Whole-Exome Sequencing in Dutch Children with PSC
- Conditions
- Primary Sclerosing Cholangitis1001796910019654
- Registration Number
- NL-OMON46010
- Lead Sponsor
- niversitair Medisch Centrum Groningen
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Completed
- Sex
- Not specified
- Target Recruitment
- 150
This study involves two groups of participants:
(1) An affected individual who developed PSC before the age of 13, and in whom PSC was confirmed with either cholangiography or liver biopsy
(2) Parents of participants of group 1 ;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
Patients with PSC due to secondary causes such as surgery, trauma, cancer or infection will be excluded from participation in this study
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>Identification of rare coding variants of large effect that predict early-onset<br /><br>PSC</p><br>
- Secondary Outcome Measures
Name Time Method <p>Not applicable</p><br>