NCT04908319

Hepatic Histopathology in Urea Cycle Disorders

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 70 (estimated)
• Sponsor: Baylor College of Medicine · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

This is a multi-site, retrospective chart review as well as a prospective study to evaluate histopathologic findings in liver samples from individuals with any UCD diagnosis. This study will be conducted at all Urea Cycle Disorders Consortium (UCDC) sites: Baylor College of Medicine in Houston, TX and Children's National Medical Center in Washington D.C.

Detailed description

Urea cycle disorders (UCDs) are among the most common inborn errors of liver metabolism. With early diagnosis and improved treatments, the survival of individuals with UCDs has improved, and this improved survival has led to unmasking of some long-term complications such as hepatic dysfunction and progressive fibrosis in a subset of patients. Hepatic complications in UCDs are quite variable and dependent upon the specific metabolic defect.

Conditions

• Urea Cycle Disorder
• Ornithine Transcarbamylase Deficiency
• Citrullinemia 1
• ARGI Deficiency
• ASL Deficiency
• Argininosuccinic Aciduria
• ASS Deficiency
• Hyperargininemia
• Carbamyl Phosphate Synthetase Deficiency
• NAGS Deficiency

Timeline

• Start date: 2022-02-24
• Primary completion: 2026-06-30
• Completion: 2026-06-30
• First posted: 2021-06-01
• Last updated: 2025-07-20

Locations

2 sites across 1 country: United States