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Protocol Details

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

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

000494-DK

Sponsoring Institute

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 18 Years
Max Age: 100 Years

Referral Letter Required

No

Population Exclusion(s)

Pregnant Women;
Children

Keywords

Cardiac Hepatopathy;
Natural History

Recruitment Keyword(s)

None

Condition(s)

Congenital Heart Disease

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Diabetes and Digestive and Kidney Diseases

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.

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Eligibility

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

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. Inability to comply or give written informed consent as there is no direct benefit from participation in this study.

13. 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.


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Citations:

Not Provided

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Contacts:

Principal Investigator

Referral Contact

For more information:

Theo Heller, M.D.
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
NIHBC 10 - CLINICAL CENTER BG RM 10N248A
10 CENTER DR
BETHESDA MD 20892
(301) 402-7147
theoh@intra.niddk.nih.gov

Elenita Rivera, R.N.
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
National Institutes of Health
Building 10
Room 8E
10 Center Drive
Bethesda, Maryland 20892
(301) 435-6125
erivera@cc.nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1
ccopr@nih.gov

Clinical Trials Number:

NCT05213598

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