Genetic Epidemiology of Primary Biliary Cirrhosis (PBC)

This study is currently recruiting participants.

See

Contacts and Locations

Verified April 2016 by Konstantinos N. Lazaridis, M.D., Mayo Clinic

Sponsor:

Information provided by (Responsible Party):

Konstantinos N. Lazaridis, M.D., Mayo Clinic

ClinicalTrials.gov Identifier:

NCT01161953

First received: July 12, 2010

Last updated: April 12, 2016

Last verified: April 2016

History of Changes

Purpose

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.

Condition	Intervention	Phase
Primary Biliary Cirrhosis	Genetic: Genetic Analysis	Phase 1


Study Type:	Observational
Study Design:	Observational Model: Family-Based
Official Title:	Understanding the Genetic Predisposition to the Development of Primary Biliary Cirrhosis (PBC).

Resource links provided by NLM:

Genetics Home Reference related topics: North American Indian childhood cirrhosis

MedlinePlus related topics: Cirrhosis

Genetic and Rare Diseases Information Center resources: Primary Biliary Cholangitis

U.S. FDA Resources

Further study details as provided by Konstantinos N. Lazaridis, M.D., Mayo Clinic:

Primary Outcome Measures:

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.

Biospecimen Retention: Samples With DNA

Blood and stool samples are collected.


Estimated Enrollment:	1500
Study Start Date:	March 2002
Estimated Study Completion Date:	December 2025
Estimated Primary Completion Date:	December 2025 (Final data collection date for primary outcome measure)

Intervention Details:

Perform Genome Wide Association Studies.

Eligibility


Ages Eligible for Study:	18 Years to 90 Years (Adult, Senior)
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	No
Sampling Method:	Non-Probability Sample

Study Population

Subjects who are patients at Mayo Clinic and are seen in the department of Gastroenterology and Hepatology are recruited by mail and carry a diagnosis of PBC. Subjects who are not Mayo Clinic patients are encouraged to contact the study coordinator by phone or email to request enrollment.

Criteria

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.

Contacts and Locations

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01161953

Contacts


Contact: Erik M Schlicht C.C.R.P.	507-284-4312	schlicht.erik@mayo.edu

Locations


United States, Minnesota
Mayo Clinic	Recruiting
Rochester, Minnesota, United States, 55901
Contact: Erik M Schlicht, CCRP 507-284-4312 schlicht.erik@mayo.edu
Principal Investigator: Konstantinos N Lazaridis, M.D.

Sponsors and Collaborators

Mayo Clinic

Investigators


Principal Investigator:	Konstantinos N Lazaridis, M.D.	Mayo Clinic

More Information

Publications:

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.

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.

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.

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.

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.

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.

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.

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.


Responsible Party:	Konstantinos N. Lazaridis, M.D., Hepatology Consultant, Mayo Clinic
ClinicalTrials.gov Identifier:	NCT01161953 History of Changes
Other Study ID Numbers:	670-02 PBC
Study First Received:	July 12, 2010
Last Updated:	April 12, 2016
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD:	No

Keywords provided by Konstantinos N. Lazaridis, M.D., Mayo Clinic:


Primary Biliary Cirrhosis PBC Cholestatic Liver Disease

Additional relevant MeSH terms:


Fibrosis Liver Cirrhosis Liver Cirrhosis, Biliary Pathologic Processes Liver Diseases	Digestive System Diseases Cholestasis, Intrahepatic Cholestasis Bile Duct Diseases Biliary Tract Diseases

ClinicalTrials.gov processed this record on July 21, 2017

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