Observational Study of Males with Creatine Transporter Deficiency (CTD)

This is a multi-center 4 year natural history study of males with Creatine transporter deficiency (CTD). The goal of the study was to collect baseline, longitudinal clinical as well as biochemical data on individuals with CTD. Males between the ages of 2-40 with genetically confirmed CTD were eligible for the study. Visits occurred every 6-12 months and included neurodevelopmental assessment, including speech and swallow assessment, cardiac evaluation. Subjects also had one magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) assessment over the 4 weeks of the study.