Genomics of Primary Sclerosing Cholangitis (PSC)

Primary Sclerosing Cholangitis (PSC) is a progressive liver disorder of unknown cause. Current evidence suggests that genes, the genetic material we inherit from our parents, in combination with environmental factors, likely play an important role in the development of PSC.

This study is being done to investigate whether genes make people more likely to develop PSC. Discovery of these genes will help us to better understand how PSC developes and subsequently, to apply new approaches for its prevention, diagnosis and treatment.

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Key information

Conditions

Primary Sclerosing Cholangitis (PSC) Bile Duct Diseases Biliary Tract Diseases Cholangitis Cholangitis, Sclerosing Digestive System Diseases

Age range

5 year–90 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Mayo Clinic

Rochester, Minnesota, 55901, United States

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Men, Women, and Children between the ages of 5-90 with a history of PSC.
PSC patients who have had a liver transplant are eligible.
Family members (1st degree relatives) of enrolled PSC patients are eligible.

Exclusion criteria

Individuals with no history of PSC or those unable to provide consent.

Treatment and study plan

Genetic analysis

Genetic

Perform Genome Wide Association Studies.

Primary outcomes

Mapping of Susceptibility Genes in Adult Chronic Cholestatic Liver Diseases

Adult chronic cholestatic liver diseases, such as Primary Sclerosing Cholangitis (PSC), are progressive liver disorders of unknown cause. Current evidence suggests that genes, the genetic material we inherit from our parents, in combination with environmental factors, likely play an important role in the development of PSC.

This study is being done to investigate whether genes (the inherited genetic material passed from parents to their children) make people more likely to develop PSC. Discovery of these proposed genes will help us to better understand how PSC progresses,

Sponsors and collaborators

Lead sponsor

Mayo Clinic

Other

Registry information

Official study title

P.R.O.G.R.E.S.S.: PSC Resource Of Genetic Risk, Environment and Synergy Studies.

Important dates

Study start: 2002
Primary completion: 2025
Study completion: 2025
First posted: Jul 14, 2010
Registry last updated: Aug 7, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed