Not applicableNot Yet RecruitingNCT07208565What this trial is testingEndocrine Dysfunction in Pediatric Wilson's DiseaseWho this might be right forWilson's Disease Assiut University 30
Not applicableLooking for participantsNCT05619900What this trial is testingRegistry of Patients Diagnosed With Lysosomal Storage DiseasesWho this might be right forMucopolysaccharidosis IMucopolysaccharidosis IIMucopolysaccharidosis IV A+5 more University of California, San Francisco 250
Not applicableLooking for participantsNCT06967831What this trial is testingDrug Repurposing for Mitochondrial Disorders Using iPSCs Derived Neural CellsWho this might be right forLeigh Syndrome (Maternally Inherited, MILS)Leigh Syndrome (AR, AD, XR) Charite University, Berlin, Germany 80
Not applicableActive Not RecruitingNCT07765472What this trial is testingSubclinical Myocardial Dysfunction in Children With Wilson's DiseaseWho this might be right forWilson's DiseaseMyocardial DysfunctionChildren+3 more Hebatullah Fawzy 72
Not applicableStudy completedNCT04910581What this trial is testingRTMS in Wilson Disease DysarthriaWho this might be right forWilson Disease Assistance Publique - Hôpitaux de Paris 18
Not applicableStudy completedNCT02740153What this trial is testingPCORI Urea Cycle Disorder StudyWho this might be right forUrea Cycle Disorders Children's National Research Institute 187
Large-scale testing (Phase 3)Study completedNCT00268944What this trial is testingSafety and Effectiveness Study of rhGAA in Patients With Advanced Late-Onset Pompe Disease Receiving Respiratory SupportWho this might be right forPompe Disease (Late-onset)Glycogen Storage Disease Type II (GSD-II)Acid Maltase Deficiency Disease+1 more Genzyme, a Sanofi Company 5
Not applicableStudy completedNCT00472732What this trial is testingNeurologic Injuries in Adults With Urea Cycle DisordersWho this might be right forBrain Diseases, Metabolic, InbornUrea Cycle DisorderOrnithine Transcarbamylase Deficiency Andrea Gropman 46
Testing effectiveness (Phase 2)Study completedNCT03771898What this trial is testingIntrathecal SHP611 in Children With Metachromatic LeukodystrophyWho this might be right forMetachromatic Leukodystrophy (MLD) Shire 36
Not applicableStudy completedNCT03081832What this trial is testingFollow-up of Prader Willi Syndrome Infants Treated by Oxytocin and Comparison With Not-treated Infants.Who this might be right forPrader-Willi Syndrome University Hospital, Toulouse 34
Testing effectiveness (Phase 2)Study completedNCT05485987What this trial is testingVatiquinone for the Treatment of Participants With Friedreich AtaxiaWho this might be right forFriedreich Ataxia PTC Therapeutics 5
Not applicableStudy completedNCT05252819What this trial is testingWhole Body MRI for Cancer Surveillance in A-TWho this might be right forAtaxia Telangiectasia University of Nottingham 32
Not applicableStudy completedNCT00074932What this trial is testingExpanded Access Use of Myozyme (Alglucosidase Alfa) in Patients With Late-onset Pompe DiseaseWho this might be right forGlycogen Storage Disease Type IIGlycogenosis 2 Genzyme, a Sanofi Company 9
Not applicableLooking for participantsNCT06121011What this trial is testingA Global Prospective Observational Registry of Patients With Pompe DiseaseWho this might be right forPompe Disease Amicus Therapeutics 500
Early research (Phase 1)Not Yet RecruitingNCT06735638What this trial is testingOutside the Cage (OTC) Robotic EsophagectomyWho this might be right forEsophageal Cancer Centre hospitalier de l'Université de Montréal (CHUM) 31
Not applicableStudy completedNCT02860338What this trial is testingCOMPARATIVE EFFECTIVENESS OF MCI and DEMENTIA TREATMENTS IN A COMMUNITY-BASED DEMENTIA PRACTICEWho this might be right forMild Cognitive ImpairmentDementiaHypoxia+14 more Clionsky Neuro Systems Inc. 900
Not applicableLooking for participantsNCT05813678What this trial is testingA Long-term, Post-marketing Safety Study of Palynziq in Patients With PKU (PALace)Who this might be right forPhenylketonuria (PKU) BioMarin Pharmaceutical 450
Not applicableStudy completedNCT05051657What this trial is testingEvaluation of the Express Plus RangeWho this might be right forPhenylketonuriasPKUHomocystinuria+3 more Vitaflo International, Ltd 28
Testing effectiveness (Phase 2)Study completedNCT00551200What this trial is testingDose-Escalation Safety Study of HPN-100 to Treat Urea Cycle DisordersWho this might be right forUrea Cycle Disorders Amgen 14
Testing effectiveness (Phase 2)Study completedNCT01721733What this trial is testingSafety and Efficacy Study of EPI-743 in Children With Leigh SyndromeWho this might be right forLeigh Syndrome PTC Therapeutics 35