RNA phenotyping in primary biliary cholangitis

Summary

Primary biliary cholangitis (PBC) is a chronic liver disease in which the bile ducts inside the liver are injured by the body’s own immune system. PBC can lead to cirrhosis (scarring of the liver). Only two medications – ursodeoxycholic acid (UDCA) and obeticholic acid (OCA) – are licensed for treatment of this condition. In most people with PBC, these medications work well to control the disease and prevent cirrhosis. In some people with PBC, however, these medications fail to control the disease, allowing cirrhosis to occur. New treatments for PBC are required. Before a new treatment can be used, however, it must be tested in a clinical trial. Doing clinical trials is difficult in PBC because it is a rare and slow-moving condition.

We plan to measure gene expression in blood cells from people with poorly controlled PBC compared to those with well controlled PBC. The patients were recalled from the Primary Biliary Cholangitis (PBC) cohort at the Rare Diseases BioResource. This study will help us understand why treatment of PBC is effective in some people but ineffective in others. It will help us identify new ways of treating PBC. Finally, it will help us develop new blood tests that measure how well a treatment has worked, which could be used in both clinical trials and clinical practice.

This study is part of our Rare Diseases RNA Phenotyping Project. Each participating study in the project is included in a collection hosted on our main studies page.