Creatine Transporter Deficiency

is an x-linked inborn error of creatine metabolism that results in an absence of creatine in the brain that can lead to intellectual disability, developmental delay, expressive speech deficits, autistic behaviors, and seizures.


Latest News

The RareChildNeuro 75% Fact..

By Carol A. Dutch – Senior Director, Patient Engagement, Lumos Pharma Thanks to the human genome project, thousands of diseases and disorders have been identified and most of these can be characterized as rare and inherited. Facts like “There are over 7000 rare diseases identified” and “There are more than 350 million people in the world living with […]


7 CTD Study Sites Now Open..

The Vigilan Study – Observational Study of Creatine Transporter Deficiency (CTD) of Males, now has seven study sites open for patient enrollment. The newest 3 sites to join the Vigilan Study are: University of California San Diego La Jolla, California, United States 92037 Investigator: Bruce Barshop, MD, PhD Study Coordinator: David Ashley   Boston Children’s […]


Two new Vigilan sites open at Duke an..

Duke University Medical Center in Durham, North Carolina and Rush University Medical Center in Chicago, Illinois are now recruiting individuals to participate in a two-year prospective observational study of males with Creatine Transporter Deficiency (CTD), named the Vigilan Study. Dwight Koerberl, MD, PhD is the principal investigator (PI) at Duke University, and Elizabeth Berry-Kravis, MD, […]