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Family Studies in Primary Biliary Cirrhosis (PBC)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00242125
Recruitment Status : Unknown
Verified October 2005 by University Health Network, Toronto.
Recruitment status was:  Recruiting
First Posted : October 19, 2005
Last Update Posted : January 16, 2006
Information provided by:
University Health Network, Toronto

Brief Summary:
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.

Condition or disease
Biliary Cirrhosis, Primary

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Study Type : Observational
Enrollment : 3000 participants
Observational Model: Defined Population
Time Perspective: Other
Official Title: Family Studies in Primary Biliary Cirrhosis
Study Start Date : October 2005

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 80 Years   (Adult, Older Adult)
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)

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00242125

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Contact: Catalina Coltescu 416-603-5832

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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
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Principal Investigator: E.J.L. (Jenny) Heathcote, MD UHN - Toronto Western Hospital, University of Toronto
Publications automatically indexed to this study by Identifier (NCT Number):
Layout table for additonal information Identifier: NCT00242125    
Other Study ID Numbers: 05-0630-AE
MOP - 74621
First Posted: October 19, 2005    Key Record Dates
Last Update Posted: January 16, 2006
Last Verified: October 2005
Keywords provided by University Health Network, Toronto:
Primary biliary Cirrhosis
Additional relevant MeSH terms:
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Liver Cirrhosis
Liver Cirrhosis, Biliary
Pathologic Processes
Liver Diseases
Digestive System Diseases
Cholestasis, Intrahepatic
Bile Duct Diseases
Biliary Tract Diseases