Ignite Creation Date:
2024-05-05 @ 11:48 AM
Last Modification Date:
2024-10-26 @ 9:14 AM
Study NCT ID:
NCT00145964
Status:
UNKNOWN
Last Update Posted:
2005-11-29
First Post:
2005-09-02
Brief Title:
Identification of the Genetic Variants Responsible for Primary Biliary Cirrhosis PBC
Sponsor:
University Health Network Toronto
Organization:
University Health Network Toronto
Study Overview
Official Title:
Identification of the Genetic Variants Responsible for Primary Biliary Cirrhosis PBC
Status:
UNKNOWN
Status Verified Date:
2005-08
Last Known Status:
RECRUITING
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
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 T1D45 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 Graves 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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None