Primary Biliary CirrhosisNCT01161953
Genetic Epidemiology of Primary Biliary Cirrhosis (PBC)
An observational study of Primary Biliary Cirrhosis, run by Mayo Clinic at 1 site in United States.
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. Read more about this study
- Who is it for?
- Ages 18 to 90 years
- Conditions the study is for
- Primary Biliary Cirrhosis
- What is being tested?
- Genetic Analysis
- How many people
- 1,500 participants
- Where
- 1 siteUnited States
- Study dates
- Mar 2002to 31 Jul 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 90 years
- All sexes
- No healthy volunteers
- Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- Individuals with no history of PBC or those unable to provide consent.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Understanding the Genetic Predisposition to the Development 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.
- Conditions
- Primary Biliary Cirrhosis
- Being tested
- Genetic Analysis
- Keywords
- Primary Biliary Cirrhosis, PBC, Cholestatic Liver Disease
- Medical subject headings
- Liver Cirrhosis, Biliary
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic AnalysisGenetic
Perform Genome Wide Association Studies.
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Jul 2010 (estimated)
- Study startMar 2002
- Primary completion31 Jul 2025
- Study completion31 Jul 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (8)Papers the sponsor has linked to this study.
- Other trials for Primary Biliary CirrhosisStudies of the same condition, open and under way.
- More trials run by Mayo ClinicThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Other
- Enrolment
- 1,500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Mayo Clinic
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Konstantinos N. Lazaridis, M.D., Mayo Clinic
- Investigators
- Konstantinos N Lazaridis, M.D., Principal investigator, Mayo Clinic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01161953
- Sponsor's protocol ID
- 670-02 PBC
- Status last verified
- Sep 2025
- First submitted
- 12 Jul 2010
- Last updated
- 29 Sep 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
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. doi: 10.1002/hep.21749.
PubMed 17680647Juran 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.
PubMed 20578265Juran 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.
PubMed 19491853Juran 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.
PubMed 18041714Juran 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.
PubMed 18778710Lammert 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.
PubMed 23490343Lammert 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.
PubMed 24317935Lammert 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.
PubMed 24440215
Study at a glance
From the registry record, last updated by the sponsor on 29 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Understanding the Genetic Predisposition to the Development of Primary Biliary Cirrhosis (PBC).
- ClinicalTrials.gov ID
- NCT01161953
- Acronym / sponsor ID
- 670-02 PBC
- Conditions
- Primary Biliary Cirrhosis
- Keywords
- Primary Biliary Cirrhosis, PBC, Cholestatic Liver Disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 1,500 participants (estimated)
- Lead sponsor
- Mayo ClinicUniversity, hospital or other
- Study start
- Mar 2002
- Primary completion
- 31 Jul 2025 (actual)
- Study completion
- 31 Jul 2025 (actual)
- First posted
- 14 Jul 2010 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Family based
- Time perspective
- Other
Who may qualify
- Ages
- 18 to 90 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (1 listed)
- Individuals with no history of PBC or those unable to provide consent.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Genetic AnalysisPerform Genome Wide Association Studies. | Genetic | – |
Primary outcome
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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Sep 2025.
- Results publication: PubMed 17680647Lazaridis 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.
- Results publication: PubMed 20578265Juran 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.
- Results publication: PubMed 19491853Juran 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.
- Results publication: PubMed 18041714Juran 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.
- Results publication: PubMed 18778710Juran 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.
- Results publication: PubMed 23490343Lammert 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.
- Results publication: PubMed 24317935Lammert 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.
- Results publication: PubMed 24440215Lammert 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Konstantinos N Lazaridis, M.D. principal investigator
Mayo Clinic
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Primary Biliary Cirrhosis, run by Mayo Clinic at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 29 Sep 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Mapping of Susceptibility Genes in Adult Chronic Cholestatic Liver Diseases. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01161953, which also lists 8 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Sep 2025.