Clinical Trial: Observational Study of Males With Creatine Transporter Deficiency

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational




Official Title: Observational Study of Males With Creatine Transporter Deficiency

Brief Summary: With only limited prospective longitudinal data currently available on Creatine Transporter Deficiency (CTD), its natural history is at present incompletely understood. This international study is designed to provide additional insights into disease progression, to characterize how patients perform on clinical neurodevelopmental assessments, and to evaluate magnetic resonance spectroscopy (MRS) and event-related potentials (ERPs) in patients with CTD.