Not applicableStudy completedNCT04196959What this trial is testingEvaluation of TYR SphereWho this might be right forTyrosinemiasAlkaptonuriaTyrosinemia, Type I+2 more Vitaflo International, Ltd 18
Not applicableWithdrawnNCT06227429What this trial is testingA Non-interventional, Post-Marketing Study to Describe Outcome of Nitisinone Treatment in HT-1 PatientsWho this might be right forHereditary Tyrosinemia, Type I Swedish Orphan Biovitrum
Large-scale testing (Phase 3)Study completedNCT02323529What this trial is testingEfficacy and Safety of Once Daily Dosing Compared to Twice Daily Dosing of Nitisinone in HT-1Who this might be right forHereditary Tyrosinemia, Type I Swedish Orphan Biovitrum 18
Not applicableStudy completedNCT00004443What this trial is testingStudy of NTBC for Tyrosinemia IWho this might be right forTyrosinemia I University of Washington 20
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 applicableUnknownNCT04113772What this trial is testingBio Equivalency 20 Mgm Orfadin and 20 Mgm of NitisonineWho this might be right forHereditary Tyrosinemia, Type I Sutphin Drugs 4
Not applicableActive Not RecruitingNCT05051657What this trial is testingEvaluation of the Express Plus RangeWho this might be right forPhenylketonuriasPKUHomocystinuria+3 more Vitaflo International, Ltd 28
Early research (Phase 1)Study completedNCT01734889What this trial is testingTaste and Palatability of Orfadin SuspensionWho this might be right forHereditary Tyrosinemia, Type I Swedish Orphan Biovitrum 18
Not applicableStudy completedNCT02320084What this trial is testingLong Term Safety Study of Orfadin Treatment in HT-1 Patients in Standard Clinical CareWho this might be right forHereditary Tyrosinemia, Type I Swedish Orphan Biovitrum 315
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
Early research (Phase 1)Study completedNCT02750332What this trial is testingBioavailability Food-Effect Study of an Oral Nitisinone Formulation to Treat Hereditary Tyrosinemia (HT-1)Who this might be right forHereditary Tyrosinemia, Type I Cycle Pharmaceuticals Ltd. 20
Not applicableUnknownNCT03446586What this trial is testingHereditary Hepatorenal Tyrosinemia Natural History in Egypt and the Arab World (Multicenter Clinical Study)Who this might be right forHereditary Tyrosinemia, Type I Yassin Abdelghaffar Charity Center for Liver Disease and Research 50
Testing effectiveness (Phase 2)Study completedNCT00004333What this trial is testingPhase II Study of the Enzyme Inhibitor NTBC for Tyrosinemia Type IWho this might be right forTyrosinemia, Type I National Center for Research Resources (NCRR)
Early research (Phase 1)Study completedNCT02750345What this trial is testingBioequivalence Study of Two Oral Nitisinone Formulations to Treat Hereditary Tyrosinemia (HT-1)Who this might be right forHereditary Tyrosinemia, Type I Cycle Pharmaceuticals Ltd. 24
Early research (Phase 1)Study completedNCT02750709What this trial is testingBioequivalence Study of Two Nitisinone Formulations Compared to OrfadinWho this might be right forHereditary Tyrosinemia, Type I Cycle Pharmaceuticals Ltd. 24
Not applicableNot Yet RecruitingNCT06298292What this trial is testingAcceptability/Tolerance of Protein Substitutes in Tablet Form for the Dietary Management of Rare AminoacidopathiesWho this might be right forTyrosinemia, Type ITyrosinemia, Type IITyrosinemia, Type III+3 more metaX Institut fuer Diatetik GmbH 15