Not applicableStudy completedNCT01632111What this trial is testingPulmonary Involvement in Patients With Fabry DiseaseWho this might be right forFabry Disease University of Zurich 110
Post-approval studies (Phase 4)Study completedNCT05134571What this trial is testingChina Post-marketing Surveillance (PMS) Study of Aldurazyme®Who this might be right forMucopolysaccharidosis I Genzyme, a Sanofi Company 12
Not applicableStudy completedNCT01416467What this trial is testingCharacterization of the Patient Population With GalactosialidosisWho this might be right forGalactosialidosis St. Jude Children's Research Hospital 3
Large-scale testing (Phase 3)Active Not RecruitingNCT04910776What this trial is testingClinical Study for Treatment-naïve IOPD Babies to Evaluate Efficacy and Safety of ERT With Avalglucosidase AlfaWho this might be right forGlycogen Storage Disease Type II Sanofi 17
Post-approval studies (Phase 4)Study completedNCT00097890What this trial is testingReplagal Enzyme Replacement Therapy for Adults With Fabry DiseaseWho this might be right forFabry Disease National Institute of Neurological Disorders and Stroke (NINDS) 25
Not applicableStudy completedNCT01961518What this trial is testingScreening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome A and Maroteaux-Lamy SyndromeWho this might be right forMorquio Syndrome AMaroteaux Lamy SyndromeMPS IVA+1 more Greenwood Genetic Center 17
Large-scale testing (Phase 3)Not Yet RecruitingNCT07579910What this trial is testingIntracerebroventricular Tralesinidase Alfa in Participants With MPS IIIB (Sanfilippo Syndrome Type B)Who this might be right forMPS IIIB Spruce Biosciences 14
Post-approval studies (Phase 4)Study completedNCT00365131What this trial is testingStudy of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease.Who this might be right forGaucher Disease Type ICerebroside Lipidosis SyndromeClucocerebrosidase Deficiency Disease+2 more Genzyme, a Sanofi Company 40
Not applicableEnded earlyNCT02345421What this trial is testingIdentify and Characterize LAL-D Patients in High-risk PopulationsWho this might be right forLysosomal Acid Lipase Deficiency Alexion Pharmaceuticals, Inc. 640
Not applicableWithdrawnNCT02778295What this trial is testingBiomarker for Patients With Fabry Disease (BioFabry)Who this might be right forAngiokeratomasChronic Kidney DiseaseOcular Abnormalities+1 more CENTOGENE GmbH Rostock
Large-scale testing (Phase 3)Ended earlyNCT04395339What this trial is testingGM1 Prophylaxis for WBRT Related Cognitive DysfunctionWho this might be right forBrain MetastasesRadiotherapy Side EffectCognitive Impairment+2 more Sun Yat-sen University 51
Testing effectiveness (Phase 2)Active Not RecruitingNCT04201405What this trial is testingGene Therapy with Modified Autologous Hematopoietic Stem Cells for Patients with Mucopolysaccharidosis Type IIIAWho this might be right forMucopolysaccharidosis Type IIIA University of Manchester 5
Testing effectiveness (Phase 2)Ended earlyNCT03746587What this trial is testingStudy of Arimoclomol in Patients Diagnosed With Gaucher Disease Type 1 or 3Who this might be right forGaucher Disease, Type 1Gaucher Disease, Type 3 ZevraDenmark 39
Testing effectiveness (Phase 2)UnknownNCT00004293What this trial is testingPhase II Study of Glucocerebrosidase in Patients With Gaucher DiseaseWho this might be right forGaucher's Disease National Center for Research Resources (NCRR) 24
Testing effectiveness (Phase 2)Study completedNCT02489344What this trial is testingEvaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients With Fabry DiseaseWho this might be right forFabry Disease Genzyme, a Sanofi Company 8
Not applicableStudy completedNCT04281537What this trial is testingDescribe the Experience of Both Patients and Their Clinicians in the Treatment of Fabry Disease With Enzyme Replacement Therapy.Who this might be right forFabry Disease Amicus Therapeutics 82
Post-approval studies (Phase 4)UnknownNCT02525172What this trial is testingImmune Modulation Therapy for Pompe DiseaseWho this might be right forPompe Disease National Taiwan University Hospital 8
Not applicableStudy completedNCT04708301What this trial is testingCharacterisation of Heart Involvement in Fabry Disease With T1 MappingWho this might be right forFabry Disease Manchester University NHS Foundation Trust 200
Early research (Phase 1)Looking for participantsNCT05682144What this trial is testingISP-001: Sleeping Beauty Transposon-Engineered B Cells for MPS IWho this might be right forMucopolysaccharidosis IH/SMucopolysaccharidosis IS Immusoft of CA, Inc. 11
Not applicableStudy completedNCT00414583What this trial is testingStroke in Young Fabry Patients (sifap1): Frequency of Fabry Disease in Young Stroke PatientsWho this might be right forCerebrovascular Accident CENTOGENE GmbH Rostock 5,000