Not applicableActive Not RecruitingNCT07506083What this trial is testingNatural History in Fabry Disease With IVS4+919G>A MutationsWho this might be right forFabry Disease Chinese University of Hong Kong 31
Not applicableStudy completedNCT02418546What this trial is testingElectronic-health Application To Measure Outcomes REmotely Clinical TrialWho this might be right forNeurodegenerative DiseaseWeight LossAmyotrophic Lateral Sclerosis+3 more Massachusetts General Hospital 78
Large-scale testing (Phase 3)Looking for participantsNCT05163288What this trial is testingA Pivotal Study of N-Acetyl-L-Leucine on Niemann-Pick Disease Type CWho this might be right forNiemann-Pick Disease, Type C IntraBio Inc 53
Not applicableNo Longer AvailableNCT05317780What this trial is testingCanavan-Single Patient INDWho this might be right forCanavan Disease University of Florida
Not applicableStudy completedNCT01451879What this trial is testingObservational Study for Subjects With Pompe Disease Undergoing Immune Modulation TherapiesWho this might be right forPompe Disease University of Florida 11
Not applicableLooking for participantsNCT04388969What this trial is testingWorld Data on Ambroxol for Patients With GD and GBA Related PDWho this might be right forGaucher DiseaseParkinson DiseaseGBA Gene Mutation Shaare Zedek Medical Center 300
Not applicableStudy completedNCT00077662What this trial is testingA Prospective, Observational Study in Patients With Late-Onset Pompe DiseaseWho this might be right forGlycogen Storage Disease Type II Genzyme, a Sanofi Company 61
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 applicableStudy completedNCT01080859What this trial is testingVessel Wall Response of the Bio-Active-stent and Everolimus-Eluting Stent Assessed By Optical Coherence TomographyWho this might be right forAcute Coronary Syndrome The Hospital District of Satakunta 40
Not applicableEnded earlyNCT00004442What this trial is testingStudy of Bile Acids in Patients With Peroxisomal DisordersWho this might be right forInfantile Refsum's DiseaseZellweger SyndromeBifunctional Enzyme Deficiency+1 more University of Cincinnati 25
Not applicableStudy completedNCT04268147What this trial is testingInstrumented Data Exchange for Ataxia StudyWho this might be right forSpinocerebellar Ataxia Type 1Spinocerebellar Ataxia Type 2Spinocerebellar Ataxia Type 3+2 more University of Chicago 128
Not applicableStudy completedNCT06484478What this trial is testingA Real-world Wearables Study in Fabry Disease.Who this might be right forFabry Disease Royal Free Hospital NHS Foundation Trust 100
Large-scale testing (Phase 3)Study completedNCT00811785What this trial is testingMolecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper DeficiencyWho this might be right forMenkes DiseaseOccipital Horn SyndromeUnexplained Copper Deficiency Cyprium Therapeutics, Inc. 93
Large-scale testing (Phase 3)Study completedNCT00212355What this trial is testingEfficacy and Safety, Long-term Study of Zinc Acetate to Treat Wilson's Disease in Japan.Who this might be right forWilson's Disease Nobelpharma 37
Not applicableActive Not RecruitingNCT05943678What this trial is testingNovel Metabolic Muscular Biomarkers in Pompe Disease - a Non-invasive Magnetic Resonance Exploratory Pilot Study.Who this might be right forPompe DiseaseMcArdle Disease Medical University of Vienna 30
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
Very early researchLooking for participantsNCT06272149What this trial is testingAn Exploratory Clinical Trial of VGN-R08b in Patients With Type II Gaucher DiseaseWho this might be right forType II Gaucher Disease Xinhua Hospital, Shanghai Jiao Tong University School of Medicine 6
Not applicableLooking for participantsNCT07575347What this trial is testingPeriodontal Disease in Rare Renal Disorders (PERIO-RA-RE)Who this might be right forPeriodontal DiseasePeriodontitisCKD+6 more Stefan Lujinschi 100
Early research (Phase 1)Looking for participantsNCT05302271What this trial is testingPhase IA and IB Study of AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich's AtaxiaWho this might be right forFriedreich AtaxiaCardiomyopathiesCardiac Hypertrophy+1 more Weill Medical College of Cornell University 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