Identification of the Genetic Variants Responsible for 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: NCT00145964
Recruitment Status : Unknown
Verified August 2005 by University Health Network, Toronto.
Recruitment status was:  Recruiting
First Posted : September 5, 2005
Last Update Posted : November 29, 2005
Information provided by:
University Health Network, Toronto

Brief Summary:
Primary biliary cirrhosis (PBC) is a disease of the liver, which predominantly affects women. It causes slowly progressive liver disease, which eventually causes liver failure, requiring a liver transplant. Several different studies of large patient cohorts indicate that the cause of this disease is likely due to a combination of factors including genetic and environmental. PBC is associated with several other "autoimmune diseases" - recently a gene has been identified to be abnormal in individuals with another autoimmune liver disease, namely rheumatoid arthritis. This gene usually tells the body when to switch off an immune response. This study plans to identify whether individuals diagnosed with PBC have a similar abnormality in this gene called protein Tyrosine Phosphatase.

Condition or disease
Liver Cirrhosis, Biliary Biliary Cirrhosis, Primary

Detailed Description:
Very recently, a single nucleotide polymorphism (SNP) in the PTPN22 gene encoding the Lyp (lymphoid-specific phosphatase) PTP has been shown to be associated with susceptibility to rheumatoid arthritis (RA) and Type 1 diabetes (T1D)4,5. These data are consistent with the known role for Lyp in suppressing T cell activation and with data showing T cell activation (and potentially autoreactivity) to be increased by the RA and T1D-associated PTPN22 variant. The PTPN22 risk allele has also been recently implicated in Grave’s disease and as such appears to represent a susceptibility allele for many autoimmune diseases. As a number of these conditions (RA, T1D etc.) frequently occur within members of PBC families, this PTPN22 variant is very likely to also be involved in PBC, a possibility we will directly investigate in this pilot study. The aim of this study is to analyze the frequency of a specific PTPN22 polymorphism in patients with PBC.

Study Type : Observational
Enrollment : 500 participants
Observational Model: Defined Population
Time Perspective: Cross-Sectional
Time Perspective: Prospective
Official Title: Identification of the Genetic Variants Responsible for Primary Biliary Cirrhosis (PBC)
Study Start Date : August 2004

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 85 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
  • AMA positive and liver biopsy proven PBC.

Exclusion Criteria:

- AMA negative PBC

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): NCT00145964

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. Heathcote, M.D.         
Sponsors and Collaborators
University Health Network, Toronto
Principal Investigator: E.J.L (Jenny) Heathcote, MD UHN - Toronto Western Hospital, University of Toronto Identifier: NCT00145964     History of Changes
Other Study ID Numbers: 04-0461-AE
First Posted: September 5, 2005    Key Record Dates
Last Update Posted: November 29, 2005
Last Verified: August 2005

Keywords provided by University Health Network, Toronto:
Biliary Cirrhosis, Primary
autoimmune disease

Additional relevant MeSH terms:
Liver Cirrhosis
Liver Cirrhosis, Biliary
Pathologic Processes
Liver Diseases
Digestive System Diseases
Cholestasis, Intrahepatic
Bile Duct Diseases
Biliary Tract Diseases