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Genetic Epidemiology of Primary Biliary Cirrhosis (PBC)

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

Status
Completed
Phases
Unknown
Study type
Observational
Source
ClinicalTrials.gov
Registry ID
NCT01161953
Enrollment
1500
Registered
2010-07-14
Start date
2002-03-31
Completion date
2025-07-31
Last updated
2025-09-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Primary Biliary Cirrhosis

Keywords

Primary Biliary Cirrhosis, PBC, Cholestatic Liver Disease

Brief summary

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.

Interventions

GENETICGenetic Analysis

Perform Genome Wide Association Studies.

Sponsors

Mayo Clinic
Lead SponsorOTHER

Study design

Observational model
FAMILY_BASED
Time perspective
OTHER

Eligibility

Sex/Gender
ALL
Age
18 Years to 90 Years
Healthy volunteers
No

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.

Design outcomes

Primary

MeasureTime frameDescription
Mapping of Susceptibility Genes in Adult Chronic Cholestatic Liver DiseasesAdult 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.

Countries

United States

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026