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OpenTrials
Completed

NCT Number: NCT01161953

Genetic Epidemiology of Primary Biliary Cirrhosis (PBC)

Primary Biliary Cirrhosis (PBC) is a progressive liver disorder of unknown cause. Current evidence suggests that genes, the genetic material we inherit from our parents, in combination with environmental factors, likely play an important role in the development of PBC.

This study is being done to investigate whether genes make people more likely to develop PBC. Discovery of these proposed genes will help us better understand how PBC developes, and subsequently, to apply new approaches for its prevention, diagnosis and treatment.

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Key information

Conditions

Primary Biliary Cirrhosis Bile Duct Diseases Biliary Tract Diseases Cholestasis Cholestasis, Intrahepatic Digestive System Diseases Fibrosis Liver Cirrhosis Liver Cirrhosis, Biliary Liver Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms

Age range

18 year–90 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Mayo Clinic

Rochester, Minnesota, 55901, United States

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Men and women between the ages of 18-90 who have a history of PBC.
  • PBC patients who have undergone a liver transplant are eligible.
  • Family members (1st degree relatives) of enrolled PBC patients are eligible.

Exclusion criteria

  • Individuals with no history of PBC or those unable to provide consent.

Treatment and study plan

Genetic analysis

Genetic

Perform Genome Wide Association Studies.

Primary outcomes

  1. Mapping of Susceptibility Genes in Adult Chronic Cholestatic Liver Diseases

    Adult chronic cholestatic liver diseases, such as Primary Biliary Cirrhosis (PBC), are progressive liver disorders of unknown cause. Current evidence suggests that genes, the genetic material we inherit from our parents, in combination with environmental factors, likely play an important role in the development of PBC.

    This study is being done to investigate whether genes (the inherited genetic material passed from parents to their children) make people more likely to develop PBC. Discovery of these proposed genes will help us to better understand how PBC progresses, and subsequently, to apply new approaches for its prevention, diagnosis and treatment.

Sponsors and collaborators

Lead sponsor

Mayo Clinic

Other

Registry information

Official study title

Understanding the Genetic Predisposition to the Development of Primary Biliary Cirrhosis (PBC).

Important dates

Study start
2002
Primary completion
2025
Study completion
2025
First posted
Jul 14, 2010
Registry last updated
Sep 29, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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