Genomics of Primary Sclerosing Cholangitis (PSC)

NCT01161992 | Completed

• 1 other identifier: 670-02 PSC
• Study Type: observational
• Target: 1,500
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Primary Sclerosing Cholangitis (PSC)

Keywords

Primary Sclerosing Cholangitis; PSC; Cholestatic Liver Disease

Outcome Measures

Primary Outcomes (1)

• 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,

Interventions

Genetic Analysis GENETIC

Perform Genome Wide Association Studies.

Eligibility Criteria

• Age: 5 Years - 90 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Subjects who are patients at Mayo Clinic and are seen in the department of Gastroenterology and Hepatology are recruited by mail and carry a diagnosis of Primary Sclerosing Cholangitis (PSC). Subjects who are not Mayo Clinic patients are encouraged to contact the study coordinator by phone or email to request enrollment.

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• Mayo Clinic: lead

Study Sites (1)

Mayo Clinic

Rochester, Minnesota, 55901, United States

Location

Related Publications (1)

• Juran BD, Atkinson EJ, Schlicht EM, Larson JJ, Ellinghaus D, Franke A, Lazaridis KN. Genetic polymorphisms of matrix metalloproteinase 3 in primary sclerosing cholangitis. Liver Int. 2011 Jul;31(6):785-91. doi: 10.1111/j.1478-3231.2010.02420.x. Epub 2010 Dec 7.

  PMID: 21134112 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample will be drawn at local facility and sent to Mayo Clinic by mail. Stool sample will be collected and sent back to Mayo Clinic by mail. All study related charges will be charged to the study.

MeSH Terms

Conditions

Cholangitis, Sclerosing

Interventions

Genetic Testing

Condition Hierarchy (Ancestors)

Cholangitis; Bile Duct Diseases; Biliary Tract Diseases; Digestive System Diseases

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Officials

• Konstantinos N Lazaridis, M.D.

  Mayo Clinic

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Hepatology Consultant

Study Record Dates

• First Submitted: July 12, 2010
• First Posted: July 14, 2010
• Study Start: March 1, 2002
• Primary Completion: July 1, 2025
• Study Completion: July 31, 2025
• Last Updated: August 7, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)