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Whole-Exome Sequencing in Dutch Children with Primary Sclerosing Cholangitis (WHELP-study)


- candidate number26697
- NTR NumberNTR6244
- ISRCTNISRCTN no longer applicable
- Date ISRCTN created
- date ISRCTN requested
- Date Registered NTR13-feb-2017
- Secondary IDs2016/289 METc UMC Groningen
- Public TitleWhole-Exome Sequencing in Dutch Children with Primary Sclerosing Cholangitis (WHELP-study)
- Scientific TitleWhole-Exome Sequencing in Dutch Children with Primary Scleorsing Cholangitis (WHELP-study)
- ACRONYMWHELP
- hypothesisPrimary sclerosing cholangitis (PSC) is a severe liver disease of unknown etiology leading to fibrotic destruction of the bile ducts and ultimately to the need for liver transplantation (LTx) in young adults. When PSC develops before the age of 13 it is always associated with inflammatory bowel disease (IBD). Though several PSC susceptible genes and risk variants have been identified, large part of the heritability for PSC is still unexplained. We aim to screen the exonic regions of all the genes in patients with childhood-onset PSC using whole-exome sequencing (WES) to discover monogenic forms of PSC.
- Healt Condition(s) or Problem(s) studiedPrimary sclerosing cholangitis, Inflammatory bowel disease
- Inclusion criteriaThis 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 criteriaPatients with PSC due to secondary causes such as surgery, trauma, cancer or infection will be excluded from participation in this study.
- mec approval receivedyes
- multicenter trialyes
- randomisedno
- group[default]
- Type[default]
- Studytype[default]
- planned startdate 1-jan-2017
- planned closingdate1-jan-2018
- Target number of participants50
- InterventionsBetween 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 segregation with the PSC phenotype.
- Primary outcomeThe identification of rare monogenic forms of PSC.
- Secondary outcomeNot applicable.
- TimepointsBlood will be collected at one point in time during a regular health visit.
- Trial web site
- statusopen: patient inclusion
- CONTACT FOR PUBLIC QUERIESMD. P.F. Rheenen, van
- CONTACT for SCIENTIFIC QUERIESMD. P.F. Rheenen, van
- Sponsor/Initiator University Medical Center Groningen (UMCG), Beatrix Children's Hospital
- Funding
(Source(s) of Monetary or Material Support)
University Medical Center Groningen (UMCG)
- Publications
- Brief summaryRationale: Primary sclerosing cholangitis (PSC) is a severe liver disease of unknown etiology leading to fibrotic destruction of the bile ducts and ultimately to the need for liver transplantation (LTx) in young adults. When PSC develops before the age of 18 it is always associated with inflammatory bowel disease (IBD). Though several PSC susceptible genes and risk variants have been identified, large part of the heritability for PSC is still unexplained. We aim to screen the exonic regions of all the genes in patients with childhood-onset PSC using whole-exome sequencing (WES) to discover monogenic forms of PSC.

Objective: To identify disease-causing monogenic mutations in a Dutch cohort of PSC patients who were diagnosed before the age of 13.

Study design: Between October 2016 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 segregation with the PSC phenotype. We will then choose genes therein to sequence for mutations on the basis of previous studies of the genes.

Study population: This study will use DNA of patients with childhood-onset PSC. Index patients will be recruited from several Dutch hospitals. Their biological parents will then also be invited to participate by the treating physician.

Main study parameters/endpoints: Identification of rare coding variants of large effect that are associated with early-onset PSC.
- Main changes (audit trail)
- RECORD13-feb-2017 - 29-apr-2017


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