Liver Disease in Urea Cycle Disorders

Description

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.

Conditions

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

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Study Overview

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Study Details

Study overview

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.

Noninvasive Biomarkers of Hepatic Fibrosis in Urea Cycle Disorders

Liver Disease in Urea Cycle Disorders

Condition
Urea Cycle Disorder
Intervention / Treatment

-

Contacts and Locations

Aurora

Children's Hospital Colorado, Aurora, Colorado, United States, 80045

Washington

Children's National Medical Center, Washington, District of Columbia, United States, 20010

Philadelphia

The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States, 19104

Houston

Baylor College of Medicine, Houston, Texas, United States, 77030

Seattle

Seattle Children's Hospital, Seattle, Washington, United States, 98105

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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.
  • * 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

Ages Eligible for Study

6 Years to 65 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Baylor College of Medicine,

Lindsay Burrage, MD, PhD, PRINCIPAL_INVESTIGATOR, Baylor College of Medicine

Study Record Dates

2024-12-31