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Stroke in Young Fabry Patients (sifap1): Frequency of Fabry Disease in Young Stroke Patients (sifap1)

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ClinicalTrials.gov Identifier: NCT00414583
Recruitment Status : Completed
First Posted : December 21, 2006
Last Update Posted : May 19, 2016
Sponsor:
Collaborator:
Shire Human Genetic Therapies, Inc.
Information provided by (Responsible Party):
Prof. Dr. Arndt Rolfs, University of Rostock

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.

Condition or disease Intervention/treatment
Cerebrovascular Accident Other: No intervention

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.


Study Type : Observational
Actual Enrollment : 5000 participants
Observational Model: Cohort
Time Perspective: Prospective
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 Start Date : January 2008
Actual Primary Completion Date : January 2010
Actual Study Completion Date : January 2010

Resource links provided by the National Library of Medicine


Group/Cohort Intervention/treatment
Observation
all adult patients (18 - 55 years of age) with an acute cerebrovascular event of any etiology
Other: No intervention
Observational study, only laboratory analysis and diagnostic interventions done; no drug tested
Other Name: only 1 observational group




Primary Outcome Measures :
  1. Prevalence of Fabry disease in the unselected group of young stroke patients [ Time Frame: baseline ]

Secondary Outcome Measures :
  1. Classification of stroke subtype in patients identified to have Fabry disease acc. to TOAST criteria, modified Rankin scale, Barthel index and MRI criteria. [ Time Frame: baseline ]

Biospecimen Retention:   Samples With DNA
Fabry diagnostic will be done centrally: blood samples will be retained for analysis of a-galactosidase in blood to diagnose an a-galactosidase deficit; in females direct analysis of the gene has to be done since due to the Lyonisation effect a-galactosidase activity might be normal in blood although the patient might suffer from Fabry disease.


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Ages Eligible for Study:   18 Years to 55 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00414583


