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
- Are there results?
- None posted in the registry
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
Study at a glance
From the registry record, last updated by the sponsor on 29 Nov 2005. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of the Genetic Variants Responsible for Primary Biliary Cirrhosis (PBC)
- ClinicalTrials.gov ID
- NCT00145964
- Acronym / sponsor ID
- 04-0461-AE
- Keywords
- Biliary Cirrhosis, Primary, genes, autoimmune disease
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 500 participants
- Lead sponsor
- University Health Network, TorontoUniversity, hospital or other
- Study start
- Aug 2004
- First posted
- 5 Sep 2005 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 (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 design
- Observational model
- Defined population
- Time perspective
- Other
Who may qualify
- Ages
- 18 to 85 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (2 listed)
- patients attending Liver Clinic at Toronto Western Hospital, Toronto, ON, Canada
- AMA positive and liver biopsy proven PBC.
Key exclusion criteria (1 listed)
- AMA negative PBC
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Nov 2005.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Catalina Coltescu contact
E.J.L (Jenny) Heathcote, MD principal investigator
UHN - Toronto Western Hospital, University of Toronto
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Liver Cirrhosis, Biliary and Biliary Cirrhosis, Primary, run by University Health Network, Toronto at 1 site in Canada.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 29 Nov 2005. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Catalina Coltescu (416-603-5832), or a site near the patient. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Nov 2005.