Chronic Liver Disease in Urea Cycle Disorders

Urea Cycle Disorder Clinical Trial

Official title:

Prospective Cross-Sectional Non-invasive Assessment of Chronic Liver Disease in Urea Cycle Disorders

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03721367
• Other study ID #: H-40988
• Secondary ID: UCDC 5118
• Status: Completed
• Start date: November 29, 2017
• Est. completion date: June 1, 2020

Study information

• Verified date: February 2023
• Source: Baylor College of Medicine
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

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

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).

Recruitment information / eligibility

• Status: Completed
• Enrollment: 28
• Est. completion date: June 1, 2020
• Est. primary completion date: June 1, 2020
• Accepts healthy volunteers: No
• Gender: All
• Age group: 5 Years to 60 Years

Eligibility

Inclusion Criteria:

1. Age > 5 years and < 60 years

2. Weight = 11 kg

3. Males or females with a diagnosis of OTCD based on molecular or enzymatic testing. Males or females with a diagnosis of CPS1D, citrin deficiency, NAGSD, ASS1D, ASLD or ARG1D based on biochemical OR molecular, OR enzymatic testing

Exclusion Criteria:

1. History of hyperammonemia (blood ammonia greater than 100 micromoles/L) documented in the medical record or reported by the patient in the 30 days preceding enrollment visit

2. History of Liver transplantation

3. Current pregnancy

4. Confirmed diagnosis of chronic viral hepatitis, autoimmune liver disease, or alcohol liver disease

Related Conditions & MeSH terms

• Liver Diseases
• Urea Cycle Disorder
• Urea Cycle Disorders, Inborn

Intervention

Other:
• Diagnostic Ultrasound
All individuals will undergo a blood draw for measurement of biomarkers of liver disease and an ultrasound with shear-wave elastography.

Locations

Country	Name	City	State
United States	Baylor College of Medicine	Houston	Texas

Sponsors (3)

Lead Sponsor	Collaborator
Baylor College of Medicine	Seattle Children's Hospital, University of California, San Francisco

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Liver Stiffness as Measured by Shear Wave Elastography	Shear wave elastography in m/s is a measure of liver stiffness, a surrogate measure for hepatic fibrosis. Normal liverstiffness is < 1.35 m/s and abnormal liver stiffness is >1.35 m/s	One measurement made on the day of study visit
Primary	Grey Scale Ultrasound Findings	Grey scale ultrasound findings	Baseline, once
Secondary	Fibrotest	Fibrotest is a blood test that is a surrogate measure for hepatic fibrosis. F0 is normal. >F0 predicts at least minimal fibrosis.	Baseline, once