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Family Studies in Primary Biliary Cirrhosis (PBC)

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified October 2005 by University Health Network, Toronto.
Recruitment status was:  Recruiting
Information provided by:
University Health Network, Toronto Identifier:
First received: October 18, 2005
Last updated: January 13, 2006
Last verified: October 2005
Primary biliary cirrhosis (PBC) is a chronic liver disease primarily affecting middle age women. It is characterized by immune-mediated damage to cells lining the tiny bile ducts within the liver. Although the underlying cause of PBC is likely to be multifactorial, the epidemiologic/population data indicate a very important role for genetic predisposition, meaning that the disease seems to run in families. Susceptibility genes for PBC have not been identified possibly due to limitations such as small sample size in prior studies. The primary objective of this study is to identify these genes. This study involves obtaining clinical and demographic data as well as collecting DNA samples from patients and their parents, and siblings to screen for a select set of candidate genes as well as the full genome for variants associated with PBC.

Biliary Cirrhosis, Primary

Study Type: Observational
Study Design: Observational Model: Defined Population
Time Perspective: Cross-Sectional
Time Perspective: Prospective
Official Title: Family Studies in Primary Biliary Cirrhosis

Resource links provided by NLM:

Further study details as provided by University Health Network, Toronto:

Estimated Enrollment: 3000
Study Start Date: October 2005
  Show Detailed Description


Ages Eligible for Study:   18 Years to 80 Years   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Patients attending Liver Clinic at Toronto Western Hospital, Toronto, ON, Canada
  • Diagnosis of PBC
  • Liver biopsy
  • Antimitochondrial antibody (AMA) positive
  • Elevated alkaline phosphatase (ALP)
  • Parents and siblings and controls (friends and spouses of propositi)
  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 identifier: NCT00242125

Contact: Catalina Coltescu 416-603-5832

Canada, Ontario
Liver Clinic, Toronto Western Hospital, UHN Recruiting
Toronto, Ontario, Canada, M5T 2S8
Contact: Jenny (E.J.L.) Heathcote, MD    416-603-5914      
Principal Investigator: E.J.L. (Jenny) Heathcote, MD         
Sponsors and Collaborators
University Health Network, Toronto
Principal Investigator: E.J.L. (Jenny) Heathcote, MD UHN - Toronto Western Hospital, University of Toronto
  More Information

Publications automatically indexed to this study by Identifier (NCT Number): Identifier: NCT00242125     History of Changes
Other Study ID Numbers: 05-0630-AE
MOP - 74621
Study First Received: October 18, 2005
Last Updated: January 13, 2006

Keywords provided by University Health Network, Toronto:
Primary biliary Cirrhosis

Additional relevant MeSH terms:
Liver Cirrhosis
Liver Cirrhosis, Biliary
Pathologic Processes
Liver Diseases
Digestive System Diseases
Cholestasis, Intrahepatic
Bile Duct Diseases
Biliary Tract Diseases processed this record on August 18, 2017