Understanding liver disease in patients with congenital heart disease

Natural History of Fontan Associated Liver Disease and the Evaluation of Biomarkers for Disease Severity Assessment

This study is trying to understand liver problems in people who have had heart surgery for congenital heart disease to see how it affects their health over time.

Quick facts

• Study type: Observational
• Enrollment: 100 (estimated)
• Ages: 18 Years to 100 Years
• Sex: All
• Sponsor: National Institutes of Health Clinical Center (CC) (NIH)
• Drugs / interventions: Radiation
• Locations: 1 site (Bethesda, Maryland)
• Trial ID: NCT05213598 on ClinicalTrials.gov

What this trial studies

This observational study aims to investigate Fontan Associated Liver Disease (FALD) in individuals who have undergone the Fontan procedure for congenital heart disease. Researchers will assess the long-term effects of blood congestion in the liver, which can lead to cirrhosis, by screening participants through medical history, physical exams, and various tests including blood work and liver ultrasounds. The study will also explore novel biomarkers that could help in assessing disease severity and improving treatment decisions for affected patients.

Who should consider this trial

Good fit: Ideal candidates are adults aged 18 and older who have undergone the Fontan procedure and are at risk for developing FALD.

Not a fit: Patients with other forms of liver disease or active hepatitis infections may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to better monitoring and treatment options for patients suffering from Fontan Associated Liver Disease.

How similar studies have performed: While studies on liver disease in congenital heart patients exist, this specific approach focusing on biomarkers in FALD is relatively novel.

Eligibility criteria

* 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 criteria will be excluded from participation in this study:

1. Evidence of other forms of liver disease that typically result in cirrhosis.
2. Evidence of active Chronic Hepatitis B infection as defined by the presence of hepatitis B surface antigen (HBsAg) in serum and elevated HBV DNA (\>10,000 IU/mL).
3. Hepatitis C as defined by the presence of hepatitis C RNA in serum.
4. Evidence of other liver disease such as primary sclerosing cholangitis, primary biliary cirrhosis, Wilson s disease, autoimmune hepatitis as defined by either liver histology or laboratory abnormalities.
5. Hemochromatosis as defined by presence of 3+ or 4+ stainable iron on liver biopsy or homozygosity for C282Y. Patients with iron saturation indices of \>45% and serum ferritin levels of \>300 ng/ml for men and \>250 ng/ml for women will undergo genetic testing for hemochromatosis.
6. Bile duct obstruction as suggested by imaging studies done within the previous six months.
7. Active substance abuse, such as alcohol, inhaled or injection drugs within the previous one year (assessed during patient interviews or by patient self-report).
8. Evidence of hepatocellular carcinoma; either alpha-fetoprotein (AFP) levels greater than 50 ng/ml (normal \<6.6 ng/ml) and/or ultrasound (or other imaging study) demonstrating a mass suggestive of liver cancer.
9. Evidence of Cholangiocarcinoma.
10. A documented or otherwise stated severe allergic reaction to contrast.
11. Any other severe condition, which in the opinion of the investigators would impede the patient s participation or compliance in the study.
12. Radiation exposure exceeds 5 rems during the past year.
13. Inability to comply or give written informed consent as there is no direct benefit from participation in this study.
14. Female subjects who are currently pregnant will be excluded due to radiation exposure necessary for study completion. In addition, altered hemodynamics may confound the study s results. Following pregnancy, patients may be reconsidered for the study.

Where this trial is running

Bethesda, Maryland

• National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)

Study contacts

• Principal investigator: Theo Heller, M.D. — National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
• Study coordinator: Elenita M Rivera, R.N.

Conditions Congenital Heart Disease; Cardiac Hepatopathy; Natural History