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.


February 1st is
CCDS Awareness Day!

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Latest News

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, […]


Lumos Pharma launches ScreenCreatine...

Austin, Texas – March 15, 2017 ScreenCreatine Project: Disease awareness website launched to expand understanding and resources associated with Cerebral Creatine Deficiency Syndromes (CCDS) including Creatine Transporter Deficiency (CTD) Today, Lumos Pharma launches the disease awareness website ScreenCreatine.org, part of the ScreenCreatine Project.  ScreenCreatine.org was developed to provide health literate information about the three creatine […]