When initially funded, the UCDC consisted of five sites: Children’s National Medical Center in Washington, D.C. (CNMC) (lead institution); Baylor College of Medicine in Houston, Texas; Children’s Hospital of Philadelphia (CHOP) in Pennsylvania; University of California Los Angeles in California; and Vanderbilt University Medical Center in Nashville, Tennessee. Subsequent to receiving NIH grant funding, the UCDC received a five year matching grant from the O’Malley Family Foundation. This gift permitted the addition of two additional sites in 2004, one at Mount Sinai School of Medicine in New York City and a second at Yale University in New Haven, Connecticut. A grant from a second philanthropic foundation, the Kettering Fund, established a site at Case Western Reserve School of Medicine in Cleveland, Ohio in 2005. The UCDC consisted of these eight sites at the time the first study was activated in February 2006. It soon became apparent that the most successful mode of recruitment was by internal referral, i.e. referral to the Longitudinal Study by one of the UCDC investigators. Thus, the UCDC sought to further expand the number of sites and investigators. The O’Malley Family Foundation agreed to fund a site in Zurich, Switzerland which led to the addition of the UCDC’s first international site at the University of Zurich Kinderspital in 2007. That same year, the Hospital for Sick Children in Toronto, which is funded by a Canadian philanthropist, was added to the consortium. In 2008, The O’Malley Family Foundation helped support new UCDC sites at Seattle Children’s Hospital in Washington, Oregon Health & Science University in Portland, The Children’s Hospital of Denver in Colorado, and the Children’s Hospital Boston in Massachusetts, bringing the UCDC to its current fourteen sites. The UCDC is working to activate its 15th site at University of Minnesota in Minneapolis in late 2009, completing geographical coverage of the contiguous United States plus Alaska, Ontario and Switzerland ().
Each Consortium site is led by a principal investigator, who is a board-certified metabolic specialist, with a team consisting of a study coordinator, a neuropsychologist, and at some sites a co-investigator, research fellow, and/or nutritionist. The UCDC also employs several staff members at CNMC for programmatic, grant management, administrative and biostatistical support. The UCDC currently consists of a total of 43 faculty investigators and 26 research staff members. The UCDC’s steering committee is composed of the UCDC directors, the principal investigator from each site, the executive director of the National Urea Cycle Disorders Foundation, the NIH scientific and program officers, the DMCC director, the project manager, and the grant manager ().
Organizational Structure of the Urea Cycle Disorders Consortium
The Urea Cycle Disorders Consortium’s major goals are to: 1) develop better treatments and a deeper scientific understanding of the causes and outcomes of UCD; 2) conduct clinical trials of promising new therapies; 3) develop resources with information on UCD for clinicians, researchers, and patients; and 4) train the next generation of UCD investigators. Other objectives include promoting newborn screening for UCD to aid in identification and treatment of UCD and in establishing a research contact registry for the eight UCD under study.