Not applicableLooking for participantsNCT03409003What this trial is testingOrphan Europe Carbaglu® Surveillance ProtocolWho this might be right forN-acetylglutamate Synthase (NAGS) Deficiency Nicholas Ah Mew 30
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
Not applicableEnded earlyNCT01421888What this trial is testingThe NIH UNI Study: Urea Cycle Disorders, Nutrition and ImmunityWho this might be right forArgininosuccinic AciduriaCarbamoyl-Phosphate Synthase I DeficiencyCitrullinemia+3 more National Human Genome Research Institute (NHGRI) 4