Hepatic Histopathology in Urea Cycle Disorders

Baylor College of Medicine70 enrolled

Overview

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.

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 Type

OBSERVATIONAL

Enrollment

Conditions

Urea Cycle Disorder Ornithine Transcarbamylase Deficiency Citrullinemia 1 ARGI Deficiency ASL Deficiency Argininosuccinic Aciduria

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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

Locations (2)

Children's National Medical Center

Washington D.C., District of Columbia, United States

NOT_YET_RECRUITING

Baylor College of Medicine

Houston, Texas, United States

RECRUITING

Outcomes

Primary Outcomes

Hepatic fibrosis

Staging of fibrosis from histopathology report from the liver biopsy or explant

Time frame: Day 1

Steatosis

Grade of steatosis from histopathology report from the liver biopsy or explant

Time frame: Day 1

Hepatic glycogenosis

Presence and type of glycogenosis from histopathology report from the liver biopsy or explant

Time frame: Day 1

Hepatic Histopathology in Urea Cycle Disorders

Overview

Conditions

Eligibility

Locations (2)

Outcomes

Primary Outcomes

Central Contacts