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 completedNCT01626092What this trial is testingReduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal DisordersWho this might be right forLysosomal Storage DiseasePeroxisomal Disorder Masonic Cancer Center, University of Minnesota 3
Not applicableStudy completedNCT02699190What this trial is testingLeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for LeukodystrophiesWho this might be right forLeukodystrophyWhite Matter Disease4H Syndrome+61 more Children's Hospital of Philadelphia 236
Not applicableStudy completedNCT00006057What this trial is testingDiagnostic and Screening Study of Genetic DisordersWho this might be right forTay-Sachs DiseasePorphyria, ErythropoieticLeukodystrophy, Globoid Cell+1 more National Center for Research Resources (NCRR) 50
Early research (Phase 1)Ended earlyNCT04669535What this trial is testingA Dose-escalation and Safety & Efficacy Study of AXO-AAV-GM2 in Tay-Sachs or Sandhoff DiseaseWho this might be right forTay-Sachs DiseaseSandhoff Disease Terence Flotte 9
Early research (Phase 1)WithdrawnNCT00679744What this trial is testingA Phase I Study of Pyrimethamine in Patients With GM2 GangliosidosisWho this might be right forG(M2) GangliosideTay-Sachs Disease GangliosideSandhoff Disease Ganglioside Exsar Corporation
Not applicableStudy completedNCT01869270What this trial is testingGene Therapy for Tay-Sachs DiseaseWho this might be right forTay Sachs DiseaseSandhoff DiseaseLate Onset Tay Sachs Disease University of Minnesota 4
Large-scale testing (Phase 3)Ended earlyNCT04221451What this trial is testingA Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, and Safety of Venglustat in Late-onset GM2Who this might be right forTay-Sachs DiseaseSandhoff Disease Genzyme, a Sanofi Company 75
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
Not applicableLooking for participantsNCT00668187What this trial is testingA Natural History Study of the GangliosidosesWho this might be right forTay-Sachs DiseaseSandhoff DiseaseLate Onset Tay-Sachs Disease+2 more University of Minnesota 52
Not applicableActive Not RecruitingNCT02851862What this trial is testingA Natural History of Late Onset Tay-Sachs DiseaseWho this might be right forGM2 Gangliosidosis Massachusetts General Hospital 10
Not applicableStudy completedNCT04084301What this trial is testingImpact of Cardiopulmonary Bypass Flow on Renal Oxygenation, Blood Flow and Tubular InjuryWho this might be right forExtracorporeal Circulation; ComplicationsRenal FailureCirculation Disorder+4 more Sahlgrenska University Hospital 100
Not applicableStudy completedNCT01999257What this trial is testingEfficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent.Who this might be right forTay Sachs DiseaseCanavan DiseaseFamilial Dysautonomia McGill University Health Centre/Research Institute of the McGill University Health Centre 60
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
Large-scale testing (Phase 3)Looking for participantsNCT07082725What 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 (NPC)Who this might be right forNiemann-Pick Type C Disease Azafaros A.G. 72
Post-approval studies (Phase 4)Ended earlyNCT02030015What this trial is testingSynergistic Enteral Regimen for Treatment of the GangliosidosesWho this might be right forGM1 GangliosidosesGM2 GangliosidosesTay-Sachs Disease+1 more University of Minnesota 16
Testing effectiveness (Phase 2)Ended earlyNCT01372228What this trial is testingPhase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic DisordersWho this might be right forHurler Syndrome (MPS I)Hurler-Scheie SyndromeHunter Syndrome (MPS II)+9 more Talaris Therapeutics Inc. 3
Testing effectiveness (Phase 2)Study completedNCT01102686What this trial is testingPyrimethamine as a Treatment for Late-Onset GM2-gangliosidosis (Tay-Sachs and Sandhoff Disease)Who this might be right forGangliosidoses, GM2Sandhoff DiseaseTay-Sachs Disease The Hospital for Sick Children 20
Large-scale testing (Phase 3)Study completedNCT00176904What this trial is testingStem Cell Transplant for Inborn Errors of MetabolismWho this might be right forAdrenoleukodystrophyMetachromatic LeukodystrophyGloboid Cell Leukodystrophy+8 more Masonic Cancer Center, University of Minnesota 135
Testing effectiveness (Phase 2)Not Yet RecruitingNCT07399704What 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