Not applicableStudy completedNCT07074041What this trial is testingRadiomic Analysis in OCT Imaging of Acquired Vitelliform Lesions.Who this might be right forVITELLIFORM LESIONS Federico II University 50
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 applicableStudy completedNCT05687474What this trial is testingBaby Detect : Genomic Newborn ScreeningWho this might be right forCongenital Adrenal HyperplasiaFamilial Hyperinsulinemic Hypoglycemia 1Phosphoglucomutase 1 Deficiency+121 more Centre Hospitalier Universitaire de Liege 6,824
Not applicableStudy completedNCT05330039What this trial is testingCharacterization of Intestinal Microbiota in Children With Inborn Errors of Metabolism (IEM)Who this might be right forInborn Errors of MetabolismPropionic AciduriaMethylmalonic Aciduria+1 more Emma Marie Caroline Slack 22
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 applicableActive Not RecruitingNCT03655223What this trial is testingEarly Check: Expanded Screening in NewbornsWho this might be right forSpinal Muscular AtrophyFragile X SyndromeFragile X - Premutation+182 more RTI International 30,000
Early research (Phase 1)Ended earlyNCT00004386What this trial is testingPhase I Pilot Study of Liver-Directed Gene Therapy for Partial Ornithine Transcarbamylase DeficiencyWho this might be right forOrnithine Transcarbamylase Deficiency Disease Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Not applicableLooking for participantsNCT01793168What this trial is testingRare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordWho this might be right forRare DisordersUndiagnosed DisordersDisorders of Unknown Prevalence+340 more Sanford Health 20,000
Post-approval studies (Phase 4)Study completedNCT02246218What this trial is testingThe Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under 2 Years of Age With Urea Cycle DisordersWho this might be right forUrea Cycle Disorder Amgen 27
Early research (Phase 1)Active Not RecruitingNCT06247670What this trial is testingStudy of CMP-CPS-001 in Healthy Volunteers and Participants With Abnormal Heterozygous OTC GenotypeWho this might be right forHealthy VolunteersOTC Deficiency CAMP4 Therapeutics Corporation 120
Not applicableStudy completedNCT02252770What this trial is testingNitric Oxide Supplementation in Argininosuccinic AciduriaWho this might be right forArgininosuccinic AciduriaArgininosuccinate Lyase DeficiencyUrea Cycle Disorders Baylor College of Medicine 12
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 completedNCT01765283What this trial is testingSafety Study of HepaStem for the Treatment of Urea Cycle Disorders (UCD) and Crigler-Najjar Syndrome (CN)Who this might be right forUrea Cycle DisordersCrigler Najjar Syndrome Cellaion SA 20
Not applicableStudy completedNCT02051049What this trial is testingLong-term Safety Follow-up Study of Patients Having Received HepaStem (SAF001)Who this might be right forUrea Cycle DisordersCrigler Najjar Syndrome Cellaion SA 9
Not applicableStudy completedNCT04269122What this trial is testingAssess Plasma Ammonia Time-Normalized Area Under the Curve and Rate of Ureagenesis in Healthy Adult SubjectsWho this might be right forOrnithine Transcarbamylase Deficiency Ultragenyx Pharmaceutical Inc 120
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
Not applicableStudy completedNCT03797131What this trial is testingClinical Food Study to Evaluate the Effect of KB195 on Gut Nitrogen Metabolism in Patients With Urea Cycle DisordersWho this might be right forUrea Cycle Disorders Kaleido Biosciences 4
Testing effectiveness (Phase 2)WithdrawnNCT03767270What this trial is testingSafety, Tolerability and PK/PD Evaluation of Intravenous Administration of MRT5201 in Patients With OTC DeficiencyWho this might be right forOrnithine Transcarbamylase Deficiency Translate Bio, Inc.
Not applicableEnded earlyNCT01948427What this trial is testingObservational Study That Will Collect Information on Patients With Urea Cycle Disorders (UCDs)Who this might be right forUrea Cycle Disorder Amgen 203
Testing effectiveness (Phase 2)Study completedNCT00004767What this trial is testingPhase II Study of Sodium Phenylbutyrate, Sodium Benzoate, Sodium Phenylacetate, and Dietary Intervention for Urea Cycle DisordersWho this might be right forAmino Acid Metabolism, Inborn Errors National Center for Research Resources (NCRR) 20