Sifap
Encyclopedia
Sifap is a Pan-Europe
an 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.
. 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.
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).
Europe
Europe is, by convention, one of the world's seven continents. Comprising the westernmost peninsula of Eurasia, Europe is generally 'divided' from Asia to its east by the watershed divides of the Ural and Caucasus Mountains, the Ural River, the Caspian and Black Seas, and the waterways connecting...
an study dedicated to investigating the correlation of juvenile stroke
Stroke
A stroke, previously known medically as a cerebrovascular accident , is the rapidly developing loss of brain function due to disturbance in the blood supply to the brain. This can be due to ischemia caused by blockage , or a hemorrhage...
and a genetic disorder
Genetic disorder
A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions....
known as Fabry's disease
Fabry's disease
Fabry disease is a rare X-linked recessive lysosomal storage disease, which can cause a wide range of systemic symptoms...
. It was initiated by University of Rostock
University of Rostock
The University of Rostock is the university of the city Rostock, in the German state of Mecklenburg-Vorpommern.Founded in 1419, it is the oldest and largest university in continental northern Europe and the Baltic Sea area...
, Germany
Germany
Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate...
. 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 strokeStroke
A stroke, previously known medically as a cerebrovascular accident , is the rapidly developing loss of brain function due to disturbance in the blood supply to the brain. This can be due to ischemia caused by blockage , or a hemorrhage...
. 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).
Participating Centres
| Country | City | Institution |
|---|---|---|
| Belgium Belgium Belgium , officially the Kingdom of Belgium, is a federal state in Western Europe. It is a founding member of the European Union and hosts the EU's headquarters, and those of several other major international organisations such as NATO.Belgium is also a member of, or affiliated to, many... |
Antwerp | Middelheim General Hospital |
| Belgium Belgium Belgium , officially the Kingdom of Belgium, is a federal state in Western Europe. It is a founding member of the European Union and hosts the EU's headquarters, and those of several other major international organisations such as NATO.Belgium is also a member of, or affiliated to, many... |
Leuven | UZ Gasthuisburg Hospital |
| Germany Germany Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate... |
Altenburg | Kreiskrankenhaus Altenburg |
| Germany Germany Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate... |
Bayreuth | Klinikum Hohe Warte |
| Germany Germany Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate... |
Berlin | Charité |
| Germany Germany Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate... |
Berlin | Klinikum Neukölln |
| Germany Germany Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate... |
Bremen | Klinikum Bremen Mitte |
| Germany Germany Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate... |
Celle | Allgemeines Krankenhaus Celle |
| Germany Germany Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate... |
Chemnitz | Klinikum Chemnitz |
| Germany Germany Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate... |
Dresden | Universitätsklinikum Carl Gustav Carus |
| Germany Germany Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate... |
Düsseldorf | Heinrich-Heine-Universität |
| Germany Germany Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate... |
Frankfurt | Johann-Wolfgang-Goethe-Universität |
| Germany Germany Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate... |
Giessen | Universität Giessen |
| Germany Germany Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate... |
Greifswald | Ernst-Moritz-Arndt-Universität |
| Germany Germany Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate... |
Halle/Saale | Martin-Luther-Universität |
| Germany Germany Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate... |
Hamburg | Universitätsklinikum Hamburg-Eppendorf |
| Germany Germany Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate... |
Heidelberg | Universität Heidelberg |
| Germany Germany Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate... |
Jena | Universitätsklinikum Jena |
| Germany Germany Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate... |
Kiel | Universitätsklinikum Schleswig-Holstein |
| Germany Germany Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate... |
Leipzig | Universitätsklinikum Leipzig |
| Germany Germany Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate... |
Marburg | Universitätsklinikum Giessen und Marburg |
| Germany Germany Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate... |
Mühlhausen | Ökumenisches Hainich Klinikum |
| Germany Germany Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate... |
Munich | Klinikum München - Großhadern |
| Germany Germany Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate... |
Münster | Universitätsklinikum Münster |
| Germany Germany Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate... |
Regensburg | Universitätsklinikum Regensburg |
| Germany Germany Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate... |
Rostock | Universität Rostock |
| Germany Germany Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate... |
Tübingen | Eberhard-Karls-Universität |
| Germany Germany Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate... |
Ulm | Universität Ulm |
| France France The French Republic , The French Republic , The French Republic , (commonly known as France , is a unitary semi-presidential republic in Western Europe with several overseas territories and islands located on other continents and in the Indian, Pacific, and Atlantic oceans. Metropolitan France... |
Lyon | Hospices Civils de Lyon |
