The Children's Research Institute
Rare Diseases Clinical Research Center RDCRC Urea Cycle Disorders Consortium UCDC
The Rare Diseases Clinical Research Center (RDCRC) on Urea Cycle Disorders (UCDC), originally funded by the National Institutes of Health in 2003, consists of 15 U.S. and two international sites and involves more than 50 investigators and staff. The Consortium's focus is urea cycle disorders (UCD), a group of rare but devastating inborn errors of metabolism that carry a high mortality and morbidity in childhood. The core study is a longitudinal natural history study that investigates morbidity, mortality, and biomarkers in over 500 children and adults with UCD in sites across the U.S., Canada, and Europe to; performing Phase II trials of novel drugs to improve ureageneis in affected patients, and assessing neural mechanisms of injury using innovative neuroimaging and neuropsychological testing procedures.
Faculty members of the Urea Cycle Consortium: