Current Research Studies

Longitudinal Study of Urea Cycle Disorders (Protocol Version Date 6 March 2012)

UCDC Longitudinal Study

What is the goal of the study?

The objective of this protocol is to conduct a longitudinal multidisciplinary investigation of the natural history, morbidity, and mortality in people with UCD. In order to answer research questions, investigators will measure the following primary outcomes: a. Hyperammonemia, developmental disabilities, long-term renal and hepatic effects, and case-fatality associated with the various forms of UCD. b. Correlation between glutamine, ammonia, liver function (biomarkers), severity scale, and IQ in terms of outcome. c. Interim events related to treatments (drugs, diet or liver transplant).

Who can participate in the study?

Please contact the study team listed below to learn more.

Study Team: