Chronic Liver Disease in Urea Cycle Disorders

Status Completed

Clinical Trial Summary

This is a pilot, cross-sectional study to assess liver stiffness and markers of hepatic injury, function, and fibrosis in patients with urea cycle disorders. This study will be conducted at 3 UCDC sites: Baylor College of Medicine in Houston, Texas, University of California San Francisco (UCSF), San Francisco, California and Seattle Children's Hospital, Seattle,Washington

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. Currently, there are no guidelines for monitoring hepatic complications or extent of liver disease in UCDs. The purpose of this study is: 1) To determine whether liver stiffness is higher in individuals with ASS1D, ASLD, and ARG1D as compared to females with OTCD, and to assess liver stiffness in other UCDs (citrin deficiency, NAGSD, CPS1D, and males with OTCD), 2) To test whether markers of hepatocellular injury and function and novel serum biomarker panels for hepatic fibrosis provide evidence of chronic liver disease in individuals with ASS1D, ASLD, and ARG1D as compared to OTCD and to assess these sample markers of hepatocellular injury and function and novel serum biomarker panels for hepatic fibrosis in other UCDs (citrin deficiency, NAGSD, CPS1D, and males with OTCD). ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT03721367
Study type	Observational
Source	Baylor College of Medicine
Contact
Status	Completed
Phase
Start date	November 29, 2017
Completion date	June 1, 2020

View Details

See also
Status	Clinical Trial	Phase
Terminated	`NCT01948427` - Observational Study That Will Collect Information on Patients With Urea Cycle Disorders (UCDs)
Terminated	`NCT03933410` - UNLOCKED: A Phase 2, Open-label Trial With KB195 in Subjects With a Urea Cycle Disorder	Phase 2
Completed	`NCT03064048` - Nitric Oxide Supplementation on Neurocognitive Functions in Patients With ASLD	N/A
Recruiting	`NCT04612764` - Liver Disease in Urea Cycle Disorders
Completed	`NCT05330039` - Characterization of Intestinal Microbiota in Children With Inborn Errors of Metabolism (IEM)
Completed	`NCT03911089` - A Collection of Case Studies in Infants With UCD to Evaluate Infant Growth and the Safety of a New Medical Food for UCD	N/A
Terminated	`NCT03181828` - Manipulating the Gut Microbiome Study	Phase 1/Phase 2
Completed	`NCT00472732` - Neurologic Injuries in Adults With Urea Cycle Disorders	N/A
Recruiting	`NCT05076318` - Dysregulated Urea-synthesis at Terminal Uremia	N/A
Completed	`NCT03179878` - Safety and Tolerability of SYNB1020-CP-001	Phase 1
Recruiting	`NCT04602325` - Systemic Biomarkers of Brain Injury From Hyperammonemia
Withdrawn	`NCT03884959` - A Safety and Efficacy Study of Infusions of HepaStem in Urea Cycle Disorders Pediatric Patients	Phase 2
Recruiting	`NCT04908319` - Hepatic Histopathology in Urea Cycle Disorders
Completed	`NCT03335488` - Study of Glycerol Phenylbutyrate & Sodium Phenylbutyrate in Phenylbutyrate Naïve Patients With Urea Cycle Disorders (UCDs)	Phase 4
Completed	`NCT02246218` - A Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under 2 Years of Age With Urea Cycle Disorders	Phase 4
Completed	`NCT04248062` - Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
Completed	`NCT05706714` - Th1, Th2, Th17 Phenotype in Urea Cycle Disorders
Enrolling by invitation	`NCT03343756` - HepaStem Long-Term Safety Registry