Clinical trial NCT00414583: Stroke in Young Fabry Patients (sifap1): Frequency of Fabry Disease in Young Stroke Patients
Official title: Stroke in Young Fabry Patients (sifap1): Frequency of Fabry Disease in an Unselected Group of Young Stroke Patients: an International, Multicentre Prevalence Study
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Cerebrovascular Accident
Keywords: Cerebrovascular Accident
Cerebrovascular Accident, Acute
CVA (Cerebrovascular Accident)
Cerebral Stroke
Stroke, Acute
Cerebrovascular Stroke
Fabry Disease
Anderson-Fabry Disease
Fabry's Disease
Lead sponsor: CENTOGENE GmbH Rostock
Sponsor class: INDUSTRY
Collaborators: name: Shire Human Genetic Therapies, Inc.
First posted: 2006-12-21
Enrollment: 5000
Sex: ALL
Minimum age (years): 18
Maximum age (years): 55
Standard ages: ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Adult patients (18 - 55 years of age) with an acute cerebrovascular event of any etiology defined as patients having an acute ischemic stroke or transient ischemic attack less than 3 months before enrollment into the study

Brief summary: More than one million people in Europe suffer from a stroke every day. Normally older people have a stroke, but also a significant number of younger people between 18 and 55 years. Usually, these cannot be explained by the classical risk factors such as diabetes, overweight and high blood pressure. New studies indicate that in about 1 - 2 % of the younger stroke patients the cause could have been an undiagnosed genetic disease, the so called Fabry disease. The purpose of this study is to determine in a large number of young stroke patients, how many strokes were caused by Fabry Disease.

Detailed description: Aim:

To determine the frequency of Fabry disease in an unselected group of young patients (18 - 55 years of age) with acute cerebrovascular event (CVE)

Fabry disease and stroke:

Rolfs and co-workers have shown a high frequency of Fabry disease in a cohort of patients with cryptogenic stroke (4 % \[28/721\]) aged between 18 and 55 years. This corresponds to about 1.2 % in the general population of young stroke patients. Therefore the authors stated that Fabry disease must be considered in all cases of unexplained stroke in young patients, especially in cases with the combination of infarction in the vertebrobasilar artery system and proteinuria.

Cryptogenic strokes are cerebrovascular lesions of unknown origin. Clinical and laboratory data show that Fabry disease is itself a risk factor for accelerated atherosclerosis and cardiac and renal disease, which can lead to emboli and hypertension. The pilot-phase started April 2007; the official study started January 2008.

Eligibility criteria: Inclusion Criteria:

* Adult patients (18 - 55 years of age) with an acute cerebrovascular event of any etiology defined as patients having an acute ischemic stroke or transient ischemic attack less than 3 months before enrollment into the study
* MRI-scan evidence of associated corresponding brain infarction or hemorrhage, regardless of the duration of symptoms. Alternatively also patients with no signs of stroke in the MRI can be included if a stroke-experienced neurologist has done the initial diagnosis as ischemic stroke, transient ischemic attack or hemorrhage.
* Detailed MRI documentation at admission to entry to the study
* Diagnostic procedures for CVE according to the EUSI recommendations
* Written informed consent from patient or legal representative according to local regulations

Exclusion Criteria:

* Patients being younger than 18 years or older than 55 years of age.
* Acute ischemic stroke or transient ischemic attack longer than 3 months before enrolment into the study
* Diagnosis of the CVE within the last 3 months has been done by a non-neurologist if there is no MRI-scan evidence of associated brain infarction or hemorrhage
* No detailed MRI documentation at admission to entry to the study

