PRO39 Caregiver Perspectives on the Humanistic Burden of Creatine Transporter Deficiency

Abstract

Creatine Transporter Deficiency (CTD) is a rare, X-linked, recessive disorder resulting in creatine deficiency, primarily in the brain. Patients with CTD can experience significant developmental delays in motor skills, speech, and cognition, as well as seizures and behavioral issues. The objective of this research was to gather data on the burden of CTD from the caregiver perspective.