Workpackage 1 - Patients
Coordinator Eystein Husebye, Bergen, Norway
Last updated 2006-03-28
We aim to create a database of detailed information on APS I patients and families, including records of clinical manifestations and their treatment. Longitudinal data collections that already exist in Finland and Sardinia will be included. A biobank containing DNA samples, cell lines and restricted number of tissue samples of APS I patients will be established. We will provide mutational analysis of the Aire gene, HLA-typing and assay of various antibodies associated with APS I. We aim to build a user friendly web-site to share information and results to clinicians worldwide.
-Increased knowledge about clinical aspects of the disease and the effects of treatment.
Only a few larger APS I patient studies have been published. Studies on a large European cohort will enable us to study the full spectrum of disease and help establish the most effective treatment.
-Revised guidelines for diagnostic criteria for APS I.
Better diagnostic criteria are likely to find yet undiagnosed patients with the syndrome.A comprehensive home page for clinicians and patients will be instrumental in disseminating knowledge about APS I.
-Involvement of genes for the development of modulation of disease.
The DNA biobank will enable rapid investigation of the importance of candidate genes for the disease. It will provide a range of human mutations of Aire, which may be used to study the function of the Aire protein.
-Characterisation of antibodies.
The serum biobank will enable rapid investigation of antibodies and/or other serological markers. Findings can be correlated to clinical manifestations. The bio bank will be instrumental in the standardisation of autoantibody analyses.
More information on the organisation of the patient registry and the biobank will be available on the webpages soon.