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NCT05213598 · National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

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

What this study is about

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.

View original scientific description

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.

Primary outcome measures

To generate understanding of how congestive hepatopathy drives the pathogenesis of cirrhosis in FALD

Time frame: End of Study

Identification of novel biomarkers correlating with disease progression markers in Fontan Associated Liver Disease Develop an understanding of the biological mechanisms and the genetic modifiers of the progression of Fontan Associated Liver Disease

Who can participate

This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.

Inclusion criteria

  • In order to be eligible to participate in this study, an individual must meet all of the following criteria:
  • Male and female subjects \>= 18 years of age.
  • Past surgical history of Fontan procedure.
  • Prior enrollment in the Liver Diseases Branch protocol 91DK0214
  • Underwent cardiac catheterization or transjugular liver biopsy within ten years prior to the date of screening
  • Approved to proceed by the NIH Cardiology Consult
  • 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:
  • Evidence of other forms of liver disease that typically result in cirrhosis.
  • 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).
  • Hepatitis C as defined by the presence of hepatitis C RNA in serum.
  • 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.
  • 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.
  • Bile duct obstruction as suggested by imaging studies done within the previous six months.
  • Active substance abuse, such as alcohol, inhaled or injection drugs within the previous one year (assessed during patient interviews or by patient self-report).
  • 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.
  • Evidence of Cholangiocarcinoma.
  • A documented or otherwise stated severe allergic reaction to contrast.
  • Any other severe condition, which in the opinion of the investigators would impede the patient s participation or compliance in the study.
  • Radiation exposure exceeds 5 rems during the past year.
  • Inability to comply or give written informed consent as there is no direct benefit from participation in this study.
  • 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

  • Bethesda, Maryland

Related conditions & keywords

Congenital Heart DiseaseCardiac HepatopathyNatural History

Frequently asked questions

What is a clinical trial?

A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.

Is it safe to participate?

Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.

Will I be compensated?

Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.

Will I receive a placebo instead of treatment?

When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.

Can I leave a trial if I change my mind?

Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.

How long does a clinical trial last?

Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.

Data: ClinicalTrials.gov · synced May 12, 2026 · Source of record for eligibility and locations

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What participation can include

  • Study-related care provided by the research team
  • Close monitoring by medical professionals
  • Possible compensation for time and travel*
  • The option to withdraw at any time
  • Contributing to medical research that may help future patients

*Compensation varies by study. Confirm details with coordinator.

Typical next steps

  1. 1.Submit this form
  2. 2.Phone screening
  3. 3.In-person assessment if eligible
  4. 4.Begin participation

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Congenital Heart Disease Treatment Options in Bethesda, Maryland

If you're searching for Congenital Heart Disease treatment in Bethesda, participating in a clinical research study may provide access to innovative approaches under expert medical supervision. This study is actively recruiting participants in Bethesda and surrounding areas.

Clinical trials offer participants the opportunity to receive cutting-edge treatments while contributing to medical research that may help future patients with Congenital Heart Disease. All study-related care is provided at no cost to participants.

Local Sites
1 locations in Maryland
Now Enrolling
Up to 100 participants
Quick Start
Screening available now

Why Consider a Clinical Trial for Congenital Heart Disease?

Potential Benefits

  • Access to new treatment approaches before public availability
  • Close monitoring by experienced medical professionals
  • Study-related care provided at no cost
  • Contribute to medical research for Congenital Heart Disease

What to Expect

  • Initial screening to determine eligibility
  • Regular check-ups and monitoring visits
  • Possible compensation for time and travel
  • You can withdraw at any time

Frequently Asked Questions About This Congenital Heart Disease Study

Important Clinical Trial Information

This information is provided for educational purposes and does not constitute medical advice. Clinical trial participation involves potential risks and benefits. Eligibility requirements apply and will be assessed during the screening process.

Study identifier: NCT05213598. For complete study details, visit ClinicalTrials.gov. Always consult with your healthcare provider before making decisions about your medical care or participating in clinical research.