Not applicableStudy completedNCT03519646What this trial is testingEliglustat on Gaucher Disease Type IIIBWho this might be right forGaucher Disease, Type III National Taiwan University Hospital 4
Testing effectiveness (Phase 2)Study completedNCT01685216What this trial is testingEfficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher DiseaseWho this might be right forGaucher Disease, Type 3 Shire 7
Testing effectiveness (Phase 2)Study completedNCT00433147What this trial is testingAT2101 (Afegostat Tartrate) in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement TherapyWho this might be right forGaucher Disease, Type 1Type 1 Gaucher DiseaseGaucher Disease Amicus Therapeutics 30
Not applicableStudy completedNCT01325025What this trial is testingImaging Study of the White Matter Lesions in Children With Metachromatic LeucodystrophyWho this might be right forLate Infantile Metachromatic Leukodystrophy Assistance Publique - Hôpitaux de Paris 29
Testing effectiveness (Phase 2)Active Not RecruitingNCT02843035What this trial is testingVenglustat in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 With Venglustat Monotherapy ExtensionWho this might be right forGaucher Disease Type 1Gaucher Disease Type 3 Genzyme, a Sanofi Company 12
Large-scale testing (Phase 3)Study completedNCT02770625What this trial is testingPhase III Study of ISU302 in Patients With Type 1 Gaucher DiseaseWho this might be right forGaucher Disease, Type 1 ISU Abxis Co., Ltd. 8
Large-scale testing (Phase 3)Study completedNCT00176904What this trial is testingStem Cell Transplant for Inborn Errors of MetabolismWho this might be right forAdrenoleukodystrophyMetachromatic LeukodystrophyGloboid Cell Leukodystrophy+8 more Masonic Cancer Center, University of Minnesota 135
Not applicableStudy completedNCT00728364What this trial is testingAnderson-Fabry Disease in Chronic Kidney Disease Patients Not on Renal Replacement TherapyWho this might be right forFocus of Study: Prevalence of Fabry Disease in CKD Population Klinikum Wels-Grieskirchen 4,353
Post-approval studies (Phase 4)Study completedNCT03910621What this trial is testingSafety and Efficacy of Miglustat in Chinese NPC PatientsWho this might be right forNiemann-Pick Disease, Type C Actelion 17
Large-scale testing (Phase 3)Ended earlyNCT04840667What this trial is testingReplagal in Treatment-naïve Adults With Fabry DiseaseWho this might be right forFabry Disease Shire 17
Not applicableStudy completedNCT02985710What this trial is testingAssessment of Small Fiber Neuropathy in Rare Diseases Using SudoscanWho this might be right forSmall Fiber NeuropathyFabry DiseaseEhlers Danlos Syndrome+1 more Massachusetts General Hospital 102
Post-approval studies (Phase 4)UnknownNCT03721627What this trial is testingChronic Hepatitis C Treatment in Egyptian Children With Gaucher Disease.Who this might be right forGaucher DiseaseHCV Mansoura University Children Hospital 10
Not applicableUnknownNCT06539169What this trial is testingFLOWER: Following Longitudinal Outcomes With Epidemiology for Rare DiseasesWho this might be right forAlpha-ThalassemiaBeta-ThalassemiaAmyloidosis+14 more xCures 1,000
Large-scale testing (Phase 3)Study completedNCT00553631What this trial is testingStudy of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher DiseaseWho this might be right forGaucher Disease, Type 1 Shire 34
Not applicableStudy completedNCT00302146What this trial is testingPositron Emission Tomography (PET) Imaging in People With Gaucher MutationsWho this might be right forParkinson DiseaseGaucher Disease National Human Genome Research Institute (NHGRI) 64
Post-approval studies (Phase 4)Study completedNCT01650779What this trial is testingA Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase BetaWho this might be right forFabry Disease Genzyme, a Sanofi Company 15
Not applicableUnknownNCT01590095What this trial is testingWASH Benefits BangladeshWho this might be right forMalnutritionDiarrheaChild Development International Centre for Diarrhoeal Disease Research, Bangladesh 5,040
Not applicableStudy completedNCT03289065What this trial is testingFabry Outcome Survey (FOS)Who this might be right forFabry Disease Shire 4,000
Not applicableLooking for participantsNCT00029965What this trial is testingNatural History of Glycosphingolipid Storage Disorders and Glycoprotein DisordersWho this might be right forNeurological RegressionMyoclonusCherry Red Spot+1 more National Human Genome Research Institute (NHGRI) 200
Large-scale testing (Phase 3)Ended earlyNCT04221451What this trial is testingA Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, and Safety of Venglustat in Late-onset GM2Who this might be right forTay-Sachs DiseaseSandhoff Disease Genzyme, a Sanofi Company 75