Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment
Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment
The purpose of this study is to determine if patients participating in "The Longitudinal
 Study of Urea Cycle Disorders" are different than participants in the Urea Cycles Disorders
 Consortium (UCDC) Rare Diseases Clinical Research Network (RDCRN) Contact Registry and to
 determine if patients are a good source of medical information.
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.
Inclusion Criteria:

 -  Enrollment in UCDC RDCRN Contact Registry

 -  Patient reported diagnosis of one of the eight UCDs or UCD diagnosis highly
 likely/pending.

 Exclusion Criteria:

 -  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