Natural History of Fontan Associated Liver Disease and the Evaluation of Biomarkers for Disease Severity Assessment
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Summary
Background: In Fontan Associated Liver Disease (FALD), congestion of blood in the liver causes cirrhosis. This condition can cause death. Researchers want to understand what triggers this process and find new treatments for it. Objective: To understand how long-term congestion of blood in the liver causes liver scarring that eventually leads to cirrhosis. Eligibility: People aged 18 and older who are at risk of developing FALD from the Fontan procedure. Design: Participants will be screened with: Medical history Physical exam Blood and urine tests Liver ultrasound. This uses sound waves to take pictures of the body. Participants will have an outpatient visit within 12 weeks after screening. Within 24 weeks later, they will have a 3-day hospital stay. About 2 weeks later, they will have a follow-up visit. Visits will include repeats of the screening tests and: Heart tests Stool collection Questionnaires MRI of the liver. Participants will lie on a bed that slides in and out of the scanner. They will receive a contrast agent injected into a vein. While in the scanner, they will also have an MRCP to view the bile ducts and the pancreatic duct. Fibroscan exam. This is an ultrasound that uses a special probe to look at the toughness of the liver. Upper endoscopy. This uses a thin scope to look inside the upper digestive tract. Liver biopsy. This will be taken through large vein in the neck or through the chest. Just before the biopsy, participants will have pressure measurements inside their liver. For this, a catheter will be inserted into a neck vein and guided into the liver.
Description
Study Description: Up to 100 subjects who completed the Fontan procedure for severe Congenital Heart Disease (CHD) and are at risk for congestive hepatopathy or Fontan Associated Liver Disease (FALD) will be offered inclusion in the study. During the study we will pursue novel biomarkers for disease severity. Objectives: Primary Objective: The goal of this study is to globally investigate a large cohort of FALD subjects to generate an understanding of how congestive hepatopathy drives the pathogenesis of cirrhosis in FALD. We will use our findings to generate novel biomarkers that will ena…
Eligibility
- Age range
- 18–100 years
- Sex
- All
- Healthy volunteers
- No
* INCLUSION CRITERIA: In order to be eligible to participate in this study, an individual must meet all of the following criteria: 1. Male and female subjects \>= 18 years of age. 2. Past surgical history of Fontan procedure. 3. Prior enrollment in the Liver Diseases Branch protocol 91DK0214 4. Underwent cardiac catheterization or transjugular liver biopsy within ten years prior to the date of screening 5. Approved to proceed by the NIH Cardiology Consult 6. Approved to proceed by the NIH Cardiac Pre-anesthesia Consult EXCLUSION CRITERIA: An individual who meets any of the following criter…
Location
- National Institutes of Health Clinical CenterBethesda, Maryland