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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.
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
Study Description at National Institutes of Health
THRIVE Study Web Site
Medical Genetics Research
Gerard Vockley, MD, PhD
For more information about the study or enrollment, please contact:
Maggie Hufton, BS
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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