| Finland Finland Finland , officially the Republic of Finland, is a Nordic country situated in the Fennoscandian region of Northern Europe. It is bordered by Sweden in the west, Norway in the north and Russia in the east, while Estonia lies to its south across the Gulf of Finland.Around 5.4 million people reside... |
Helsinki | Helsinki University Central Hospital |
| Georgia Georgia (country) Georgia is a sovereign state in the Caucasus region of Eurasia. Located at the crossroads of Western Asia and Eastern Europe, it is bounded to the west by the Black Sea, to the north by Russia, to the southwest by Turkey, to the south by Armenia, and to the southeast by Azerbaijan. The capital of... |
Tbilisi | S.Khechinashvili University |
| Republic of Ireland Republic of Ireland Ireland , described as the Republic of Ireland , is a sovereign state in Europe occupying approximately five-sixths of the island of the same name. Its capital is Dublin. Ireland, which had a population of 4.58 million in 2011, is a constitutional republic governed as a parliamentary democracy,... |
Dublin | The Adelaide and Meath Hospital |
| Israel Israel The State of Israel is a parliamentary republic located in the Middle East, along the eastern shore of the Mediterranean Sea... |
Tel Aviv | Sourasky Medical Center |
| Italy Italy Italy , officially the Italian Republic languages]] under the European Charter for Regional or Minority Languages. In each of these, Italy's official name is as follows:;;;;;;;;), is a unitary parliamentary republic in South-Central Europe. To the north it borders France, Switzerland, Austria and... |
Milan | Ospedale Maggiore Policlinico |
| Croatia Croatia Croatia , officially the Republic of Croatia , is a unitary democratic parliamentary republic in Europe at the crossroads of the Mitteleuropa, the Balkans, and the Mediterranean. Its capital and largest city is Zagreb. The country is divided into 20 counties and the city of Zagreb. Croatia covers ... |
Zagreb | University Hospital "Sestre Milosrdnice" |
| Malta Malta Malta , officially known as the Republic of Malta , is a Southern European country consisting of an archipelago situated in the centre of the Mediterranean, south of Sicily, east of Tunisia and north of Libya, with Gibraltar to the west and Alexandria to the east.Malta covers just over in... |
Msida | St. Anne's Clinic |
| Austria Austria Austria , officially the Republic of Austria , is a landlocked country of roughly 8.4 million people in Central Europe. It is bordered by the Czech Republic and Germany to the north, Slovakia and Hungary to the east, Slovenia and Italy to the south, and Switzerland and Liechtenstein to the... |
Graz | Universitätsklinik für Neurologie |
| Austria Austria Austria , officially the Republic of Austria , is a landlocked country of roughly 8.4 million people in Central Europe. It is bordered by the Czech Republic and Germany to the north, Slovakia and Hungary to the east, Slovenia and Italy to the south, and Switzerland and Liechtenstein to the... |
Innsbruck | Universitätsklinik für Neurologie |
| Austria Austria Austria , officially the Republic of Austria , is a landlocked country of roughly 8.4 million people in Central Europe. It is bordered by the Czech Republic and Germany to the north, Slovakia and Hungary to the east, Slovenia and Italy to the south, and Switzerland and Liechtenstein to the... |
Klagenfurt | LKH |
| Austria Austria Austria , officially the Republic of Austria , is a landlocked country of roughly 8.4 million people in Central Europe. It is bordered by the Czech Republic and Germany to the north, Slovakia and Hungary to the east, Slovenia and Italy to the south, and Switzerland and Liechtenstein to the... |
Salzburg | Christian Doppler Klinik |
| Austria Austria Austria , officially the Republic of Austria , is a landlocked country of roughly 8.4 million people in Central Europe. It is bordered by the Czech Republic and Germany to the north, Slovakia and Hungary to the east, Slovenia and Italy to the south, and Switzerland and Liechtenstein to the... |
Vienna | Krankenhaus der Barmherzigen Brüder |
| Austria Austria Austria , officially the Republic of Austria , is a landlocked country of roughly 8.4 million people in Central Europe. It is bordered by the Czech Republic and Germany to the north, Slovakia and Hungary to the east, Slovenia and Italy to the south, and Switzerland and Liechtenstein to the... |
Linz | Wagner-Jauregg Linz |
| Poland Poland Poland , officially the Republic of Poland , is a country in Central Europe bordered by Germany to the west; the Czech Republic and Slovakia to the south; Ukraine, Belarus and Lithuania to the east; and the Baltic Sea and Kaliningrad Oblast, a Russian exclave, to the north... |
Warsaw | Institute of Psychiatry and Neurology |
| Portugal Portugal Portugal , officially the Portuguese Republic is a country situated in southwestern Europe on the Iberian Peninsula. Portugal is the westernmost country of Europe, and is bordered by the Atlantic Ocean to the West and South and by Spain to the North and East. The Atlantic archipelagos of the... |
Lisbon | Hospital de Sao José |
| Spain Spain Spain , officially the Kingdom of Spain languages]] under the European Charter for Regional or Minority Languages. In each of these, Spain's official name is as follows:;;;;;;), is a country and member state of the European Union located in southwestern Europe on the Iberian Peninsula... |
Madrid | Hospital Universitario La Paz |
| United Kingdom United Kingdom The United Kingdom of Great Britain and Northern IrelandIn the United Kingdom and Dependencies, other languages have been officially recognised as legitimate autochthonous languages under the European Charter for Regional or Minority Languages... |
Glasgow | University of Glasgow |
| United Kingdom United Kingdom The United Kingdom of Great Britain and Northern IrelandIn the United Kingdom and Dependencies, other languages have been officially recognised as legitimate autochthonous languages under the European Charter for Regional or Minority Languages... |
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