Study of Liver Tissue Changes in People With Urea Cycle Disorders Including Those With Liver Biopsy or Transplant History

What this Trial Is About

Urea cycle disorders UCDs are common inherited liver metabolism conditions. Improved diagnosis and treatments have increased survival rates, revealing some long-term liver complications like dysfunction and fibrosis in some patients. These liver issues vary depending on the specific metabolic defect causing the disorder. The study aims to better understand these complications by examining liver tissue samples from individuals diagnosed with any UCD. This research involves reviewing past medical records and prospectively collecting liver tissue samples from patients with confirmed UCD diagnoses. It includes individuals who have had or are planning to have liver biopsies or transplants. This observational study is conducted across multiple centers within the Urea Cycle Disorders Consortium, including Baylor College of Medicine and Childrens National Medical Center. Participants liver samples will be evaluated for fibrosis, fat accumulation steatosis, and glycogen buildup hepatic glycogenosis. Researchers will analyze histopathology reports, biopsy slides, and tissue blocks to identify these outcomes. The study collects data retrospectively and prospectively, tracking histological changes to better understand liver complications in UCD. Participation involves no interventions and focuses on reviewing existing and new liver tissue findings until study completion in June 2026.

Hepatic Histopathology in Urea Cycle Disorders