Alagille Syndrome (ALGS) Clinical Trials and Treatments

Alagille syndrome (ALGS) is an autosomal dominant multi-system disorder caused by mutations in the JAG1 or NOTCH2 genes, which regulate the Notch signaling pathway critical for normal organ development and tissue maintenance throughout life. The hallmark hepatic feature is intrahepatic bile duct hypoplasia, characterized by a decreased number of interlobular bile ducts with progressive obliteration of remaining ducts leading to cholestasis and progressive liver disease. Cardiac involvement occurs in approximately 90% of patients, most commonly manifesting as pulmonary stenosis or other right-sided heart lesions.

The most common symptoms of Alagille Syndrome include Cholestasis and jaundice in infancy, Bile duct hypoplasia and progressive liver disease, Cardiac defects including pulmonary stenosis, Characteristic facial features, Skeletal abnormalities and butterfly vertebrae, among others. Alagille Syndrome affects approximately 1 in 30,000 to 43,000 people. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Alagille Syndrome 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. Clinical trials are actively investigating novel approaches to halt or reverse the bile duct damage and progressive fibrosis characteristic of Alagille syndrome. Current research focuses on modulating the Notch pathway more precisely, improving bile acid metabolism and enterohepatic circulation, and preventing progressive hepatic fibrosis through anti-inflammatory strategies.

Yes. As of October 14, 2026, 2 FDA-approved medicines have a current label that names Alagille Syndrome: Bylvay (odevixibat); and Livmarli (maralixibat chloride). Corticosteroids and immune globulins count once each.

Alagille Syndrome is caused by variants in the JAG1 and NOTCH2 genes. JAG1 variants or deletions account for more than 90% of cases; NOTCH2 is rare. Roughly half of cases are de novo.

It is autosomal dominant, so each child of an affected parent has a 1 in 2 chance of inheriting it. The condition affects approximately 1 in 30,000 to 43,000 people. Genetic testing confirms the diagnosis.

Yes. Genetic testing for Alagille Syndrome looks at the JAG1 and NOTCH2 genes. JAG1 variants or deletions account for more than 90% of cases; NOTCH2 is rare. Roughly half of cases are de novo.

It is autosomal dominant, so each child of an affected parent has a 1 in 2 chance of inheriting it.

A confirmed variant establishes the diagnosis and is often required to enroll in gene-specific trials. 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 Alagille Syndrome 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 Alagille Syndrome 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.