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 Hospital
    Boston, Massachusetts, United States 02115
    Investigator: Irina Anselm, MD
    Study Coordinator: Grace Bezin


  • Texas Children’s Hospital
    Houston, Texas, United States 77030
    Investigator: V. Reid Sutton, MD
    Study Coordinator: Catherine Loffredo BSN, RN

Males with CTD will be screened at university clinics. Once enrolled in the study, participants will undergo a series of age-appropriate tests of physical and intellectual abilities. Follow-up testing will occur every 6 months.  In addition, parents or caregivers will be contacted every 2 months so researchers can keep track of any changes in the participant’s health and behavior.

Please see Clinicaltrial.gov listing to learn more about the study and view a listing of all 7 sites.

Creatine Transporter Deficiency (CTD) is one of three rare human genetic disorders of creatine biosynthesis and transport, all of which cause cerebral creatine deficiency syndromes (CCDS). Initially described in 2001, it is thought to be the second most common cause of X-linked intellectual disability and developmental delay after Fragile X Syndrome. The inability to transport creatine into brain cells can lead to intellectual disability, developmental delay, severe language deficits, autistic behaviors, and seizures. CTD is likely underdiagnosed. Currently, there are no approved treatments for CTD.