Molecular markers for diagnosis and therapy response in Inflammatory Bowel diseases: A prospective population based bio-bank of inflammatory bowel disease patients in Zuid Limburg, The Netherlands.

The invalidating inflammatory bowel diseases (IBD), Crohn*s disease (CD) and
ulcerative colitis (UC) are characterized by a heterogenic clinical
presentation and variable therapeutic response. A genetically altered
intestinal immune response in interaction with environmental factors and
intestinal microbiota are causing these diseases. Despite the identification of
over 60 susceptibility genes trough large-scale genome wide association (GWA)
studies and the identification of several serological markers, molecular
diagnostics is still in its infancy. Currently, the diagnosis is accomplished
via endoscopy and physician assessment, combined with non-molecular laboratory
tests. Disease treatment consists of a succession of more or less successful
therapeutic regimens, until one is selected as a reasonable balance between
remediation of disease symptoms and side effects. Several IBD bio-banks are
available world-wide but patients are collected in tertiary referral centers
and therefore not representable for the IBD population. Furthermore disease
phenotypes are mostly obtained by retrospective chart study. Since 1991 all the
new IBD patients in South Limburg, The Netherlands were prospectively included
in a disease registry due to collaboration of all the gastroenterologists of
the 3 hospitals (Maastricht Universitair Medisch Centrum (MUMC), Maastricht,
Atrium Medisch Centrum, Heerlen and Orbis MedischCentrum, Sittard-Geleen) in
the region. This project is further referred to as the IBD Zuid Limburg
(IBD-ZL) cohort. Over 90% of IBD patients in the region are included in this
project.

Since a population based biobank with matched control subjects is the ideal
study population for identification of causal pathways, the identification and
confirmation of new molecular markers for disease course, phenotype and therapy
response, we want to start a prospective population based IBD biobank of the
existing IBD-ZL cohort.

Patients presently registered in the IBD-ZL cohort are described in table 1.
The aim of this project is to start a bio-bank project of this cohort together
with prospective data collection of disease phenotype, disease activity,
response to treatment and disease course. Sufficient finances are available to
include all IBD patients in the ZL registry in the biobank together with
biomaterial of parents and partners serving as control subjects. All the
patients in the registry will be contacted and be asked to participate.
Patients will be visited at home by a genetic field worker. After giving their
informed consent DNA, serum, plasma, exhaled air and a stool sample are
collected. All the information obtained will be added to a specially designed
web-base data management system (MACRO). The MACRO system guarantees safety and
allows for direct inclusion of data in all the participating hospitals. Patient
are assigned a number (family relations are detectable) and data is coded.
Phenotypic information regarding disease location, behavior and complications
will be extracted from the electronic patient files (EPD) in the participating
centers and added to the MACRO database. An update of the disease phenotype
will be performed every six months. Clinical information together with
laboratory and endoscopic parameters of all the patients followed at the MUMC
(one third of the patients) will be registered in MACRO prospectively at every
patient visit in parallel with the Parel Snoer Initiative (PSI). Biomaterials
are stored in the central biobank facility of the MUMC.

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