The Urea Cycle Disorders Consortium (UCDC), directed by Dr. Mark Batshaw is currently conducting a longitudinal, natural history study involving medical record reviews, physical exams, laboratory testing, nutrition analysis and neuropsychological testing of individuals with UCD in order to learn more about the disorders, their treatment, and ways to help improve outcomes for affected patients.
Clinical and Translational Science Award (CTSA) Programs are playing a vital role in the success of this study at the UCDC's US based sites. Of the twelve UCDC member-institutions located in the US, nine have CTSA programs and another is in the process of transitioning from a General Clinical Research Center to a CTSA program. According to Jennifer Seminara at National Children's Hospital, six of these CTSA programs provide services used for the Longitudinal Study of Urea Cycle Disorders, such as rooms for physical exams and participant interviews, nursing services, phlebotomy, research assistant support, psychological services, and nutritional analysis. The specialized infrastructure support offered through the CTSA programs helps to reduce the UCDC's operating costs since the CTSA programs can be used on an as-needed basis.
Web Site for the Urea Cycle Disorders Consortium: www.RareDiseasesNetwork.org/ucdc/
Mark L. Batshaw, MD
Principal Investigator, Urea Cycle Disorders Consortium
Chief Academic Officer
Children's National Medical Center
Professor and Chair, Department of Pediatrics
Associate Dean for Academic Affairs
The George Washington University School of Medicine and Health Sciences
