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

• Sponsor: CENTOGENE GmbH Rostock (Industry)
• Overall Status: Completed
• CT.gov ID: NCT00414583
• Collaborator: Shire Human Genetic Therapies, Inc. (Industry)
• Enrollment: 5,000
• Locations: 45
• Actual Duration (Months): 24
• Patients Per Site: 111.1
• Patients Per Site Per Month: 4.6

Study Details

Study Description

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	Phase
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 Design

• 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
• Actual Study Start Date: Jan 1, 2008
• Actual Primary Completion Date: Jan 1, 2010
• Actual Study Completion Date: Jan 1, 2010

Arms and Interventions

Arm	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 Names: only 1 observational group

Outcome Measures

Primary Outcome Measures

1. Prevalence of Fabry disease in the unselected group of young stroke patients [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. [baseline]

Eligibility Criteria

Criteria

• Ages Eligible for Study: 18 Years to 55 Years
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Universitätsklinikum für Neurologie	Graz		Austria	A-8036
2	Department of Neurology, Universitaetsklinik fuer Neurologie Innsbruck	Innsbruck		Austria	6020
3	Wagner-Jauregg Linz, Department of Neurology	Linz		Austria	A-4020
4	Christian-Doppler-Klinik, Department für medizin. Studien	Salzburg		Austria	5020
5	Krankenhaus der Barmherzigen Brüder, Abteilung für Neurologie	Wien		Austria	1020
6	Middelheim General Hospital, Dept. of Neurology/Memory Clinic	Antwerp		Belgium	2020
7	UZ Gasthuisburg Hospital	Leuven		Belgium	3000
8	Department of Neurology, University Hospital Sestre Milosrdnice	Zagreb		Croatia	10000
9	Helsinki University Central Hospital, Department of Neurology	Helsinki		Finland	00290
10	Hopital Neurologique de Lyon, Service d'urgences Neurovasculaires	Lyon		France	F-69003
11	Department of Neurology, S. Khechinashvili University clinic of Tbilisi state medical university	Tblisi		Georgia	0179
12	Department of Neurology, Kreiskrankenhaus Altenburg	Altenburg		Germany	04600
13	Department of Neurology, Klinikum Hohe Warte	Bayreuth		Germany	95445
14	Dept. of Neurology, Vivantes Netzwerk für Gesundheit GmbH, Klinikum Neukölln	Berlin		Germany	12351
15	Charite Campus Benjamin Franklin, Dept. of Neurology	Berlin		Germany	D-12200
16	Klinikum Bremen Mitte gGmbH, Neurologische Klinik	Bremen		Germany	28177
17	Department of Neurology, Allgemeines Krankenhaus Celle	Celle		Germany	29223
18	Department of Neurology, Klinikum Chemnitz gGmbH	Chemnitz		Germany	09131
19	Department of Neurology, Universitaetsklinikum Carl Gustav Carus	Dresden		Germany	01307
20	Heinrich-Heine University Duesseldorf, Dept. of Neurology	Duesseldorf		Germany	D-40225
21	Dept. of Neurology, Johann-Wolfgang-Goethe-Universität	Frankfurt		Germany	60528
22	University of Giessen-Marburg Dept. of Neurology	Giessen		Germany	D-35385
23	Department of Neurology, Ernst-Moritz-Arndt-University	Greifswald		Germany	17489
24	Dept. of Neurology, Martin-Luther-Universität, Universitätsklinik und Poliklinik für Neurologie	Halle (Saale)		Germany	06120
25	Department of Neurology S10, Universitaetsklinikum Hamburg-Eppendorf	Hamburg		Germany	20246
26	University of Heidelberg, Department of Neurology	Heidelberg		Germany	D-69120
27	Department of Neurology, Universitaetsklinikum Jena	Jena		Germany	07740
28	University Schleswig-Holstein, Dept. of Neurology	Kiel		Germany	D-24105
29	Department of Neurology, Universitaetsklinikum Leipzig	Leipzig		Germany	04103
30	Department of Neurology, Universitaetsklinikum Giessen und Marburg GmbH	Marburg		Germany	35039
31	University of Muenster, Dept. of Neurology	Muenster		Germany	D-48149
32	Dept. of Neurology, Ökumenisches Hainich Klinikum gGmbH	Mühlhausen		Germany	99974
33	Ludwig-Maximilians-University of Munich, Dept. of Neurology	München		Germany	D-81377
34	Department of Neurology, Klinik und Poliklinik fuer Neurologie	Regensburg		Germany	93053
35	University of Rostock, Department of Neurology	Rostock		Germany	D-18055
36	Department of Neurology, University Tuebingen	Tuebingen		Germany	72076
37	University of Ulm, Department of Neurology	Ulm		Germany	D-89081
38	The Adelaide and Meath Hospital, Department of Neurology	Dublin		Ireland	24
39	Dept. of Neurology, Ospoedale Maggiore Policlinico	Milan		Italy	20122
40	Neuromedical Ward, Mater Dei Hospital	Msida		Malta
41	Institute of Psychiatry and Neurology, Dept. of Neurology	Warsaw		Poland	02-957
42	Centro Hospitalar de Lisboa Central, Servico de Neurologia	Lisboa		Portugal	1150-199
43	Department of Neurology, Hospital Universitario La Paz	Madrid		Spain	28046
44	Stroke Prevention Research Unit, Dept. of Clinical Neurology, University of Glasgow, Southern General Hospital	Glasgow	Scotland	United Kingdom	G51 4TF
45	Stroke Prevention Research Unit, John Radcliffe Hospital	Oxford		United Kingdom	OX39DU

Sponsors and Collaborators

• CENTOGENE GmbH Rostock
• Shire Human Genetic Therapies, Inc.

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Additional Information:

• study homepage

Publications

• Rolfs A, Böttcher T, Zschiesche M, Morris P, Winchester B, Bauer P, Walter U, Mix E, Löhr M, Harzer K, Strauss U, Pahnke J, Grossmann A, Benecke R. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet. 2005 Nov 19;366(9499):1794-6. Erratum in: Lancet. 2006 Dec 23;368(9554):2210.
• Rolfs A, Martus P, Heuschmann PU, Grittner U, Holzhausen M, Tatlisumak T, Böttcher T, Fazekas F, Enzinger C, Ropele S, Schmidt R, Riess O, Norrving B; sifap1 Investigators. Protocol and methodology of the Stroke in Young Fabry Patients (sifap1) study: a prospective multicenter European study of 5,024 young stroke patients aged 18-55 years. Cerebrovasc Dis. 2011;31(3):253-62. doi: 10.1159/000322153. Epub 2010 Dec 21.

• Responsible Party: CENTOGENE GmbH Rostock
• ClinicalTrials.gov Identifier: NCT00414583
• Other Study ID Numbers: II PV03/2006
• First Posted: Dec 21, 2006
• Last Update Posted: Apr 9, 2021
• Last Verified: Apr 1, 2020

• Keywords provided by CENTOGENE GmbH 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

Study Results

No Results Posted as of Apr 9, 2021