Hepatic Histopathology in Urea Cycle Disorders

Brief Title

Hepatic Histopathology in Urea Cycle Disorders

Official Title

Hepatic Histopathology in Urea Cycle Disorders

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.

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 Type


Primary Outcome

Hepatic fibrosis


Urea Cycle Disorder


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment


Start Date

September 1, 2021

Completion Date

June 30, 2025

Primary Completion Date

June 30, 2025

Eligibility Criteria

        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




N/A - N/A

Accepts Healthy Volunteers



Lindsay Burrage, MD, PhD, 832-822-4183, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID


Responsible Party

Principal Investigator

Study Sponsor

Baylor College of Medicine


 Children's National Research Institute

Study Sponsor

Lindsay Burrage, MD, PhD, Principal Investigator, Baylor College of Medicine

Verification Date

July 2021