Not applicableUnknownNCT04646850What this trial is testingLong-term Treatment With the Ketogenic Diet in EpilepsyWho this might be right forEpilepsyGLUT1DS1PDH Deficiency Oslo University Hospital 30
Not applicableStudy completedNCT01965691What this trial is testingProtein Requirements in Children With Phenylketonuria (PKU)Who this might be right forPhenylketonuria University of British Columbia 4
Early research (Phase 1)Study completedNCT06193304What this trial is testingEvaluate Pharmacokinetic Parameters and Safety of Eliglustat Absorption Through the MouthWho this might be right forGaucher's Disease Sanofi 6
Not applicableStudy completedNCT07462026What this trial is testingExchangeable and Relative Exchangeable Copper as an Alternative to 24-Hour Urinary Copper in Wilson's Disease MonitoringWho this might be right forWilson's Disease Hacettepe University 81
Post-approval studies (Phase 4)Study completedNCT03687333What this trial is testingEvaluate Efficacy and Safety in Chinese Patients With Infantile-Onset Pompe Disease With One Year Alglucosidase Alfa TreatmentWho this might be right forGlycogen Storage Disease Type II Genzyme, a Sanofi Company 10
Not applicableStudy completedNCT05945784What this trial is testingExploring Accessible Beauty for Individuals With Upper Extremity DeficitsWho this might be right forStroke, IschemicStroke HemorrhagicStroke (CVA) or TIA+11 more Casa Colina Hospital and Centers for Healthcare 57
Not applicableStudy completedNCT04248062What this trial is testingPatient and Observer Reported Outcome Measurements in Inborn Errors of MetabolismWho this might be right forInborn Errors of MetabolismUrea Cycle DisorderMaple Syrup Urine Disease+5 more University Children's Hospital, Zurich 69
Not applicableWithdrawnNCT05755568What this trial is testingLearn About Metachromatic Leukodystrophy (MLD) in Children in SpainWho this might be right forMetachromatic Leukodystrophy (MLD) Takeda
Not applicableWithdrawnNCT01425489What this trial is testingBiomarker for Krabbe Disease (BioKrabbe)Who this might be right forKrabbe Disease CENTOGENE GmbH Rostock
Not applicableLooking for participantsNCT01668186What this trial is testingLongitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)Who this might be right forPeroxisome Biogenesis DisorderZellweger Spectrum DisorderRCDP - Rhizomelic Chondrodysplasia Punctata+8 more McGill University Health Centre/Research Institute of the McGill University Health Centre 244
Testing effectiveness (Phase 2)Study completedNCT00887562What this trial is testingStudy of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis & Stroke-like EpisodesWho this might be right forMELAS Syndrome Michio Hirano 27
Not applicableEnded earlyNCT04909346What this trial is testingAdeno-Associated Virus (AAV) Antibody Study in Subjects OTC Deficiency, GSDIa, and Wilson DiseaseWho this might be right forOrnithine Transcarbamylase DeficiencyWilson DiseaseGlycogen Storage Disease Type IA Ultragenyx Pharmaceutical Inc 51
Not applicableEnrolling By InvitationNCT05368038What this trial is testingScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening ProgramWho this might be right forAcid Sphingomyelinase DeficiencyCeroid Lipofuscinosis, Neuronal, 2Cerebrotendinous Xanthomatosis+11 more Albert Einstein College of Medicine 100,000
Not applicableStudy completedNCT02596087What this trial is testingImproving Quality by Maintaining Accurate Problems in the EHRWho this might be right forAsthmaAtrial FibrillationChronic Obstructive Pulmonary Disease+10 more Brigham and Women's Hospital 2,386
Testing effectiveness (Phase 2)WithdrawnNCT03884959What this trial is testingA Safety and Efficacy Study of Infusions of HepaStem in Urea Cycle Disorders Pediatric PatientsWho this might be right forUrea Cycle Disorder HLB Cell Co., Ltd.
Testing effectiveness (Phase 2)Study completedNCT03513328What this trial is testingConditioning Regimen for Allogeneic Hematopoietic Stem-Cell TransplantationWho this might be right forBone Marrow Failure SyndromeThalassemiaSickle Cell Disease+13 more University of Florida 6
Not applicableLooking for participantsNCT02316314What this trial is testingCharacterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)Who this might be right forFriedreich's Ataxia Weill Medical College of Cornell University 100
Not applicableNot Yet RecruitingNCT07075393What this trial is testingDescription of Renal Involvement in Wilson's DiseaseWho this might be right forWilson Disease Fondation Ophtalmologique Adolphe de Rothschild 150
Testing effectiveness (Phase 2)Not Yet RecruitingNCT07715084What this trial is testingStudy to Evaluate the Efficacy and Safety of Nizubaglustat (AZ-3102) in Patients With Gaucher Disease Type 3 (GD3)Who this might be right forGaucher Disease Type 3 Azafaros B.V. 20
Early research (Phase 1)Study completedNCT01568749What this trial is testingA Study Investigating the Pharmacokinetic Profiles of Four Extended Release Paracetamol FormulationsWho this might be right forAnalgesia GlaxoSmithKline 14