Primary outcomes:
measure: Prevalence of Fabry disease in the unselected group of young stroke patients
timeFrame: baseline
Secondary outcomes:
measure: Classification of stroke subtype in patients identified to have Fabry disease acc. to TOAST criteria, modified Rankin scale, Barthel index and MRI criteria.
timeFrame: baseline
Other outcomes:
Locations:
city: Graz
country: Austria
facility: Universitätsklinikum für Neurologie
city: Innsbruck
country: Austria
facility: Department of Neurology, Universitaetsklinik fuer Neurologie Innsbruck
city: Linz
country: Austria
facility: Wagner-Jauregg Linz, Department of Neurology
city: Salzburg
country: Austria
facility: Christian-Doppler-Klinik, Department für medizin. Studien
city: Wien
country: Austria
facility: Krankenhaus der Barmherzigen Brüder, Abteilung für Neurologie
city: Antwerp
country: Belgium
facility: Middelheim General Hospital, Dept. of Neurology/Memory Clinic
city: Leuven
country: Belgium
facility: UZ Gasthuisburg Hospital
city: Zagreb
country: Croatia
facility: Department of Neurology, University Hospital Sestre Milosrdnice
city: Helsinki
country: Finland
facility: Helsinki University Central Hospital, Department of Neurology
city: Lyon
country: France
facility: Hopital Neurologique de Lyon, Service d'urgences Neurovasculaires
city: Tblisi
country: Georgia
facility: Department of Neurology, S. Khechinashvili University clinic of Tbilisi state medical university
city: Altenburg
country: Germany
facility: Department of Neurology, Kreiskrankenhaus Altenburg
city: Bayreuth
country: Germany
facility: Department of Neurology, Klinikum Hohe Warte
city: Berlin
country: Germany
facility: Dept. of Neurology, Vivantes Netzwerk für Gesundheit GmbH, Klinikum Neukölln
city: Berlin
country: Germany
facility: Charite Campus Benjamin Franklin, Dept. of Neurology
city: Bremen
country: Germany
facility: Klinikum Bremen Mitte gGmbH, Neurologische Klinik
city: Celle
country: Germany
facility: Department of Neurology, Allgemeines Krankenhaus Celle
city: Chemnitz
country: Germany
facility: Department of Neurology, Klinikum Chemnitz gGmbH
city: Dresden
country: Germany
facility: Department of Neurology, Universitaetsklinikum Carl Gustav Carus
city: Duesseldorf
country: Germany
facility: Heinrich-Heine University Duesseldorf, Dept. of Neurology
city: Frankfurt
country: Germany
facility: Dept. of Neurology, Johann-Wolfgang-Goethe-Universität
city: Giessen
country: Germany
facility: University of Giessen-Marburg Dept. of Neurology
city: Greifswald
country: Germany
facility: Department of Neurology, Ernst-Moritz-Arndt-University
city: Halle (Saale)
country: Germany
facility: Dept. of Neurology, Martin-Luther-Universität, Universitätsklinik und Poliklinik für Neurologie
city: Hamburg
country: Germany
facility: Department of Neurology S10, Universitaetsklinikum Hamburg-Eppendorf
city: Heidelberg
country: Germany
facility: University of Heidelberg, Department of Neurology
city: Jena
country: Germany
facility: Department of Neurology, Universitaetsklinikum Jena
city: Kiel
country: Germany
facility: University Schleswig-Holstein, Dept. of Neurology
city: Leipzig
country: Germany
facility: Department of Neurology, Universitaetsklinikum Leipzig
city: Marburg
country: Germany
facility: Department of Neurology, Universitaetsklinikum Giessen und Marburg GmbH
city: Muenster
country: Germany
facility: University of Muenster, Dept. of Neurology
city: Mühlhausen
country: Germany
facility: Dept. of Neurology, Ökumenisches Hainich Klinikum gGmbH
city: München
country: Germany
facility: Ludwig-Maximilians-University of Munich, Dept. of Neurology
city: Regensburg
country: Germany
facility: Department of Neurology, Klinik und Poliklinik fuer Neurologie
city: Rostock
country: Germany
facility: University of Rostock, Department of Neurology
city: Tuebingen
country: Germany
facility: Department of Neurology, University Tuebingen
city: Ulm
country: Germany
facility: University of Ulm, Department of Neurology
city: Dublin
country: Ireland
facility: The Adelaide and Meath Hospital, Department of Neurology
city: Milan
country: Italy
facility: Dept. of Neurology, Ospoedale Maggiore Policlinico
city: Msida
country: Malta
facility: Neuromedical Ward, Mater Dei Hospital
city: Warsaw
country: Poland
facility: Institute of Psychiatry and Neurology, Dept. of Neurology
city: Lisboa
country: Portugal
facility: Centro Hospitalar de Lisboa Central, Servico de Neurologia
city: Madrid
country: Spain
facility: Department of Neurology, Hospital Universitario La Paz
city: Glasgow
country: United Kingdom
facility: Stroke Prevention Research Unit, Dept. of Clinical Neurology, University of Glasgow, Southern General Hospital
state: Scotland
city: Oxford
country: United Kingdom
facility: Stroke Prevention Research Unit, John Radcliffe Hospital
Study officials:
References:
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