NCT03721367

Chronic Liver Disease in Urea Cycle Disorders

Prospective Cross-Sectional Non-invasive Assessment of Chronic Liver Disease in Urea Cycle Disorders

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 28 (actual)
• Sponsor: Baylor College of Medicine · Academic / Other
• Sex: All
• Age: 5 Years – 60 Years
• Healthy volunteers: Not accepted

Summary

This is a pilot, cross-sectional study to assess liver stiffness and markers of hepatic injury, function, and fibrosis in patients with urea cycle disorders. This study will be conducted at 3 UCDC sites: Baylor College of Medicine in Houston, Texas, University of California San Francisco (UCSF), San Francisco, California and Seattle Children's Hospital, Seattle,Washington

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. Currently, there are no guidelines for monitoring hepatic complications or extent of liver disease in UCDs. The purpose of this study is: 1) To determine whether liver stiffness is higher in individuals with ASS1D, ASLD, and ARG1D as compared to females with OTCD, and to assess liver stiffness in other UCDs (citrin deficiency, NAGSD, CPS1D, and males with OTCD), 2) To test whether markers of hepatocellular injury and function and novel serum biomarker panels for hepatic fibrosis provide evidence of chronic liver disease in individuals with ASS1D, ASLD, and ARG1D as compared to OTCD and to assess these sample markers of hepatocellular injury and function and novel serum biomarker panels for hepatic fibrosis in other UCDs (citrin deficiency, NAGSD, CPS1D, and males with OTCD).

Conditions

• Urea Cycle Disorder

Interventions

Type	Name	Description
OTHER	Diagnostic Ultrasound	All individuals will undergo a blood draw for measurement of biomarkers of liver disease and an ultrasound with shear-wave elastography.

Timeline

• Start date: 2017-11-29
• Primary completion: 2020-06-01
• Completion: 2020-06-01
• First posted: 2018-10-26
• Last updated: 2023-02-10
• Results posted: 2023-02-10

Locations

1 site across 1 country: United States