NCT00242125

Brief Summary

Primary biliary cirrhosis (PBC) is a chronic liver disease primarily affecting middle age women. It is characterized by immune-mediated damage to cells lining the tiny bile ducts within the liver. Although the underlying cause of PBC is likely to be multifactorial, the epidemiologic/population data indicate a very important role for genetic predisposition, meaning that the disease seems to run in families. Susceptibility genes for PBC have not been identified possibly due to limitations such as small sample size in prior studies. The primary objective of this study is to identify these genes. This study involves obtaining clinical and demographic data as well as collecting DNA samples from patients and their parents, and siblings to screen for a select set of candidate genes as well as the full genome for variants associated with PBC.

Trial Health

55
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
3,000

participants targeted

Target at P75+ for all trials

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

October 1, 2005

Completed
17 days until next milestone

First Submitted

Initial submission to the registry

October 18, 2005

Completed
1 day until next milestone

First Posted

Study publicly available on registry

October 19, 2005

Completed
Last Updated

January 16, 2006

Status Verified

October 1, 2005

First QC Date

October 18, 2005

Last Update Submit

January 13, 2006

Conditions

Biliary Cirrhosis, Primary

Keywords

Primary biliary CirrhosisgenesDNA

Eligibility Criteria

Age18 Years - 80 Years
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

  • Patients attending Liver Clinic at Toronto Western Hospital, Toronto, ON, Canada
  • Diagnosis of PBC
  • Liver biopsy
  • Antimitochondrial antibody (AMA) positive
  • Elevated alkaline phosphatase (ALP)
  • Parents and siblings and controls (friends and spouses of propositi)

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Liver Clinic, Toronto Western Hospital, UHN

Toronto, Ontario, M5T 2S8, Canada

RECRUITING

Related Publications (1)

  • Hirschfield GM, Liu X, Xu C, Lu Y, Xie G, Lu Y, Gu X, Walker EJ, Jing K, Juran BD, Mason AL, Myers RP, Peltekian KM, Ghent CN, Coltescu C, Atkinson EJ, Heathcote EJ, Lazaridis KN, Amos CI, Siminovitch KA. Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. N Engl J Med. 2009 Jun 11;360(24):2544-55. doi: 10.1056/NEJMoa0810440. Epub 2009 May 20.

    PMID: 19458352DERIVED

MeSH Terms

Conditions

Liver Cirrhosis, Biliary

Condition Hierarchy (Ancestors)

Cholestasis, IntrahepaticCholestasisBile Duct DiseasesBiliary Tract DiseasesDigestive System DiseasesLiver DiseasesLiver CirrhosisFibrosisPathologic ProcessesPathological Conditions, Signs and Symptoms

Study Officials

  • E.J.L. (Jenny) Heathcote, MD

    UHN - Toronto Western Hospital, University of Toronto

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Catalina Coltescu

CONTACT

416-603-5832

Study Design

Study Type
observational
Observational Model
DEFINED POPULATION
Time Perspective
OTHER
Sponsor Type
OTHER

Study Record Dates

First Submitted

October 18, 2005

First Posted

October 19, 2005

Study Start

October 1, 2005

Last Updated

January 16, 2006

Record last verified: 2005-10

Locations

CA(1)