Hepatic Histopathology in Urea Cycle Disorders

NCT04908319 | Recruiting

• 1 other identifier: H-51257
• Study Type: observational
• Target: 70
• Locations: 1 country
• Sites: 2

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.

Conditions

Urea Cycle Disorder; Ornithine Transcarbamylase Deficiency; Citrullinemia 1; ARGI Deficiency; ASL Deficiency; Argininosuccinic Aciduria; ASS Deficiency; Hyperargininemia; Carbamyl Phosphate Synthetase Deficiency; NAGS Deficiency

Keywords

Liver transplant; Liver disease; Liver biopsy; Histopathology

Outcome Measures

Primary Outcomes (3)

• Hepatic fibrosis

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

  Day 1

• Steatosis

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

  Day 1

• Hepatic glycogenosis

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

  Day 1

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals with urea cycle disorders

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Baylor College of Medicine: lead
• Children's National Research Institute: collaborator

Study Sites (2)

Children's National Medical Center

Washington D.C., District of Columbia, 20010, United States

NOT YET RECRUITING

Baylor College of Medicine

Houston, Texas, 77030, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITHOUT DNA

Frozen liver samples, liver histology blocks/slides

MeSH Terms

Conditions

Urea Cycle Disorders, Inborn; Ornithine Carbamoyltransferase Deficiency Disease; Citrullinemia; Hyperargininemia; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthase I Deficiency Disease; N-acetyl glutamate synthetase deficiency; Liver Diseases

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Genetic Diseases, X-Linked; Mitochondrial Diseases; Digestive System Diseases

Study Officials

• Lindsay Burrage, MD, PhD

  Baylor College of Medicine

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Saima Ali, MSN

CONTACT

832-822-4183; saima.ali@bcm.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: May 26, 2021
• First Posted: June 1, 2021
• Study Start: February 24, 2022
• Primary Completion (Estimated): June 30, 2026
• Study Completion (Estimated): June 30, 2026
• Last Updated: July 20, 2025

Record last verified: 2025-07

Locations

US (2)