Not applicableLooking for participantsNCT03190837What this trial is testingA Long-term Follow-up Study of Gaucher DiseaseWho this might be right forGaucher Disease Duke University 200
Not applicableUnknownNCT06714019What this trial is testingPL_GNT01_ISR_Grant 53234273Who this might be right forTransthyretin Cardiomyopathy (TTR-CM)Transthyretin (TTR) Amyloid CardiomyopathyTransthyretin Amyloidosis National Institute of Cardiology, Warsaw, Poland 100
Not applicableStudy completedNCT00005111What this trial is testingPET Scans in Normal Volunteers and Patients With Fabry DiseaseWho this might be right forFabry DiseaseHealthy National Institute of Neurological Disorders and Stroke (NINDS) 24
Not applicableStudy completedNCT04708301What this trial is testingCharacterisation of Heart Involvement in Fabry Disease With T1 MappingWho this might be right forFabry Disease Manchester University NHS Foundation Trust 200
Not applicableUnknownNCT04476550What this trial is testingClinical Specimen Collection From Pompe Disease PatientsWho this might be right forPompe Disease Serhat Gumrukcu, MD PhD 12
Not applicableUnknownNCT05272969What this trial is testingPompe & Pain - Study to Assess Nociceptive Pain in Adult Patients With Pompe DiseaseWho this might be right forPompe Disease (Late-onset)Inclusion Body MyositisSpinal Muscular Atrophy Type 3+1 more LMU Klinikum 95
Not applicableLooking for participantsNCT04157179What this trial is testingCerebral Oxygen Metabolism in ChildrenWho this might be right forSickle Cell DiseaseCerebral Stroke Washington University School of Medicine 350
Not applicableUnknownNCT04459169What this trial is testingCardiac Amyloidosis : Diagnostic Using Red Flag SignalsWho this might be right forCardiac Amyloidosis University Hospital Center of Martinique 424
Not applicableActive Not RecruitingNCT03694561What this trial is testingDeveloping a Management Approach for Patients With "Late-Onset" Pompe DiseaseWho this might be right forPompe DiseasePompe Disease (Late-onset)GAA Deficiency Duke University 20
Not applicableNot Yet RecruitingNCT07704606What this trial is testingMetabolites in Blood and Breath in Metabolic ConditionsWho this might be right forInborn Errors of MetabolismEpilepsy (Treatment Refractory) University Children's Hospital, Zurich 100
Large-scale testing (Phase 3)Study completedNCT03406104What this trial is testingRESCUE and REVERSE Long-term Follow-upWho this might be right forLeber Hereditary Optic Neuropathy GenSight Biologics 62
Not applicableActive Not RecruitingNCT04337684What this trial is testingLong Term Follow-up on Menkes Disease PatientsWho this might be right forMenkes Disease Sentynl Therapeutics, Inc. 50
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
Not applicableStudy completedNCT06539598What this trial is testingRespiratory Training in Friedreich's AtaxiaWho this might be right forFriedreich Ataxia University of Florida 1
Not applicableStudy completedNCT03147664What this trial is testingCardiopulmonary Exercise Test to Quantify Enzyme Replacement Response in Pediatric Pompe DiseaseWho this might be right forEnzyme Replacement Therapy in Pompe Disease Rambam Health Care Campus 5
Testing effectiveness (Phase 2)Study completedNCT00196716What this trial is testingThe Safety and Efficacy of Fabrazyme in Patients With Fabry DiseaseWho this might be right forFabry Disease Genzyme, a Sanofi Company 21
Not applicableEnded earlyNCT02204904What this trial is testingObservational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD)Who this might be right forX-Linked Adrenoleukodystrophy (X-ALD)Cerebral Adrenoleukodystrophy (CALD)Adrenoleukodystrophy (ALD) Genetix Biotherapeutics Inc. 59
Not applicableActive Not RecruitingNCT04929002What this trial is testingCarbon-13 Magnetic Resonance Spectroscopy in Glycogen Storage DiseasesWho this might be right forGlycogen Storage DiseaseMcArdle DiseasePompe Disease (Late-onset) Rigshospitalet, Denmark 50
Not applicableLooking for participantsNCT06880653What this trial is testingDose Response of Exercise for Arthritis ManagementWho this might be right forArthritisRheumatoid Arthritis (RA)Gout+3 more University of South Carolina 285
Not applicableStudy completedNCT02124330What this trial is testingProtein Sorbent Properties of Montmorillonite in Vitro and in Vivo ModelsWho this might be right forUrea Cycle Disorders, InbornOther Metabolic Diseases Luca Ronfani 35