Not applicableEnded earlyNCT01541722What this trial is testingOxidative Stress, Inflammation and Acute Decompensation in Urea Cycle DisordersWho this might be right forUrea Cycle Disorders Mark Batshaw 10
Early research (Phase 1)Ended earlyNCT03396575What this trial is testingBrain Stem Gliomas Treated With Adoptive Cellular Therapy During Focal Radiotherapy Recovery Alone or With Dose-intensified Temozolomide (Phase I)Who this might be right forDiffuse Intrinsic Pontine Glioma (DIPG)Brain Stem Glioma University of Florida 11
Testing effectiveness (Phase 2)WithdrawnNCT06147856What this trial is testingA Dose-finding Study to Evaluate mRNA-3210 in Participants With PhenylketonuriaWho this might be right forPhenylketonuria ModernaTX, Inc.
Testing effectiveness (Phase 2)Not Yet RecruitingNCT07740512What this trial is testingSafety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of PLX-200 in Pediatric Patients (Master Protocol)Who this might be right forLysosomal Storage DisordersSandhoff DiseaseKrabbe Disease+2 more Polaryx Therapeutics, Inc. 24
Testing effectiveness (Phase 2)Ended earlyNCT01435772What this trial is testingExtension Study for Patients Who Have Participated in a BMN 701 StudyWho this might be right forPompe Disease BioMarin Pharmaceutical 21
Not applicableActive Not RecruitingNCT03636438What this trial is testingLong Term Follow Up to Evaluate DTX301 in Adults With Late-Onset OTC DeficiencyWho this might be right forOrnithine Transcarbamylase (OTC) Deficiency Ultragenyx Pharmaceutical Inc 11
Testing effectiveness (Phase 2)Study completedNCT00418847What this trial is testingPharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 GangliosidosisWho this might be right forGangliosidoses GM2 The Hospital for Sick Children 5
Testing effectiveness (Phase 2)Looking for participantsNCT05629559What this trial is testing4D-310 in Adults With Fabry Disease and Cardiac InvolvementWho this might be right forFabry Disease 4D Molecular Therapeutics 18
Testing effectiveness (Phase 2)Study completedNCT00025896What this trial is testingSafety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infantile Pompe DiseaseWho this might be right forPompe DiseaseGlycogen Storage Disease Type IIAcid Maltase Deficiency Disease+1 more Genzyme, a Sanofi Company 8
Not applicableStudy completedNCT05076318What this trial is testingDysregulated Urea-synthesis at Terminal UremiaWho this might be right forUrea Cycle DisorderUremia University of Aarhus 10
Not applicableLooking for participantsNCT07545473What this trial is testingRetinal Hyperspectral Imaging in Neurodegenerative DiseasesWho this might be right forDementiaNeurodegenerative DiseasesAlzheimer Disease+5 more Center for Eye Research Australia 930
Not applicableStudy completedNCT04429984What this trial is testingPost Marketing Surveillance (PMS) Study for Velaglucerase Alfa (VPRIV) in IndiaWho this might be right forGaucher Disease Shire 21
Testing effectiveness (Phase 2)Study completedNCT01981720What this trial is testingExtension Study of PRX-102 for up to 60 MonthsWho this might be right forFabry Disease Protalix 15
Not applicableStudy completedNCT05923788What this trial is testingT1 Mapping in Fabry DiseaseWho this might be right forFabry Disease Hospices Civils de Lyon 70
Early research (Phase 1)Looking for participantsNCT05241262What this trial is testingStudy of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione LevelsWho this might be right forMitochondrial Disease Michio Hirano, MD 18
Not applicableLooking for participantsNCT05904301What this trial is testingArmenian NAtionwide REGistry of Systemic Autoimmune and Autoinflammatory DiseasesWho this might be right forBehcet DiseaseAntineutrophil Cytoplasmic Antibody (ANCA) Positive VasculitisTakayasu Arteritis+6 more Santé Arménie French-Armenian Research Center 800
Early research (Phase 1)Study completedNCT02536911What this trial is testingThe Effects of Hepatic Impairment on the Pharmacokinetics and Tolerability of Eliglustat TartrateWho this might be right forGaucher Disease Genzyme, a Sanofi Company 24
Not applicableStudy completedNCT04761588What this trial is testingEvaluation of TYR Sphere in FranceWho this might be right forTyrosinemiaAKU Vitaflo International, Ltd 14
Not applicableLooking for participantsNCT04965545What this trial is testingRole for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson DiseaseWho this might be right forWilson Disease Second Affiliated Hospital, Zhejiang University, School of Medicine 1,000
Not applicableLooking for participantsNCT04440254What this trial is testingLong Duration Holter ECG in Fabry DiseaseWho this might be right forFabry Disease Institut National de la Santé Et de la Recherche Médicale, France 40