Whole-Exome Sequencing in Dutch Children with PSC

Whole-Exome Sequencing in Dutch Children with PSC - WHELP-study

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON46010

Enrollment

150

Registered

2016-12-06

Start date

2017-01-05

Completion date

Unknown

Last updated

2024-04-23

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Primary Sclerosing Cholangitis

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: 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

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
Identification of rare coding variants of large effect that predict early-onset PSC	—

Countries

Netherlands

Outcome results