Not applicableNot Yet RecruitingNCT06258577What this trial is testingScreening for Gaucher Disease and Acid Sphingomyelinase DeficiencyWho this might be right forGaucher Disease Chung-Hsing Wang 50
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
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 applicableEnded earlyNCT02841358What this trial is testingScreening of Niemann-Pick Disease, Type C in a Psychiatric PopulationWho this might be right forPsychiatric Adults Patients University Hospital, Grenoble 22
Not applicableStudy completedNCT05642221What this trial is testingFunctional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical ControlsWho this might be right forJuvenile Neuronal Ceroid LipofuscinosisSmith-Lemli-Opitz SyndromeCreatine Transporter Deficiency+1 more Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 73
Testing effectiveness (Phase 2)Study completedNCT02004704What this trial is testingA Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase DeficiencyWho this might be right forSphingomyelin Lipidosis Genzyme, a Sanofi Company 25
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
Testing effectiveness (Phase 2)Looking for participantsNCT07399704What this trial is testingEvaluate the Safety and Efficacy of Nizubaglustat (AZ-3102) in Patients With GM2 Gangliosidosis or Niemann-Pick Type C DiseaseWho this might be right forGM2 GangliosidosisNiemann-Pick Type C Disease Azafaros A.G. 21
Testing effectiveness (Phase 2)Ended earlyNCT02193867What this trial is testingClinical Study In Infants With Rapidly Progressive Lysosomal Acid Lipase DeficiencyWho this might be right forLysosomal Acid Lipase Deficiency Alexion Pharmaceuticals, Inc. 10
Testing effectiveness (Phase 2)Study completedNCT02912793What this trial is testingSafety and Efficacy of Intravenous Trappsol Cyclo (HPBCD) in Niemann-Pick Type C PatientsWho this might be right forNiemann-Pick Disease, Type C1 Cyclo Therapeutics, Inc. 12
Large-scale testing (Phase 3)Study completedNCT02612129What this trial is testingArimoclomol Prospective Study in Participants Diagnosed With Niemann-Pick Disease Type CWho this might be right forNiemann-Pick Disease, Type C ZevraDenmark 50
Not applicableWithdrawnNCT04189601What this trial is testingComplement Activation in the Lysosomal Storage DisordersWho this might be right forFabry DiseaseGaucher DiseaseNiemann-Pick Disease, Type C+1 more Melbourne Health
Testing effectiveness (Phase 2)Study completedNCT00517153What this trial is testingMiglustat in Niemann-Pick Type C DiseaseWho this might be right forNiemann-Pick Type C Disease Actelion 29
Testing effectiveness (Phase 2)Study completedNCT02292654What this trial is testingSafety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase DeficiencyWho this might be right forSphingomyelin Lipidosis Genzyme, a Sanofi Company 20
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
Large-scale testing (Phase 3)Ended earlyNCT03879655What this trial is testingOpen-label Study of VTS-270 in Participants With Neurologic Manifestations of Niemann-Pick Type C1Who this might be right forNiemann-Pick Disease, Type C Mandos LLC 2
Not applicableApproved For MarketingNCT04877132What this trial is testingCompassionate Use Program for Olipudase Alfa Enzyme Replacement Therapy for Patients With Chronic Acid Sphingomyelinase Deficiency (ASMD)Who this might be right forSphingomyelin Lipidosis Sanofi
Testing effectiveness (Phase 2)Active Not RecruitingNCT02171104What this trial is testingMT2013-31: Allo HCT for Metabolic Disorders and Severe OsteopetrosisWho this might be right forMucopolysaccharidosis DisordersHurler SyndromeHunter Syndrome+26 more Masonic Cancer Center, University of Minnesota 149
Testing effectiveness (Phase 2)Study completedNCT02124083What this trial is testingPhase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1Who this might be right forNeimann-Pick Disease Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 12
Not applicableStudy completedNCT05641103What this trial is testingPREDIGA 2: Spanish Acronym of "Educational and Diagnostic Project for Gaucher and ASMD"Who this might be right forGaucher DiseaseAcid SphingoMyelinase DeficiencyASMD+2 more Fundación Española de Hematología y Hemoterapía 122