Testing effectiveness (Phase 2)Study completedNCT03269045What this trial is testingStudy of ORL-1B in Patients With Biotinidase DeficiencyWho this might be right forBiotinidase Deficiency Orpha Labs 20
Not applicableLooking for participantsNCT06723925What this trial is testingNeonatal Screening of Biotinidase Deficiency: Genotype-phenotype Correlation and Clinical Follow-upWho this might be right forBiotinidase Deficiency IRCCS Azienda Ospedaliero-Universitaria di Bologna 180
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 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