Liver Cirrhosis, BiliaryNCT00145964
Identification of the Genetic Variants Responsible for Primary Biliary Cirrhosis (PBC)
An observational study of Liver Cirrhosis, Biliary and Biliary Cirrhosis, Primary, run by University Health Network, Toronto at 1 site in Canada.
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. Read more about this study
- Who is it for?
- Ages 18 to 85 years
- Conditions the study is for
- Liver Cirrhosis, Biliary, Biliary Cirrhosis, Primary
- How many people
- 500 participants
- Where
- 1 siteCanada
- Study dates
- Aug 2004to not given
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 85 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- patients attending Liver Clinic at Toronto Western Hospital, Toronto, ON, Canada
- AMA positive and liver biopsy proven PBC.
Who cannot join
- AMA negative PBC
Trial locations and contacts
1 site in 1 country.
Catalina Coltescu contact
Canada1 site, 1 recruiting
- Recruiting
Liver Clinic, Toronto Western Hospital, UHN.
Toronto, Ontario, M5T 2S8
Jenny (E.J.L.) Heathcote, MD, 416-603-5914
E. J. L. Heathcote, M.D.
About this study
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.
Read the 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.
- Keywords
- Biliary Cirrhosis, Primary, genes, autoimmune disease
- Medical subject headings
- Liver Cirrhosis, Biliary, Autoimmune Diseases
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Sep 2005 (estimated)
- Study startAug 2004
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Liver Cirrhosis, BiliaryStudies of the same condition, open and under way.
- More trials run by University Health Network, TorontoThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Defined population
- Time perspective
- Other
- Enrolment
- 500 participants
Sponsor and investigators
- Lead sponsor
- University Health Network, Toronto
- Sponsor type
- University, hospital or other
- Investigators
- E.J.L (Jenny) Heathcote, MD, Principal investigator, UHN - Toronto Western Hospital, University of Toronto
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00145964
- Sponsor's protocol ID
- 04-0461-AE
- Status last verified
- Aug 2005
- First submitted
- 2 Sep 2005
- Last updated
- 29 Nov 2005
- Results posted
- No