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 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
Not applicableNot Yet RecruitingNCT06985212What this trial is testingNational Multicentre Study of the Natural History of Acid Sphingo-myelinase Deficiency in Adults and ChildrenWho this might be right forAcid Sphingomyelinase Deficiency (ASMD)Niemann Pick Disease Wladimir MAUHIN, Dr 200
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
Large-scale testing (Phase 3)Looking for participantsNCT07054515What this trial is testingEvaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease, GM1 Gangliosidosis or GM2 GangliosidosisWho this might be right forNiemann-Pick Type C DiseaseGM1 GangliosidosisGM2 Gangliosidosis Azafaros A.G. 147
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 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 completedNCT00730314What this trial is testingUnrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood CellsWho this might be right forSickle Cell DiseaseThalassemiaAnemia+9 more Children's Hospital Los Angeles 25
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
Early research (Phase 1)Study completedNCT02939547What this trial is testingStudy of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1)Who this might be right forNiemann-Pick Disease, Type C1 Cyclo Therapeutics, Inc. 13
Large-scale testing (Phase 3)Ended earlyNCT04958642What this trial is testingAdrabetadex to Treat Niemann-Pick Type C1 (NPC1) DiseaseWho this might be right forNiemann-Pick Disease, Type C Mandos LLC 66
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
Large-scale testing (Phase 3)Looking for participantsNCT07082543What this trial is testingEvaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of GM1 Gangliosidosis or GM2 GangliosidosisWho this might be right forGangliosidoses, GM2Gangliosidosis, GM1 Azafaros A.G. 75
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
Early research (Phase 1)Ended earlyNCT00410566What this trial is testingSafety Study of rhASM Enzyme Replacement Therapy in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease)Who this might be right forAcid Sphingomyelinase DeficiencyNiemann-Pick Disease Genzyme, a Sanofi Company 11
Not applicableEnrolling By InvitationNCT03655223What this trial is testingEarly Check: Expanded Screening in NewbornsWho this might be right forSpinal Muscular AtrophyFragile X SyndromeFragile X - Premutation+182 more RTI International 30,000
Large-scale testing (Phase 3)Ended earlyNCT00654433What this trial is testingALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic DiseasesWho this might be right forInherited Metabolic DiseasesLysosomal Storage DisordersPeroxisomal Storage Diseases+2 more Aldagen 40
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
Not applicableNot Yet RecruitingNCT06869499What this trial is testingStudy of the Prevalence of Acid Sphingomyelinase Deficiency/Niemann Pick AB and B Disease in Patients With Diffuse Interstitial Lung DiseaseWho this might be right forSplenomegalySplenectomyThrombopenia+2 more Wladimir MAUHIN, Dr 200
Large-scale testing (Phase 3)Study completedNCT02004691What this trial is testingEfficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase DeficiencyWho this might be right forSphingomyelin Lipidosis Genzyme, a Sanofi Company 36