Not applicableUnknownNCT02000310What this trial is testingMolecular and Cellular Mechanisms of Lysosomal Storage DiseasesWho this might be right forLysosomal Storage Disorders O & O Alpan LLC 80
Not applicableUnknownNCT05914727What this trial is testingBiomarkers Of Lung InVolvement In ASMDWho this might be right forAsmd, Visceral Type Eline C. B. Eskes 68
Not applicableLooking for participantsNCT03333200What this trial is testingLongitudinal Study of Neurodegenerative DisordersWho this might be right forMLDKrabbe DiseaseALD+24 more University of Pittsburgh 1,500
Not applicableStudy completedNCT04845958What this trial is testingA Non-Interventional National Study in Pediatric Patients With Unexplained Enlarged SpleenWho this might be right forGaucher Disease, SplenomegalyAcid SphingoMyelinase Deficiency Sanofi 60
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 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
Not applicableStudy completedNCT02435030What this trial is testingA Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type CWho this might be right forNiemann-Pick Disease, Type C ZevraDenmark 35
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
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
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 B.V. 21
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
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
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
Early research (Phase 1)Study completedNCT01722526What this trial is testingTolerability and Safety Study of Recombinant Human Acid Sphingomyelinase in Acid Sphingomyelinase Deficiency PatientsWho this might be right forHuman Acid Sphingomyelinase Deficiency Genzyme, a Sanofi Company 5
Testing effectiveness (Phase 2)Study completedNCT06949358What this trial is testingEvaluate Safety and Tolerability of Olipudase Alfa in Pediatric and Adult Participants With Acid Sphingomyelinase Deficiency (ASMD) Who Completed the DFI12712 or the LTS13632 Study in FranceWho this might be right forAcid Sphingomyelinase Deficiency Sanofi 3
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
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 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 applicableStudy completedNCT04106544What this trial is testingA Prospective and Retrospective Cohort Study in Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD)Who this might be right forSphingomyelin Lipidosis Sanofi 84
Very early researchUnknownNCT03201627What this trial is testingStudy of Lithium Carbonate to Treat Niemann-Pick Type C1 DiseaseWho this might be right forNiemann-Pick Disease, Type C1 Xinhua Hospital, Shanghai Jiao Tong University School of Medicine 18