Not applicableStudy completedNCT00004356What this trial is testingStudy of Homocysteine Metabolism in HomocystinuriaWho this might be right forHomocystinuria National Center for Research Resources (NCRR) 60
Testing effectiveness (Phase 2)Study completedNCT02404337What this trial is testingBetaine METABOLISM OF PATIENTS With HomocystinuriaWho this might be right forHomocystinuria Assistance Publique - Hôpitaux de Paris 12
Early research (Phase 1)Study completedNCT05462132What this trial is testingSafety, Tolerability and Pharmacodynamics of SYNB1353 in Healthy Adult VolunteersWho this might be right forHomocystinuria Synlogic 31
Testing effectiveness (Phase 2)Study completedNCT01793090What this trial is testingEPI-743 in Cobalamin C Defect: Effects on Visual and Neurological ImpairmentWho this might be right forMethylmalonic Aciduria and Homocystinuria,Cblc TypeGenetic DiseaseRetinopathy Bambino Gesù Hospital and Research Institute 30
Testing effectiveness (Phase 2)Study completedNCT01192828What this trial is testingOxidative Stress Markers In Inherited Homocystinuria And The Impact Of TaurineWho this might be right forHomocystinuria University of Colorado, Denver 15
Large-scale testing (Phase 3)Active Not RecruitingNCT06247085What this trial is testingInvestigate Efficacy and Safety of Pegtibatinase Compared With Placebo in Participants ≥12 to ≤65 Years of Age With Classical Homocystinuria (HCU) Due to Cystathionine Beta Synthase Deficiency Receiving Standard of Care TreatmentWho this might be right forHomocystinuria Travere Therapeutics, Inc. 70
Testing effectiveness (Phase 2)Ended earlyNCT05154890What this trial is testingA Multiple Ascending Dose Study of ACN00177 (Pegtarviliase) in Subjects With CBS DeficiencyWho this might be right forHomocystinuria Due to Cystathionine Beta-Synthase Deficiency Aeglea Biotherapeutics 13
Not applicableLooking for participantsNCT02998710What this trial is testingNatural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (ACAPPELLA)Who this might be right forHomocystinuria Due to CBS Deficiency Travere Therapeutics, Inc. 150
Testing effectiveness (Phase 2)Study completedNCT00483314What this trial is testingHomocystinuria: Treatment With N-AcetylcysteineWho this might be right forHomocystinuria McGill University Health Centre/Research Institute of the McGill University Health Centre 5
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 applicableEnrolling By InvitationNCT03655223What 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
Not applicableActive Not RecruitingNCT05051657What this trial is testingEvaluation of the Express Plus RangeWho this might be right forPhenylketonuriasPKUHomocystinuria+3 more Vitaflo International, Ltd 28
Not applicableEnrolling By InvitationNCT06545305What this trial is testingIncidence and Risk Factors of Ocular Complications Among Patients With HomocystinuriaWho this might be right forComplications King Fahad Armed Forces Hospital 6
Testing effectiveness (Phase 2)Temporarily pausedNCT04015557What this trial is testingEffect of Acetaminophen and N-Acetylcysteine on Liver Metabolism on HomocystinuriaWho this might be right forCBS Deficiency Hospital de Clinicas de Porto Alegre 10
Not applicableUnknownNCT05910151What this trial is testingSelective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in KazakhstanWho this might be right forPropionic/Methylmalonic AcidemiasMaple Syrup Urine DiseaseCitrullinemia+26 more West Kazakhstan Medical University 2,250
Not applicableNot Yet RecruitingNCT06622577What 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
Testing effectiveness (Phase 2)Active Not RecruitingNCT03406611What this trial is testingPegtibatinase As an Enzyme Therapy for Patients with Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (COMPOSE)Who this might be right forHomocystinuria Travere Therapeutics, Inc. 32
Not applicableActive Not RecruitingNCT06495567What this trial is testingProof of Concept Creatine Supplementation for Homocystinuria StudyWho this might be right forHomocystinuria University of British Columbia 9
Not applicableLooking for participantsNCT04880356What this trial is testingLongitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.Who this might be right forInherited DiseaseRare DiseasesMetabolic Disease+3 more Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta 100
Not applicableStudy completedNCT04021732What this trial is testingEffects of Exercise on Metabolic Parameters in Classical HomocystinuriaWho this might be right forHomocystinuria University of Lausanne 12