Urea Cycle Disorders – Longitudinal Study
Condition or Therapy:
Urea Cycle Disorders
Genetics; Developemental Medicine
What is the goal of this study?
Individuals with urea cycle disorders (UCD) cannot remove ammonia, a waste product, from the blood. The purpose of this study is to perform a long-term analysis of a large group of individuals with various UCDs. The study will focus on the natural history, disease progression, treatment, and outcome of individuals with UCD. The study hopes to answer the following questions:
- What is the prevalence of specific morbid indicators of disease severity, including hyperammonemia, developmental disabilities, and various long-term renal and hepatic effects, as well as case-fatality associated with the various forms of UCD.
- What is the relationship between various biomarkers and disease severity and progression?
- What is the safety and efficacy of currently used and new UCD therapies?
Who can join the study?
You can join the study if you have been diagnosed with a urea cycle disorder or if your doctor has decided that it is highly likely that you have a urea cycle disorder with a confirmation of the diagnosis pending.
What will happen if my child takes part in this study?
Participants are asked to allow the study team to gather data from the participants medical record in order to compile the relevant data in the study's database. Participants are also asked to answer study specific quality of life questionnaires and attend neuropsychological testing appointments over the course of their lifetime.
Who can I contact for more information?
Please contact our study team at 206-884-1264 or by email.