Hepatic Histopathology in Urea Cycle Disorders

Sponsor

Baylor College of Medicine (Other)

Overall Status

Recruiting

CT.gov ID

NCT04908319

Collaborator

Children's National Research Institute (Other)

Enrollment

Locations

40.1

Anticipated Duration (Months)

Patients Per Site

0.9

Patients Per Site Per Month

Study Details

Study Description

Brief 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.

Condition or Disease	Intervention/Treatment	Phase
Urea Cycle Disorder Ornithine Transcarbamylase Deficiency Citrullinemia 1 ARGI Deficiency ASL Deficiency Argininosuccinic Aciduria ASS Deficiency Hyperargininemia Carbamyl Phosphate Synthetase Deficiency NAGS Deficiency

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.

Study Design

Study Type:

Observational

Anticipated Enrollment :

70 participants

Observational Model:

Cohort

Time Perspective:

Other

Official Title:

Hepatic Histopathology in Urea Cycle Disorders

Actual Study Start Date :

Feb 24, 2022

Anticipated Primary Completion Date :

Jun 30, 2025

Anticipated Study Completion Date :

Jun 30, 2025

Outcome Measures

Primary Outcome Measures

Hepatic fibrosis [Day 1]
Staging of fibrosis from histopathology report from the liver biopsy or explant
Steatosis [Day 1]
Grade of steatosis from histopathology report from the liver biopsy or explant
Hepatic glycogenosis [Day 1]
Presence and type of glycogenosis from histopathology report from the liver biopsy or explant

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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