Hepatic Histopathology in Urea Cycle Disorders

Status Recruiting

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.

Clinical Trial 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 Design

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

Clinical Trial Details

NCT number	NCT04908319
Study type	Observational
Source	Baylor College of Medicine
Contact	Saima Ali, MSN
Phone	832-822-4183
Email	saima.ali@bcm.edu
Status	Recruiting
Phase
Start date	February 24, 2022
Completion date	June 30, 2025

View Details

See also
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