Understanding the Genetic Predisposition to the Development of Primary Biliary Cirrhosis is an observational study recruiting people with a history of PBC and their family members.
The trial will investigate whether or not there is a genetic factor in the development of PBC. Blood and stool samples will be taken from PBC patients and family members of PBC patients and analyzed. If a genetic component is discovered, it will add to current knowledge of how PBC and other adult chronic cholestatic liver diseases develop, as well as suggest new approaches for prevention, diagnosis, and treatment.
Individuals will be included in the study if they are aged 18-90 years old and have a history of PBC or if they are first-degree relatives of someone with PBC. Patients with PBC who have undergone a liver transplant are not excluded.
The primary outcome measure of the study is the mapping of genes that may make patients susceptible to adult chronic cholestatic liver diseases such as PBC.
The study will be completed in December 2025. About 1,500 people are expected to be included in the final analysis.
Find more information at the study page on Clinicaltrials.gov.
