Progressive Familial Intrahepatic Cholestasis (PFIC) Clinical Trials

Progressive familial intrahepatic cholestasis (PFIC) encompasses rare autosomal recessive disorders causing progressive cholestasis and cirrhosis in infants and children. Three main types are recognized: PFIC1 results from mutations in ATP8B1 affecting a lipid flippase critical for plasma membrane homeostasis; PFIC2 from ABCB11 mutations affecting the bile salt export pump (BSEP), the major transporter mediating bile acid secretion into bile; and PFIC3 from ABCB4 mutations affecting a phospholipid transporter responsible for phospholipid secretion. These molecular defects impair bile formation and secretion, leading to intrahepatic cholestasis with progressive hepatocellular injury, inflammation, and fibrosis.

The most common symptoms of Progressive Familial Intrahepatic Cholestasis include Jaundice and cholestasis in infancy or childhood, Severe pruritus (itching), Hepatosplenomegaly, Failure to thrive, Progressive liver fibrosis and cirrhosis, among others. Progressive Familial Intrahepatic Cholestasis affects approximately 1 in 50,000 to 100,000 people (varies by type and ethnicity). Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Progressive Familial Intrahepatic Cholestasis from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. Treatment advances are dramatically changing outcomes for PFIC, particularly with bile acid-modulating therapies and newer targeted agents. FDA-approved ursodeoxycholic acid has been standard care, and newer agents targeting farnesoid X receptor (FXR) and G protein-coupled bile acid receptor 1 (TGR5) pathways show significant promise in slowing or halting disease progression and improving quality of life.

As of September 2026, Trial Friend's curated drug index does not include an FDA-approved treatment specific to Progressive Familial Intrahepatic Cholestasis. The Treatments section of this page checks FDA drug labels live and lists any approved drug whose label names the condition, and the trials listed below cover the investigational options.

Progressive Familial Intrahepatic Cholestasis is caused by variants in any of many genes, most often ATP8B1, ABCB11, ABCB4, TJP2, NR1H4 and MYO5B. ATP8B1 (PFIC1), ABCB11 (PFIC2) and ABCB4 (PFIC3) cause the three classic forms; more than 10 genes are now known, so a cholestasis panel is standard.

It is inherited in an autosomal recessive pattern: both parents are usually unaffected carriers, and each pregnancy has a 1 in 4 chance of an affected child. The condition affects approximately 1 in 50,000 to 100,000 people (varies by type and ethnicity). A multigene panel identifies the cause in most families.

Yes. Progressive Familial Intrahepatic Cholestasis can be caused by variants in many different genes (ATP8B1, ABCB11, ABCB4, TJP2, NR1H4 and MYO5B are among the most common), so testing is usually a multigene panel or exome sequencing rather than one gene at a time. ATP8B1 (PFIC1), ABCB11 (PFIC2) and ABCB4 (PFIC3) cause the three classic forms; more than 10 genes are now known, so a cholestasis panel is standard.

It is inherited in an autosomal recessive pattern: both parents are usually unaffected carriers, and each pregnancy has a 1 in 4 chance of an affected child.

Knowing the exact gene matters: it decides which trials a patient qualifies for and which relatives should be tested. The labs currently offering the test are listed in the Genetic Testing section of this page, pulled live from the NIH Genetic Testing Registry. A genetic counselor can help interpret the result and decide which relatives should be tested.

Eligibility for Progressive Familial Intrahepatic Cholestasis clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a Progressive Familial Intrahepatic Cholestasis clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.