Liver Disease in Urea Cycle Disorders

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

Stage A

Inclusion Criteria:

* Age \> 6 years and \< 65 years
* Weight ≥ 11 kg at time of screening
* A molecular or biochemical diagnosis of OTCD, ASS1D, ASLD, or ARG1D.

Exclusion Criteria:

* 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

Stage B Inclusion Criteria

• Participation in Stage A of this study

Exclusion Criteria

* 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

Conditions9

Locations5 sites

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