NCT04908319Recruiting

Hepatic Histopathology in Urea Cycle Disorders

Baylor College of Medicine

Start Date

2/24/2022

Completion Date

6/30/2026

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.

Eligibility Criteria

Age Range: No minimum to No maximum

Inclusion Criteria: * Diagnosis of primary urea cycle disorder based on clinical suspicion confirmed by enzyme activity, DNA testing or metabolite analysis. * History of liver transplantation and/or liver biopsy OR * Planned liver transplantation and/or liver biopsy Exclusion Criteria: * Unavailability of histopathology report from the liver biopsy or explant, or unavailability of liver tissue or slides from the biopsy or explant OR * Anticipated inability to obtain pathology report, liver disease, tissue blocks, or pathology slides after liver biopsy or transplantation * Known history of a secondary cause for liver disease such as chronic viral hepatitis, autoimmune liver disease, short gut, small bowel syndrome, alcohol liver disease, or TPN-related cholestatic disease

Interested in This Trial?

Contact the trial locations directly using the information below to learn more about enrollment.

Expressing interest lets you review the study and consent before we connect you with the research site.

Conditions

Urea Cycle DisorderOrnithine Transcarbamylase DeficiencyCitrullinemia 1ARGI DeficiencyASL DeficiencyArgininosuccinic AciduriaASS DeficiencyHyperargininemiaCarbamyl Phosphate Synthetase DeficiencyNAGS Deficiency

Locations

Children's National Medical Center

Washington D.C., District of Columbia 20010

United States

Baylor College of Medicine

Houston, Texas 77030

United States