Saves the questions and what to expect into your notes, next to the visit they belong to.
Keep this study
Lead
University of South Florida
With
National Institutes of Health (NIH)
Participants enrolled in the RDCRN UCDC Contact Registry will receive an email inviting them to participate in the study. Interested participants will be directed to the informed consent document. After agreeing to participate, participants will be directed to the study web portal. The study web portal will be developed and maintained by the Data Management and Coordinating Center at the University of South Florida (USF).
Participants will complete several questionnaires about their urea cycle disorder including diagnosis and treatment information and quality of life.
Age
Any age
Sex
ALL
Healthy volunteers
Not accepted
You may be eligible if
Enrollment in UCDC RDCRN Contact Registry
Patient reported diagnosis of one of the eight UCDs or UCD diagnosis highly likely/pending.
You may not be if
Cases of hyperammonemia caused by an organic acidemia, lysinuric protein intolerance, mitochondrial disorders, congenital lactic acidemia, fatty acid oxidation defects and primary liver disease.
Individuals with rare and unrelated serious comorbidities, e.g., Down syndrome, intraventricular hemorrhage in the newborn period, and extreme low birth weight (\<1,500 grams).
Inability to provide informed consent and complete surveys
