This research project is in progress. PCORI will post the research findings on this page within 90 days after the results are final.
What is the research about?
Urea cycle disorders are rare conditions in which the body can’t break down proteins properly. As a result, ammonia builds up in the bloodstream, which can lead to brain damage, disability, or death. Urea cycle disorders can occur in children or adults.
One way to treat urea cycle disorders is with a liver transplant. Another way is a low-protein diet and medicine that helps the body break down ammonia. Researchers want to find out whether there are differences between these two treatment options in terms of patients’ quality of life. They want to know if children with urea cycle disorder perform better in school with one treatment or the other. They also want to know how often patients die or become sicker with each treatment.
Who can this research help?
Results from this research can help doctors, patients, and parents of children with urea cycle disorders who are deciding how to treat the condition.
What is the research team doing?
The research team is studying information from 321 patients in two groups: a registry of children who had liver transplants, and patients at 14 clinics that treat urea cycle disorders. The team is using this information to see if there are differences in outcomes between patients who have a specific treatment. They are looking at how long patients live with the condition, scores on intelligence tests, decision-making ability, and quality of life.
In addition, the research team is holding interviews and focus groups with patients, families, and patients’ doctors to learn what factors affect treatment decisions. Patients and families from the National Urea Cycle Disorders Foundation worked with the research team to design the study.
Research methods at a glance
^Mendel Tuchman, MD, was the original Principal Investigator on this project.