RecruitingNCT04612764

Liver Disease in Urea Cycle Disorders

Noninvasive Biomarkers of Hepatic Fibrosis in Urea Cycle Disorders

Sponsor

Baylor College of Medicine

Enrollment

62 participants

Start Date

Nov 4, 2021

Study Type

OBSERVATIONAL

Conditions

Urea Cycle Disorder Ornithine Transcarbamylase Deficiency Citrullinemia 1 ARGI Deficiency ASL Deficiency Argininosuccinic Aciduria ASS Deficiency Hyperargininemia

Summary

This is a multi-center, cross-sectional study to assess risk for liver fibrosis and hepatic injury in individuals with urea cycle disorders (UCDs) using serum biomarkers, Fibroscan, and MRE. This study will be conducted at 5 sites of the Urea Cycle Disorders Consortium: Baylor College of Medicine in Houston, TX, Seattle Children's Hospital in Seattle, WA, Children's Hospital Colorado in Aurora, CO, Children's Hospital of Philadelphia in Philadelphia, PA, and Children's National Medical Center in Washington D.C.

Eligibility

Min Age: 6 YearsMax Age: 65 Years

Inclusion Criteria5

Stage A
Age \> 6 years and \< 65 years
Weight ≥ 11 kg at time of screening
A molecular or biochemical diagnosis of OTCD, ASS1D, ASLD, or ARG1D.
• Participation in Stage A of this study

Exclusion Criteria14

Prior liver transplantation
Episode of acute hyperammonemia (≥100 umol/L) in the 30 days prior to enrollment
Confirmed diagnosis of chronic viral hepatitis, autoimmune liver disease, short gut, small bowel syndrome, alcohol liver disease, TPN requirement, or TPN-related cholestatic disease
Adults with BMI ≥ 45 kg/m2
Current pregnancy
Open wound near expected Fibroscan® probe application site
Use of implantable active medical device such as cardiac pacemaker or implantable cardioverter-defibrillator
Individuals with claustrophobia or other inability to complete
Known diagnosis of hemochromatosis
Presence of implants or devices incompatible with MRI
Inability to breath-hold for 20 seconds for the elastography sequence
Current pregnancy
Confirmed diagnosis of chronic viral hepatitis, autoimmune liver disease, short gut, small bowel syndrome, alcohol liver disease, TPN requirement, or TPN-related cholestatic disease
Episode of documented acute hyperammonemia (ammonia ≥ 100 umol/L) in the 30 days prior to scheduled visit for Stage B