Urea Cycle Disorder Registry: The THRIVE Study

Long-Term Registry of Patients With Urea Cycle Disorders

Protocol Description

Through this observational study, researchers will be collecting data about patients with urea cycle disorders (UCDs). This rare genetic condition leads to the accumulation of high levels of ammonia in the blood, which can lead to brain damage and other serious problems. The THRIVE study will track long-term outcomes in UCD patients by collecting observational and standard-of-care data. Analysis of the collected information may lead to insights that will help physicians learn more about treating people with the condition.

Eligibility Criteria

Subject to exclusion criteria, the study is accepting patients of both genders and of all ages who have a confirmed diagnosis of UCD.
Males and Females: All ages


With consent, physicians will provide medical history information, lab results and imaging reports about their enrolled patients. Parents/guardians or participants will complete health/quality-of-life questionnaires annually. These can be completed during routine doctor appointments or at home.
Visits: None beyond normal clinical care
Duration: Up to 10 years

Status: Open for enrollment

Source(s) of Support

Horizon Therapeutics

Primary Investigator

Gerard Vockley, MD, PhD

Contact Information

For more information about the study or enrollment, please contact:
Maggie Hufton, BS