Genetic Epidemiology of Primary Biliary Cirrhosis (PBC)

NCT ID: NCT01161953

Last Updated: 2025-09-29

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

1500 participants

Study Classification

OBSERVATIONAL

Study Start Date

2002-03-31

Study Completion Date

2025-07-31

Brief Summary

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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.

Detailed Description

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Conditions

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Primary Biliary Cirrhosis

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

OTHER

Interventions

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Genetic Analysis

Perform Genome Wide Association Studies.

Intervention Type GENETIC

Eligibility Criteria

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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.
Minimum Eligible Age

18 Years

Maximum Eligible Age

90 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Mayo Clinic

OTHER

Sponsor Role lead

Responsible Party

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Konstantinos N. Lazaridis, M.D.

Hepatology Consultant

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Konstantinos N Lazaridis, M.D.

Role: PRINCIPAL_INVESTIGATOR

Mayo Clinic

Locations

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Mayo Clinic

Rochester, Minnesota, United States

Site Status

Countries

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United States

References

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Lazaridis KN, Juran BD, Boe GM, Slusser JP, de Andrade M, Homburger HA, Ghosh K, Dickson ER, Lindor KD, Petersen GM. Increased prevalence of antimitochondrial antibodies in first-degree relatives of patients with primary biliary cirrhosis. Hepatology. 2007 Sep;46(3):785-92. doi: 10.1002/hep.21749.

Reference Type BACKGROUND
PMID: 17680647 (View on PubMed)

Juran BD, Atkinson EJ, Larson JJ, Schlicht EM, Liu X, Heathcote EJ, Hirschfield GM, Siminovitch KA, Lazaridis KN. Carriage of a tumor necrosis factor polymorphism amplifies the cytotoxic T-lymphocyte antigen 4 attributed risk of primary biliary cirrhosis: evidence for a gene-gene interaction. Hepatology. 2010 Jul;52(1):223-9. doi: 10.1002/hep.23667.

Reference Type BACKGROUND
PMID: 20578265 (View on PubMed)

Juran BD, Atkinson EJ, Larson JJ, Schlicht EM, Lazaridis KN. Common genetic variation and haplotypes of the anion exchanger SLC4A2 in primary biliary cirrhosis. Am J Gastroenterol. 2009 Jun;104(6):1406-11. doi: 10.1038/ajg.2009.103. Epub 2009 Apr 21.

Reference Type BACKGROUND
PMID: 19491853 (View on PubMed)

Juran BD, Atkinson EJ, Schlicht EM, Fridley BL, Petersen GM, Lazaridis KN. Interacting alleles of the coinhibitory immunoreceptor genes cytotoxic T-lymphocyte antigen 4 and programmed cell-death 1 influence risk and features of primary biliary cirrhosis. Hepatology. 2008 Feb;47(2):563-70. doi: 10.1002/hep.22048.

Reference Type BACKGROUND
PMID: 18041714 (View on PubMed)

Juran BD, Atkinson EJ, Schlicht EM, Fridley BL, Lazaridis KN. Primary biliary cirrhosis is associated with a genetic variant in the 3' flanking region of the CTLA4 gene. Gastroenterology. 2008 Oct;135(4):1200-6. doi: 10.1053/j.gastro.2008.06.077. Epub 2008 Jul 1.

Reference Type BACKGROUND
PMID: 18778710 (View on PubMed)

Lammert C, Nguyen DL, Juran BD, Schlicht E, Larson JJ, Atkinson EJ, Lazaridis KN. Questionnaire based assessment of risk factors for primary biliary cirrhosis. Dig Liver Dis. 2013 Jul;45(7):589-94. doi: 10.1016/j.dld.2013.01.028. Epub 2013 Mar 11.

Reference Type BACKGROUND
PMID: 23490343 (View on PubMed)

Lammert C, Juran BD, Schlicht E, Chan LL, Atkinson EJ, de Andrade M, Lazaridis KN. Biochemical response to ursodeoxycholic acid predicts survival in a North American cohort of primary biliary cirrhosis patients. J Gastroenterol. 2014 Oct;49(10):1414-20. doi: 10.1007/s00535-013-0903-1. Epub 2013 Dec 8.

Reference Type BACKGROUND
PMID: 24317935 (View on PubMed)

Lammert C, Juran BD, Schlicht E, Xie X, Atkinson EJ, de Andrade M, Lazaridis KN. Reduced coffee consumption among individuals with primary sclerosing cholangitis but not primary biliary cirrhosis. Clin Gastroenterol Hepatol. 2014 Sep;12(9):1562-8. doi: 10.1016/j.cgh.2013.12.036. Epub 2014 Jan 16.

Reference Type BACKGROUND
PMID: 24440215 (View on PubMed)

Other Identifiers

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670-02 PBC

Identifier Type: -

Identifier Source: org_study_id

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