Chronic Liver Disease in Urea Cycle Disorders

• Sponsor: Baylor College of Medicine (Other)
• Overall Status: Completed
• CT.gov ID: NCT03721367
• Collaborator: Seattle Children's Hospital (Other), University of California, San Francisco (Other)
• Enrollment: 28
• Location: 1
• Actual Duration (Months): 30.1
• Patients Per Site Per Month: 0.9

Study Details

Study Description

Brief 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

Condition or Disease	Intervention/Treatment	Phase
Urea Cycle Disorder	Other: Diagnostic Ultrasound

Detailed 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

• Study Type: Observational
• Actual Enrollment: 28 participants
• Observational Model: Other
• Time Perspective: Cross-Sectional
• Official Title: Prospective Cross-Sectional Non-invasive Assessment of Chronic Liver Disease in Urea Cycle Disorders
• Actual Study Start Date: Nov 29, 2017
• Actual Primary Completion Date: Jun 1, 2020
• Actual Study Completion Date: Jun 1, 2020

Arms and Interventions

Arm	Intervention/Treatment
Urea Cycle Disorders	Other: Diagnostic Ultrasound; All individuals will undergo a blood draw for measurement of biomarkers of liver disease and an ultrasound with shear-wave elastography.

Outcome Measures

Primary Outcome Measures

1. Liver shear wave velocity in m/s as measured by shear wave elastography [One measurement made on the day of study visit]

Eligibility Criteria

Criteria

• Ages Eligible for Study: 5 Years to 60 Years
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Baylor College of Medicine	Houston	Texas	United States	77030

Sponsors and Collaborators

• Baylor College of Medicine
• Seattle Children's Hospital
• University of California, San Francisco

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• Responsible Party: Lindsay Burrage, Assistant Professor, Baylor College of Medicine
• ClinicalTrials.gov Identifier: NCT03721367
• Other Study ID Numbers: H-40988; UCDC 5118
• First Posted: Oct 26, 2018
• Last Update Posted: Jul 8, 2020
• Last Verified: Jul 1, 2020

• Individual Participant Data (IPD) Sharing Statement: No
• Plan to Share IPD: No
• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No
• Additional relevant MeSH terms: Liver Diseases; Urea Cycle Disorders, Inborn

Study Results

No Results Posted as of Jul 8, 2020