Testing effectiveness (Phase 2)Study completedNCT01965327What this trial is testingInterferon Gamma-1b in Friedreich Ataxia (FRDA)Who this might be right forFriedreich Ataxia Children's Hospital of Philadelphia 12
Not applicableUnknownNCT01695161What this trial is testingNon-invasive Assessment of Intraocular Pressure in MPS by Use of the Ocular Response Analyzer.Who this might be right forMucopolysaccharidosisFabry Disease Johannes Gutenberg University Mainz 75
Not applicableNo Longer AvailableNCT02021266What this trial is testingSingle Patient Expanded Access Protocol: Metabolic BoostWho this might be right forMetachromatic Leukodystrophy Talaris Therapeutics Inc.
Not applicableUnknownNCT04090268What this trial is testingPrecision Exercise in Children With Malignant HemopathiesWho this might be right forLeukemia, Myeloid, AcuteLeukemia, B-cellLeukemia, T Cell+5 more University of Milano Bicocca 380
Large-scale testing (Phase 3)Study completedNCT02961803What this trial is testingMD1003-AMN MD1003 in AdrenomyeloneuropathyWho this might be right forAdrenomyeloneuropathyAdrenoleukodystrophyAMN MedDay Pharmaceuticals SA 67
Not applicableStudy completedNCT03792451What this trial is testingNutrition Status of Adults Treated With PegvaliaseWho this might be right forPhenylketonurias Boston Children's Hospital 18
Not applicableNot Yet RecruitingNCT05669729What this trial is testingA Survey to Assess Participants', Caregivers', and Nurses' Use and Understanding of Educational Material on Velaglucerase Alfa (VPRIV) Home InfusionWho this might be right forGaucher Disease Takeda 60
Not applicableLooking for participantsNCT06692296What this trial is testingEfficacy of Stabilometric Platform to Improve Standing Balance in Patients With Friedreich's AtaxiaWho this might be right forFriedreich Ataxia IRCCS Eugenio Medea 24
Not applicableUnknownNCT04184986What this trial is testingScreening of Fabry Disease in Patients With GI SymptomsWho this might be right forFabry Disease General University Hospital, Prague 200
Not applicableLooking for participantsNCT05724173What this trial is testingFeasibility of the BrainGate2 Neural Interface System in Persons With TetraplegiaWho this might be right forAnarthriaDysarthriaTetraplegia+5 more Leigh R. Hochberg, MD, PhD. 3
Not applicableNot Yet RecruitingNCT07241845What this trial is testingEpiretinal Membrane in Patients With DR.Who this might be right forEpiretinal Membrane Assiut University 225
Not applicableUnknownNCT02635269What this trial is testingFat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyWho this might be right forMetabolism, Inborn ErrorsLipid Metabolism, Inborn ErrorsCarbohydrate Metabolism, Inborn Errors+20 more Rigshospitalet, Denmark 60
Large-scale testing (Phase 3)Study completedNCT00319046What this trial is testingClinical Study to Evaluate the Long Term Efficacy, Safety and Tolerability of Miglustat in Patients With Stable Type 1 Gaucher DiseaseWho this might be right forGaucher Disease Type 1 Actelion 42
Not applicableStudy completedNCT00001331What this trial is testingGenetic and Family Studies of Inherited Muscle DiseasesWho this might be right forDermatomyositisGlycogen Storage Disease Type IIGlycogen Storage Disease Type VII+2 more National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Testing effectiveness (Phase 2)Study completedNCT04422431What this trial is testingCopper Concentration & Histopathologic Changes in Liver Biopsy in Participants With Wilson Disease Treated With ALXN1840Who this might be right forWilson Disease Alexion Pharmaceuticals, Inc. 31
Large-scale testing (Phase 3)Study completedNCT00864851What this trial is testingSafety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry DiseaseWho this might be right forFabry Disease Shire 44
Large-scale testing (Phase 3)Active Not RecruitingNCT05270837What this trial is testingStudy to Evaluate the Safety and Efficacy of Pegvaliase in Adolescents (Ages 12-17) With PhenylketonuriaWho this might be right forPhenylketonuria (PKU) BioMarin Pharmaceutical 55
Not applicableStudy completedNCT05388357What this trial is testingAI Quantitative Coronary Angiography Versus Optical Coherent Tomography Guidance for Coronary Stent ImplantationWho this might be right forCoronary VesselsProcedure PCI Asan Medical Center 400
Testing effectiveness (Phase 2)Study completedNCT00517153What this trial is testingMiglustat in Niemann-Pick Type C DiseaseWho this might be right forNiemann-Pick Type C Disease Actelion 29
Testing effectiveness (Phase 2)Ended earlyNCT04455230What this trial is testingA Long Term Follow-Up Study of Fabry Disease Subjects Treated With FLT190Who this might be right forFabry DiseaseLysosomal Storage Diseases Spur Therapeutics 3