Identification of the Genetic Variants Responsible for Primary Biliary Cirrhosis (PBC)

Liver Cirrhosis, Biliary Clinical Trial

Official title:

Identification of the Genetic Variants Responsible for Primary Biliary Cirrhosis (PBC)

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT00145964
• Other study ID #: 04-0461-AE
• Status: Recruiting
• Phase: N/A
• First received: September 2, 2005
• Last updated: November 28, 2005
• Start date: August 2004

Study information

• Verified date: August 2005
• Source: University Health Network, Toronto
• Contact: Catalina Coltescu
• Phone: 416-603-5832
• Is FDA regulated: No
• Health authority: Canada: Health Canada
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 500
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 18 Years to 85 Years

Eligibility

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

Study Design

Observational Model: Defined Population, Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

• Biliary Cirrhosis, Primary
• Fibrosis
• Liver Cirrhosis
• Liver Cirrhosis, Biliary

Locations

Country	Name	City	State
Canada	Liver Clinic, Toronto Western Hospital, UHN.	Toronto	Ontario

Sponsors (1)

Lead Sponsor	Collaborator
University Health Network, Toronto

Country where clinical trial is conducted

Canada,