Hepatic Histopathology in Urea Cycle Disorders

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.

Recruiting

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Key information

Conditions

Urea Cycle Disorder ARGI Deficiency ASL Deficiency ASS Deficiency Amino Acid Metabolism, Inborn Errors Argininosuccinic Aciduria Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbamoyl-Phosphate Synthase I Deficiency Disease Carbamyl Phosphate Synthetase Deficiency Central Nervous System Diseases Citrullinemia Citrullinemia 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Digestive System Diseases Genetic Diseases, Inborn Genetic Diseases, X-Linked Hyperargininemia Liver Diseases Metabolic Diseases Metabolism, Inborn Errors Mitochondrial Diseases N-acetyl glutamate synthetase deficiency NAGS Deficiency Nervous System Diseases Nutritional and Metabolic Diseases Ornithine Carbamoyltransferase Deficiency Disease Ornithine Transcarbamylase Deficiency Urea Cycle Disorders, Inborn

Sex eligibility

All sexes

Study type

Observational

Primary location

Children's National Medical Center, Washington D.C., District of Columbia, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

Hepatic fibrosis

Time frame: Day 1

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

Time frame: Day 1

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

Time frame: Day 1

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

Study contacts

Contact information is provided by the study sponsor or research team.

Saima Ali, MSN

CONTACT

[email protected]

832-822-4183

Sponsors and collaborators

Lead sponsor

Baylor College of Medicine

Other

Collaborators

Children's National Research Institute

Registry information

Important dates

Study start: 2022
Primary completion: 2026
Study completion: 2026
First posted: Jun 1, 2021
Registry last updated: Jul 20, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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