  Hide Study Locations
Locations
Austria
Universitätsklinikum für Neurologie
Graz, Austria, A-8036
Department of Neurology, Universitaetsklinik fuer Neurologie Innsbruck
Innsbruck, Austria, 6020
Wagner-Jauregg Linz, Department of Neurology
Linz, Austria, A-4020
Christian-Doppler-Klinik, Department für medizin. Studien
Salzburg, Austria, 5020
Krankenhaus der Barmherzigen Brüder, Abteilung für Neurologie
Wien, Austria, 1020
Belgium
Middelheim General Hospital, Dept. of Neurology/Memory Clinic
Antwerp, Belgium, 2020
UZ Gasthuisburg Hospital
Leuven, Belgium, 3000
Croatia
Department of Neurology, University Hospital Sestre Milosrdnice
Zagreb, Croatia, 10000
Finland
Helsinki University Central Hospital, Department of Neurology
Helsinki, Finland, 00290
France
Hopital Neurologique de Lyon, Service d'urgences Neurovasculaires
Lyon, France, F-69003
Georgia
Department of Neurology, S. Khechinashvili University clinic of Tbilisi state medical university
Tblisi, Georgia, 0179
Germany
Department of Neurology, Kreiskrankenhaus Altenburg
Altenburg, Germany, 04600
Department of Neurology, Klinikum Hohe Warte
Bayreuth, Germany, 95445
Dept. of Neurology, Vivantes Netzwerk für Gesundheit GmbH, Klinikum Neukölln
Berlin, Germany, 12351
Charite Campus Benjamin Franklin, Dept. of Neurology
Berlin, Germany, D-12200
Klinikum Bremen Mitte gGmbH, Neurologische Klinik
Bremen, Germany, 28177
Department of Neurology, Allgemeines Krankenhaus Celle
Celle, Germany, 29223
Department of Neurology, Klinikum Chemnitz gGmbH
Chemnitz, Germany, 09131
Department of Neurology, Universitaetsklinikum Carl Gustav Carus
Dresden, Germany, 01307
Heinrich-Heine University Duesseldorf, Dept. of Neurology
Duesseldorf, Germany, D-40225
Dept. of Neurology, Johann-Wolfgang-Goethe-Universität
Frankfurt, Germany, 60528
University of Giessen-Marburg Dept. of Neurology
Giessen, Germany, D-35385
Department of Neurology, Ernst-Moritz-Arndt-University
Greifswald, Germany, 17489
Dept. of Neurology, Martin-Luther-Universität, Universitätsklinik und Poliklinik für Neurologie
Halle (Saale), Germany, 06120
Department of Neurology S10, Universitaetsklinikum Hamburg-Eppendorf
Hamburg, Germany, 20246
University of Heidelberg, Department of Neurology
Heidelberg, Germany, D-69120
Department of Neurology, Universitaetsklinikum Jena
Jena, Germany, 07740
University Schleswig-Holstein, Dept. of Neurology
Kiel, Germany, D-24105
Department of Neurology, Universitaetsklinikum Leipzig
Leipzig, Germany, 04103
Department of Neurology, Universitaetsklinikum Giessen und Marburg GmbH
Marburg, Germany, 35039
University of Muenster, Dept. of Neurology
Muenster, Germany, D-48149
Dept. of Neurology, Ökumenisches Hainich Klinikum gGmbH
Mühlhausen / Thürigen, Germany, 99974
Ludwig-Maximilians-University of Munich, Dept. of Neurology
München, Germany, D-81377
Department of Neurology, Klinik und Poliklinik fuer Neurologie
Regensburg, Germany, 93053
University of Rostock, Department of Neurology
Rostock, Germany, D-18055
Department of Neurology, University Tuebingen
Tuebingen, Germany, 72076
University of Ulm, Department of Neurology
Ulm, Germany, D-89081
Ireland
The Adelaide and Meath Hospital, Department of Neurology
Dublin, Ireland, 24
Italy
Dept. of Neurology, Ospoedale Maggiore Policlinico
Milan, Italy, 20122
Malta
Neuromedical Ward, Mater Dei Hospital
Msida, Malta
Poland
Institute of Psychiatry and Neurology, Dept. of Neurology
Warsaw, Poland, 02-957
Portugal
Centro Hospitalar de Lisboa Central, Servico de Neurologia
Lisboa, Portugal, 1150-199
Spain
Department of Neurology, Hospital Universitario La Paz
Madrid, Spain, 28046
United Kingdom
Stroke Prevention Research Unit, Dept. of Clinical Neurology, University of Glasgow, Southern General Hospital
Glasgow, Scotland, United Kingdom, G51 4TF
Stroke Prevention Research Unit, John Radcliffe Hospital
Oxford, United Kingdom, OX39DU
Sponsors and Collaborators
University of Rostock
Shire Human Genetic Therapies, Inc.
Investigators
Principal Investigator: Arndt Rolfs, Prof., MD University of Rostock, Department of Neurology

Additional Information:
Publications:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

Responsible Party: Prof. Dr. Arndt Rolfs, Prof. Dr. med., University of Rostock
ClinicalTrials.gov Identifier: NCT00414583     History of Changes
Other Study ID Numbers: II PV03/2006
First Posted: December 21, 2006    Key Record Dates
Last Update Posted: May 19, 2016
Last Verified: May 2016

Keywords provided by Prof. Dr. Arndt Rolfs, University of Rostock:
Cerebrovascular Accident
Cerebrovascular Accident, Acute
CVA (Cerebrovascular Accident)
Cerebral Stroke
Stroke, Acute
Cerebrovascular Stroke
Fabry Disease
Anderson-Fabry Disease
Fabry's Disease

Additional relevant MeSH terms:
Stroke
Fabry Disease
Cerebrovascular Disorders
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Vascular Diseases
Cardiovascular Diseases
Sphingolipidoses
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Cerebral Small Vessel Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipidoses
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders