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 applicableStudy completedNCT00894920What this trial is testingBiotin Status in PregnancyWho this might be right forBiotin Deficiency University of Arkansas 124
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 applicableStudy completedNCT02011191What this trial is testingBiotin Deficiency and Restless Legs SyndromeWho this might be right forEnd Stage Renal DiseaseRestless Legs Syndrome Heidi Moretti, MS, RD 49
Not applicableStudy completedNCT03268681What this trial is testingBIOtinidase Test In Optic-NeuropathyWho this might be right forBiotin DeficiencyOptic Neuropathy Fondation Ophtalmologique Adolphe de Rothschild 12