Not applicableLooking for participantsNCT07301216What this trial is testingOff Treatment Urinary Copper Excretion in Wilson Disease, Pilot StudyWho this might be right forWilson Disease Yale University 30
Large-scale testing (Phase 3)Study completedNCT02770625What this trial is testingPhase III Study of ISU302 in Patients With Type 1 Gaucher DiseaseWho this might be right forGaucher Disease, Type 1 ISU Abxis Co., Ltd. 8
Not applicableStudy completedNCT01389947What this trial is testingMicrocirculation During Extracorporeal CirculationWho this might be right forMesenteric Ischemia Centre Hospitalier Universitaire de Besancon 66
Testing effectiveness (Phase 2)Looking for participantsNCT06687733What this trial is testingSafety and Efficacy Study of NGGT002 in Adult Patients With PhenylketonuriaWho this might be right forPhenylketonurias NGGT (Suzhou) Biotechnology Co., Ltd. 18
Post-approval studies (Phase 4)Active Not RecruitingNCT05164055What this trial is testingAvalglucosidase Alfa French Post-trial Access for Participants With Pompe Disease (PTA Avalglucosidase)Who this might be right forGlycogen Storage Disease Type II Genzyme, a Sanofi Company 17
Large-scale testing (Phase 3)Study completedNCT00272792What this trial is testingStudy of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted DietWho this might be right forPhenylketonurias BioMarin Pharmaceutical 45
Not applicableStudy completedNCT00688844What this trial is testingNutritional and Neurotransmitter Changes in PKU Subjects on BH4Who this might be right forPhenylketonuria Emory University 58
Testing effectiveness (Phase 2)Looking for participantsNCT07215416What this trial is testingSafety and Efficacy of Mutation-targeted Precision Genetic Therapy for Ataxia-Telangiectasia (A-T)Who this might be right forAtaxia Telangiectasia Timothy Yu 10
Not applicableStudy completedNCT01431326What this trial is testingPharmacokinetics of Understudied Drugs Administered to Children Per Standard of CareWho this might be right forAdenovirusAnesthesiaAnxiety+56 more Daniel Benjamin 3,520
Not applicableUnknownNCT01506258What this trial is testingAutologous Stem Cells in Newborns With Oxygen DeprivationWho this might be right forApgar; 0-3 at 1 MinuteMetabolic AcidosisHypoxia, Brain+1 more Hospital Universitario Dr. Jose E. Gonzalez 20
Not applicableLooking for participantsNCT03137355What this trial is testingThe International Registry for Leigh SyndromeWho this might be right forLeigh SyndromeLeigh DiseaseLeigh's Necrotizing Encephalopathy+2 more The University of Texas Health Science Center, Houston 200
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
Not applicableLooking for participantsNCT05659901What this trial is testingRocket Study: A Study to Characterize Biomarkers and Disease Progression in Participants With Pelizaeus-Merzbacher DiseaseWho this might be right forPelizaeus-Merzbacher Disease Ionis Pharmaceuticals, Inc. 32
Not applicableLooking for participantsNCT07130565What this trial is testingPan-Amyloid PET/CT in Various Amyloid-Related DiseaseWho this might be right forAmyloidCardiac AmyloidosisAmyloidosis Tianjin Medical University 500
Testing effectiveness (Phase 2)Study completedNCT06644534What this trial is testingAssess TTI-0102 vs Placebo in MELAS PatientsWho this might be right forMELAS SyndromeMitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS) Thiogenesis Therapeutics, Inc. 9
Not applicableStudy completedNCT02255981What this trial is testingEfficacy of Acupuncture in Macular DiseasesWho this might be right forAge-related Macular DegenerationStargardt DiseaseMacular Dystrophy Escuela Neijing 33
Not applicableStudy completedNCT00728364What this trial is testingAnderson-Fabry Disease in Chronic Kidney Disease Patients Not on Renal Replacement TherapyWho this might be right forFocus of Study: Prevalence of Fabry Disease in CKD Population Klinikum Wels-Grieskirchen 4,353
Post-approval studies (Phase 4)Study completedNCT03910621What this trial is testingSafety and Efficacy of Miglustat in Chinese NPC PatientsWho this might be right forNiemann-Pick Disease, Type C Actelion 17
Large-scale testing (Phase 3)Ended earlyNCT05676853What this trial is testingSafety of Weekly Subcutaneous Pegzilarginase in Subjects With Arginase 1 DeficiencyWho this might be right forArginase I DeficiencyHyperargininemia Aeglea Biotherapeutics 3
Testing effectiveness (Phase 2)Study completedNCT01962363What this trial is testingEPI-743 in Friedreich's Ataxia Point MutationsWho this might be right forFriedreich's Ataxia University of South Florida 4