Not applicableStudy completedNCT00007124What this trial is testingKetogenic Diet in Lafora DiseaseWho this might be right forLafora Disease National Institute of Neurological Disorders and Stroke (NINDS) 15
Large-scale testing (Phase 3)Looking for participantsNCT06255782What this trial is testingAn Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC DeficiencyWho this might be right forOrnithine Transcarbamylase DeficiencyOrnithine Transcarbamylase Deficiency DiseaseOrnithine Carbamoyltransferase Deficiency (Disorder)+1 more iECURE, Inc. 20
Not applicableStudy completedNCT03269461What this trial is testingSerial OCT Evaluation of Tissue Coverage in Patients Submitted to Inspiron Drug Eluting Stent ImplantationWho this might be right forCoronary Artery Disease Scitech Produtos Medicos SA 60
Not applicableStudy completedNCT00015782What this trial is testingThe Natural History and Pathogenesis of Mucolipidosis Type IVWho this might be right forMucolipidosis Type IV National Institute of Neurological Disorders and Stroke (NINDS) 30
Testing effectiveness (Phase 2)Study completedNCT00001262What this trial is testingCopper Histidine Therapy for Menkes DiseasesWho this might be right forKinky Hair Syndrome Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 60
Not applicableEnded earlyNCT01806051What this trial is testingA Pilot Study on Diurnal VariationWho this might be right forPhenylketonuria (PKU) Dr. Linda Randolph 6
Early research (Phase 1)Ended earlyNCT02185651What this trial is testingA Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated ReactionWho this might be right forPompe DiseaseHypersensitivity Reaction University of Florida 2
Not applicableAvailableNCT04316637What this trial is testingEarly Access Program With Arimoclomol in US Patients With NPCWho this might be right forNiemann-Pick Disease, Type C ZevraDenmark
Not applicableStudy completedNCT01268241What this trial is testingThe Efficacy and Safety of Switch Between Agalsidase Beta to Agalsidase Alfa for Enzyme Replacement in Patients With Anderson-Fabry DiseaseWho this might be right forFabry DiseaseFabry´s DiseaseAnderson-Fabry Disease CENTOGENE GmbH Rostock 200
Large-scale testing (Phase 3)Looking for participantsNCT06971731What this trial is testingJNT-517 in Participants With Phenylketonuria (PKU)Who this might be right forPhenylketonuria Otsuka Pharmaceutical Development & Commercialization, Inc. 120
Not applicableStudy completedNCT00351156What this trial is testingStudy to Evaluate Blood Cell Lines From Patients With Gaucher DiseaseWho this might be right forGaucher Disease Amicus Therapeutics 50
Not applicableUnknownNCT06303466What this trial is testingReal World Evidence Study of Danish Fabry PatientsWho this might be right forFabry Disease Caroline Michaela Kistorp 115
Not applicableUnknownNCT06622577What this trial is testingThe Effect of Dietary Management and Cysteine Supplementation on Growth Parameters and Biochemical Control for Pediatric Qatari Patients Affected with Classical B6 Non-responsive Homocystinuria.Who this might be right forClassical Homocystinuria Hamad Medical Corporation 50
Not applicableStudy completedNCT00655681What this trial is testingPrevention of Post Operative Bone Loss in ChildrenWho this might be right forOsteoporosisCerebral PalsySpina Bifida+2 more University of New Mexico 24
Not applicableUnknownNCT01304875What this trial is testingPulmonary Disease and Exercise Tolerance in Boys With Fabry DiseaseWho this might be right forFabry Disease Cedars-Sinai Medical Center 20
Large-scale testing (Phase 3)Study completedNCT04902781What this trial is testingClinical Benefit, Safety, PK and PD Study of AT-007 in Pediatric Subjects With Classic GalactosemiaWho this might be right forClassic Galactosemia Applied Therapeutics, Inc. 47
Not applicableLooking for participantsNCT07664930What this trial is testingPhrenic Nerve and Diaphragm Electrophysiology in Pompe DiseaseWho this might be right forPompe Disease IRCCS National Neurological Institute "C. Mondino" Foundation 20
Testing effectiveness (Phase 2)Study completedNCT04921930What this trial is testingEvaluation of the Effect of Artesunate in Friedreich Ataxia (FA)Who this might be right forFriedreich Ataxia Institut National de la Santé Et de la Recherche Médicale, France 20
Not applicableActive Not RecruitingNCT06052800What this trial is testingAgalsidase Beta Long-Term Treatment Outcome for Fabry Disease Patients With IVS4 Mutation in TaiwanWho this might be right forFabry Disease Sanofi 78
Testing effectiveness (Phase 2)WithdrawnNCT01791192What this trial is testingStudy of FTY720 in Patients With UveitisWho this might be right forAcute Noninfectious Posterior, Intermediate, or Pan Uveitis Novartis Pharmaceuticals