Primary sclerosing cholangitis, Whole-Exome Sequencing, Primaire scleroserende cholangitis, Inflammatory Bowel Disease
Conditions
Interventions
Between January 2017 and July 2017 we hope to collect blood from 50 small pedigrees. We will analyse the genotypes of each included family to look for markers or intervals that show perfect segregatio
Sponsors
University Medical Center Groningen (UMCG), Department of Pediatric Gastroenterology
Eligibility
Inclusion criteria
Inclusion criteria: This family based study involves two groups of participants: (1) The index patient who developed PSC before the age of 13, and in whom PSC was confirmed with either cholangiography or liver biopsy, and (2) The biological parents. Eligible candidates of group 1 can have any age. Confirmation of PSC by imaging is defined as the presence of multifocal strictures, focal dilatation, or beading of the biliary tree. Histological confirmation is defined as the presence of bile duct damage, onion-skinned peri-ductal fibrosis, inflammation, portal edema or fibrosis, ductopenia, ductular proliferation, or cholestasis.
Exclusion criteria
Exclusion criteria: Patients with PSC due to secondary causes such as surgery, trauma, cancer or infection will be excluded from participation in this study.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The identification of rare monogenic forms of PSC. | — |
Secondary
| Measure | Time frame |
|---|---|
| Not applicable. | — |
Contacts
Public ContactP.F. Rheenen, van
Brinklaan 6
Outcome results
None listed