Not applicableLooking for participantsNCT07187440What this trial is testingAgalsidase Alfa Enyzme Replacement Therapy in Chinese Children and Adults With Fabry DiseaseWho this might be right forFabry Disease Takeda 200
Not applicableStudy completedNCT03464240What this trial is testingGlucose-stimulated Gut Lipid ReleaseWho this might be right forHyperlipidemias University Health Network, Toronto 46
Early research (Phase 1)Study completedNCT01881633What this trial is testingThe Tolerability, Safety, and Pharmacokinetics of ISU302 in Healthy VolunteersWho this might be right forGaucher Disease ISU Abxis Co., Ltd. 24
Not applicableActive Not RecruitingNCT07274826What this trial is testingDiagnostic Creteria of Acid Sphingomyelinase Deficiency (ASMD)Who this might be right forAcid Sphingomyelinase Deficiency (ASMD) Sohag University 7
Early research (Phase 1)Study completedNCT06193304What this trial is testingEvaluate Pharmacokinetic Parameters and Safety of Eliglustat Absorption Through the MouthWho this might be right forGaucher's Disease Sanofi 6
Not applicableWithdrawnNCT05755568What this trial is testingLearn About Metachromatic Leukodystrophy (MLD) in Children in SpainWho this might be right forMetachromatic Leukodystrophy (MLD) Takeda
Not applicableWithdrawnNCT01425489What this trial is testingBiomarker for Krabbe Disease (BioKrabbe)Who this might be right forKrabbe Disease CENTOGENE GmbH Rostock
Not applicableEnrolling By InvitationNCT05368038What this trial is testingScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening ProgramWho this might be right forAcid Sphingomyelinase DeficiencyCeroid Lipofuscinosis, Neuronal, 2Cerebrotendinous Xanthomatosis+11 more Albert Einstein College of Medicine 100,000
Testing effectiveness (Phase 2)Not Yet RecruitingNCT07715084What this trial is testingStudy to Evaluate the Efficacy and Safety of Nizubaglustat (AZ-3102) in Patients With Gaucher Disease Type 3 (GD3)Who this might be right forGaucher Disease Type 3 Azafaros B.V. 20
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)WithdrawnNCT03687476What this trial is testingSafety and Tolerability Study of VTS-270 in Pediatric Participants With Niemann-Pick Type C (NPC) DiseaseWho this might be right forNiemann-Pick Disease, Type C Vtesse, LLC, a Mallinckrodt Pharmaceuticals Company
Not applicableStudy completedNCT00004378What this trial is testingStem Cell Transplantation (SCT) for Genetic DiseasesWho this might be right forThrombocytopeniaMetachromatic LeukodystrophyFanconi's Anemia+3 more National Center for Research Resources (NCRR)
Post-approval studies (Phase 4)Study completedNCT02574286What this trial is testingStudy of the Effect of Velaglucerase Alfa (VPRIV®) on Bone-related Pathology in Treatment-naïve Participants With Type 1 Gaucher DiseaseWho this might be right forGaucher Disease Shire 21
Not applicableLooking for participantsNCT07336394What this trial is testingPrecision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance TechniquesWho this might be right forDanon DiseaseFabry DiseaseCardiac Amyloidosis+4 more Chinese Academy of Medical Sciences, Fuwai Hospital 1,000
Not applicableUnknownNCT03812042What this trial is testingScreening of Lysosomal Storage Disorders Diseases in Minority GroupsWho this might be right forLysosomal Storage Diseases Lysosomal and Rare Disorders Research and Treatment Center, Inc. 100,000
Not applicableLooking for participantsNCT04880356What this trial is testingLongitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.Who this might be right forInherited DiseaseRare DiseasesMetabolic Disease+3 more Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta 100
Not applicableStudy completedNCT03435432What this trial is testingPlasma Lipid Response to Glucose DrinkWho this might be right forHyperlipidemias University Health Network, Toronto 6
Not applicableStudy completedNCT04373863What this trial is testingAssessment of Lifestyle, Blood Pressure, Cholesterol and Glycated Hemoglobin in a Specific PopulationWho this might be right forCholesterol; LipidosisArterial HypertensionBlood Glucose, High Libbs Farmacêutica LTDA 2,472
Not applicableNot Yet RecruitingNCT06956573What this trial is testingAortic Dimensions in Patients With Fabry DiseaseWho this might be right forFabry Disease University Hospital, Caen 200
Post-approval studies (Phase 4)UnknownNCT00487630What this trial is testingEvaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry DiseaseWho this might be right forFabry Disease Assistance Publique - Hôpitaux de Paris 34