Hepatic Histopathology in Urea Cycle Disorders

Urea Cycle Disorder Clinical Trial

Official title:

Hepatic Histopathology in Urea Cycle Disorders

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04908319
• Other study ID #: H-51257
• Status: Recruiting
• Start date: February 24, 2022
• Est. completion date: June 30, 2025

Study information

• Verified date: May 2023
• Source: Baylor College of Medicine
• Contact: Saima Ali, MSN
• Phone: 832-822-4183
• Email: saima.ali[@]bcm.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 70
• Est. completion date: June 30, 2025
• Est. primary completion date: June 30, 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• ARGI Deficiency
• Argininosuccinic Aciduria
• ASL Deficiency
• ASS Deficiency
• Carbamoyl-Phosphate Synthase I Deficiency Disease
• Carbamyl Phosphate Synthetase Deficiency
• Citrullinemia
• Citrullinemia 1
• Hyperargininemia
• Ornithine Transcarbamylase Deficiency
• Urea Cycle Disorder
• Urea Cycle Disorders, Inborn

Locations

Country	Name	City	State
United States	Texas Children's Hospital	Houston	Texas
United States	Children's National Medical Center	Washington	District of Columbia

Sponsors (2)

Lead Sponsor	Collaborator
Baylor College of Medicine	Children's National Research Institute

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Hepatic fibrosis	Staging of fibrosis from histopathology report from the liver biopsy or explant	Day 1
Primary	Steatosis	Grade of steatosis from histopathology report from the liver biopsy or explant	Day 1
Primary	Hepatic glycogenosis	Presence and type of glycogenosis from histopathology report from the liver biopsy or explant	Day 1