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 applicableUnknownNCT04624789What this trial is testingRegistry GangliosidosesWho this might be right forGangliosidosesGM1 GangliosidosisMorquio B Disease+6 more SphinCS Lyso Gemeinnutzige UG (Haftungsbeschrankt) 40
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
Testing effectiveness (Phase 2)Study completedNCT00418847What this trial is testingPharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 GangliosidosisWho this might be right forGangliosidoses GM2 The Hospital for Sick Children 5
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
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
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
Large-scale testing (Phase 3)Study completedNCT00672022What this trial is testingPharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral DosesWho this might be right forGM2 GangliosidosesTay-SachsSandhoff Disease Children's National Research Institute 10
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
Large-scale testing (Phase 3)Ended earlyNCT03822013What this trial is testingEffects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD)Who this might be right forGM2 GangliosidosisSupportive Care Tehran University of Medical Sciences 30
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
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 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
Not applicableStudy completedNCT04470713What this trial is testingNatural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2Who this might be right forGM1 GangliosidosisGM2 GangliosidosisGaucher Disease, Type 2+3 more Idorsia Pharmaceuticals Ltd. 226
Testing effectiveness (Phase 2)Study completedNCT03759665What this trial is testingN-Acetyl-L-Leucine for GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease)Who this might be right forGM2 GangliosidosisTay-Sachs DiseaseSandhoff Disease IntraBio Inc 30
Testing effectiveness (Phase 2)Active Not RecruitingNCT04798235What this trial is testingFirst-in-Human Study of TSHA-101 Gene Therapy for Treatment of Infantile Onset GM2 GangliosidosisWho this might be right forInfantile GM2 Gangliosidosis (Disorder) Dr. Anupam Sehgal 3
Not applicableWithdrawnNCT02298647What this trial is testingBiomarker for Gangliosidosis: BioGM1/BioGM2 (BioGM1/GM2)Who this might be right forHepato-splenomegalyDysostosis MultiplexSeizures+1 more CENTOGENE GmbH Rostock
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
Early research (Phase 1)Looking for participantsNCT02254863What this trial is testingUCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like CellsWho this might be right forAdrenoleukodystrophyBatten DiseaseMucopolysaccharidosis II+9 more Joanne Kurtzberg, MD 40