Sifap ("stroke in young Fabry patients") is a Pan-European study dedicated to investigating the correlation of juvenile stroke and a genetic disorder known as Fabry's disease. It was initiated by University of Rostock, Germany. In recruiting 5,000 patients aged 18 to 55 it will be the largest study on stroke in the young. Approximately 50 study centres from about 15 European countries are participating in the project. The study is divided into two parts: sifap1 and sifap2. Whereas sifap1 analyses the frequency of Fabry disease within the patient cohort, sifap2 controls and investigates the rehabilitation phase of diagnosed Fabry patients.
Background The goal of the study is to show that Fabry disease has to be considered to be one of the most frequent genetic causes of juvenile stroke. To date the frequency of Fabry disease among general population has been estimated to be around 1:40,000. However, recent investigations have shown that Fabry disease can occur in 1 of 83 stroke patients aged 18–55 and between 1 of 3,500 to 1 of 4,500 individuals of the general population. Sifap aims at scientifically testing and supporting these findings.
Progress After the proof-of-principle phase (April to December 2007) the official start of the study was January 1, 2008. Sifap1 patients were recruited until June 30, 2009. Sifap2 runs simultaneously, and is scheduled to conclude on June 30, 2012.
Technique
One of sifap’s unique characteristics is the fully automated analysis and storage of specimens in combination with the complete digital and web-based data handling. A pipetting robot extracts DNA from specimens and analyses them for Fabry disease. Afterwards, specimens are automatically stored in a biobank and consequently are available for future investigations.
Committees In order to control, advise and establish professional structures two committees were formed. Publication issues and sifap basics are the responsibility of the steering committee. The nine members are: Miron Ginsberg (Miami, USA), Michael Hennerici (Mannheim, Germany), Christof Kessler (Greifswald, Germany), Edwin Kolodny (New York, USA), Peter Martus (Berlin, Germany), Bo Norrving (Lund, Sweden), Erich-Bernd Ringelstein (Münster, Germany), Peter Rothwell (Oxford, UK) and Graham Vanables (Sheffield, UK) The biobank committee oversees the administration of stored specimens and decides in formal meetings on proposed new projects. The biobank committee consists of: Natan Bornstein (Tel Aviv, Israel), Peter Paul DeDeyn (Antwerp, Belgium), Martin Dichgans (Munich, Germany), Franz Fazekas (Graz, Austria), Hugh Markus (London, UK), Olaf Rieß (Tübingen, Germany) and Arndt Rolfs (Rostock, Germany). Imaging analysis was centrally performed at the Department of Neurology of the Medical University of Graz, coordinated by Franz Fazekas.
Participating Centres Country City Institution Belgium Antwerp Middelheim General Hospital Belgium Leuven UZ Gasthuisburg Hospital Germany Altenburg Kreiskrankenhaus Altenburg Germany Bayreuth Klinikum Hohe Warte Germany Berlin Charité Germany Berlin Klinikum Neukölln Germany Bremen Klinikum Bremen Mitte Germany Celle Allgemeines Krankenhaus Celle Germany Chemnitz Klinikum Chemnitz Germany Dresden Universitätsklinikum Carl Gustav Carus Germany Düsseldorf Heinrich-Heine-Universität Germany Frankfurt Johann-Wolfgang-Goethe-Universität Germany Giessen Universität Giessen Germany Greifswald Ernst-Moritz-Arndt-Universität Germany Halle/Saale Martin-Luther-Universität Germany Hamburg Universitätsklinikum Hamburg-Eppendorf Germany Heidelberg Universität Heidelberg Germany Jena Universitätsklinikum Jena Germany Kiel Universitätsklinikum Schleswig-Holstein Germany Leipzig Universitätsklinikum Leipzig Germany Marburg Universitätsklinikum Giessen und Marburg Germany Mühlhausen Ökumenisches Hainich Klinikum Germany Munich Klinikum München - Großhadern Germany Münster Universitätsklinikum Münster Germany Regensburg Universitätsklinikum Regensburg Germany Rostock Universität Rostock Germany Tübingen Eberhard-Karls-Universität Germany Ulm Universität Ulm France Lyon Hospices Civils de Lyon Finland Helsinki Helsinki University Central Hospital Georgia Tbilisi S.Khechinashvili University Republic of Ireland Dublin The Adelaide and Meath Hospital Italy Milan Ospedale Maggiore Policlinico Croatia Zagreb University Hospital "Sestre Milosrdnice" Malta Msida St. Anne's Clinic Austria Graz Universitätsklinik für Neurologie Austria Innsbruck Universitätsklinik für Neurologie Austria Klagenfurt LKH Austria Salzburg Christian Doppler Klinik Austria Vienna Krankenhaus der Barmherzigen Brüder Austria Linz Wagner-Jauregg Linz Poland Warsaw Institute of Psychiatry and Neurology Portugal Lisbon Hospital de Sao José Spain Madrid Hospital Universitario La Paz United Kingdom Glasgow University of Glasgow United Kingdom Oxford University of Oxford
Literature Rolfs et al. "Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study", The Lancet, Vol 366, 2005 Spada et al. "High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening", The American Journal of Human Genetics, Vol 79, 2006
References
External links Official website (archived)
fr:Sifap