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.


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Latest News

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 […]


Lumos Pharma Celebrates Worldwide Rar..

One in ten individuals are living with a rare disease.   On the last day of February every year, hundreds of patient organizations from more than 80 countries conduct awareness-raising activities to celebrate Rare Disease Day. In honor of the 10th annual Rare Disease Day, Lumos Pharma has created the below video “Screen Creatine NOW!” in […]