety, Tolerability and Efficacy of a Gene Therapy Drug for the Treatment of Pediatric Fabry DiseaseWho this might be right forFabry Disease Children's Hospital of Fudan University 6
Not applicableStudy completedNCT02798458What this trial is testingEvaluation of the Gastrointestinal Manifestation of Fabry's DiseaseWho this might be right forFabry's Disease Massachusetts General Hospital 48
Not applicableLooking for participantsNCT01793168What this trial is testingRare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordWho this might be right forRare DisordersUndiagnosed DisordersDisorders of Unknown Prevalence+340 more Sanford Health 20,000
Not applicableStudy completedNCT01271699What this trial is testingPrevalence of Fabry Disease in a Defined Population at Risk - Patients Formerly Diagnosed With Multiple SclerosisWho this might be right forMultiple Sclerosis CENTOGENE GmbH Rostock 250
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