Testing effectiveness (Phase 2)Study completedNCT03759639What this trial is testingN-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC)Who this might be right forNiemann-Pick Disease, Type C IntraBio Inc 33
Not applicableUnknownNCT04639999What this trial is testingImpact of MIgalastat TheRApy on CaRdiac Function in patiEnts With Fabry's Cardiomyopathy (MIRACRE-Fabry Trial)Who this might be right forFabry Disease Yonsei University 20
Not applicableStudy completedNCT00006057What this trial is testingDiagnostic and Screening Study of Genetic DisordersWho this might be right forTay-Sachs DiseasePorphyria, ErythropoieticLeukodystrophy, Globoid Cell+1 more National Center for Research Resources (NCRR) 50
Testing effectiveness (Phase 2)Study completedNCT00048906What this trial is testingAlpha-Galactosidase A Replacement Therapy for Fabry DiseaseWho this might be right forFabry Disease National Institute of Neurological Disorders and Stroke (NINDS) 3
Testing effectiveness (Phase 2)UnknownNCT05710367What this trial is testingEffects Of Sodium Glucose Cotranspoter 2 Inhibitors On Heart And Kidneys In Fabry Disease PatientsWho this might be right forFabry Disease Albina Nowak, MD 46
Large-scale testing (Phase 3)Study completedNCT03614234What this trial is testingOpen Label Extension of 2 mg/kg Pegunigalsidase Alfa (PRX-102) Every 4 Weeks in Adult Fabry Disease PatientsWho this might be right forFabry Disease Chiesi Farmaceutici S.p.A. 29
Not applicableLooking for participantsNCT07495410What this trial is testingAnderson-Fabry Disease Fitness Improvement TrainingWho this might be right forFabry Disease General University Hospital, Prague 50
Not applicableUnknownNCT04893889What this trial is testingSubstudy (NCT04456582): Noninvasive Assessment of Myocardial Stiffness by 2D-SWE Ultrasound Technique (Two-dimensional Shear Wave Elastography) in Patients With Amyloidosis and Fabry Disease.Who this might be right forFabry DiseaseAmyloidosis University of Sao Paulo General Hospital 60
Not applicableStudy completedNCT05106764What this trial is testingEarly Detection of Fabry DiseaseWho this might be right forFabry Disease Takeda 50
Not applicableLooking for participantsNCT06192576What this trial is testingA Real-world Long-term Safety and Immunogenicity Study of Olipudase Alfa Therapy in Pediatric Patients Less Than 2 Years of Age With Acid Sphingomyelinase Deficiency (ASMD)Who this might be right forNiemann-Pick DiseasesAcid Sphingomyelinase Deficiency Sanofi 10
Not applicableEnded earlyNCT04008849What this trial is testingA Follow-up Study in Patients With Inherited Metabolic Disorders (IMD) Who Underwent Hematopoietic Stem Cell Transplantation (HSCT) With MGTA-456Who this might be right forInherited Metabolic Disorders (IMD) Magenta Therapeutics, Inc. 3
Post-approval studies (Phase 4)Looking for participantsNCT05067868What this trial is testingReplagal in Children and Adults With Fabry Disease in IndiaWho this might be right forFabry Disease Shire 5
Early research (Phase 1)Study completedNCT01747135What this trial is testingHydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 DiseaseWho this might be right forNiemann-Pick Disease, Type C1 Vtesse, LLC, a Mallinckrodt Pharmaceuticals Company 14
Not applicableStudy completedNCT04678713What this trial is testingMaximal Fat Oxidation and Fuel Use During ExerciseWho this might be right forObesity University of Copenhagen 40
Testing effectiveness (Phase 2)Ended earlyNCT00526071What this trial is testingOpen-label Long-term Safety Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease Who Have Completed a Previous AT1001 StudyWho this might be right forFabry Disease Amicus Therapeutics 23
Testing effectiveness (Phase 2)Ended earlyNCT00668564What this trial is testingHematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of MetabolismWho this might be right forHurler's SyndromeMaroteaux-Lamy SyndromeSly Syndrome+8 more Masonic Cancer Center, University of Minnesota 18
Not applicableUnknownNCT05904366What this trial is testingMagnetic Resonance Spectroscopy in Acid Sphingomyelinase DeficiencyWho this might be right forAsmd, Visceral Type Eline C. B. Eskes 34
Not applicableStudy completedNCT05046379What this trial is testingStudying Lipids as Potential Biomarkers in Patients With Fabry DiseaseWho this might be right forFabry Disease Vastra Gotaland Region 108
Not applicableStudy completedNCT00151268What this trial is testingGenotype - Phenotype Correlations of LINCLWho this might be right forBatten DiseaseLate-Infantile Neuronal Ceroid Lipfuscinosis Weill Medical College of Cornell University 18
Not applicableUnknownNCT01898325What this trial is testingAssessment Of Liver and Spleen Fibrosis in Patients With Gaucher Disease Using FibroscanWho this might be right forFibrosis Rambam Health Care Campus 40