Genetic Epidemiology of Primary Biliary Cirrhosis (PBC)

Primary Biliary Cirrhosis Clinical Trial

Official title:

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

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT01161953
• Other study ID #: 670-02 PBC
• Status: Active, not recruiting
• Start date: March 2002
• Est. completion date: December 2050

Study information

• Verified date: March 2024
• Source: Mayo Clinic
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 1500
• Est. completion date: December 2050
• Est. primary completion date: December 2050
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 90 Years

Eligibility

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.

Related Conditions & MeSH terms

• Fibrosis
• Liver Cirrhosis
• Liver Cirrhosis, Biliary
• Primary Biliary Cirrhosis

Intervention

Genetic:
• Genetic Analysis
Perform Genome Wide Association Studies.

Locations

Country	Name	City	State
United States	Mayo Clinic	Rochester	Minnesota

Sponsors (1)

Lead Sponsor	Collaborator
Mayo Clinic

Country where clinical trial is conducted

United States, 

References & Publications (8)

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. — View Citation

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: — View Citation

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 200 — View Citation

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. — View Citation

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. d — View Citation

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 — View Citation

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. — View Citation

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. 200 — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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.