Urea Cycle Disorders Consortium (UCDC)

Urea cycle disorders (UCDs) are rare but devastating genetic conditions. In 2003, the Urea Cycle Disorders Consortium (UCDC) became one of the first members of the RDCRN. Since then, UCDC has flourished into an international network of 16 academic centers in the United States, Canada and Europe that provide state-of-the-art care and conduct cutting-edge clinical research. The UCDC is currently focusing on research on three major studies as well as pilot studies on innovative diagnostics and therapies. The three major protocols include a long-term natural history study of patients with UCDs that has been active since 2006; a project investigating sub-clinical seizures in neonates with hyperammonemia and its impact on the development of epilepsy, neurodevelopment and affect brain function and biochemistry; and an MRI study of liver fibrosis as a complication of UCDs. The consortium also continues to train the next generation of rare diseases researchers, provide education on UCDs to health care professionals and the public in partnership with the National Urea Cycle Disorders Foundation, and work with the pharmaceutical/biotechnology industry to develop and test novel medications and treatments to help improve the lives of those affected by UCDs.

The Urea Cycle Disorders Consortium (UCDC) is part of the Rare Diseases Clinical Research Network (RDCRN), which is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Division of Rare Diseases Research Innovation (DRDRI). UCDC is funded under grant number U54HD061221 as a collaboration between NCATS, the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), and the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). All RDCRN consortia are supported by the network’s Data Management and Coordinating Center (DMCC) (U2CTR002818). Funding support for the DMCC is provided by NCATS and the National Institute of Neurological Disorders and Stroke (NINDS).