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ClinicalTrials.gov Identifier: NCT00242125
Recruitment Status : Unknown
Verified October 2005 by University Health Network, Toronto. Recruitment status was: Recruiting
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.
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Ages Eligible for Study:
18 Years to 80 Years (Adult, Older Adult)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
Patients attending Liver Clinic at Toronto Western Hospital, Toronto, ON, Canada
Diagnosis of PBC
Antimitochondrial antibody (AMA) positive
Elevated alkaline phosphatase (ALP)
Parents and siblings and controls (friends and spouses of propositi)