Stroke in Young Fabry Patients (sifap1): Frequency of Fabry Disease in Young Stroke Patients - Full Text View

Sponsor:	University of Rostock
Collaborator:	Shire Human Genetic Therapies, Inc.
Information provided by:	University of Rostock
ClinicalTrials.gov Identifier:	NCT00414583

Purpose

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	Intervention
Cerebrovascular Accident	Other: No intervention

Study Type:	Observational
Study Design:	Cohort, 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

Resource links provided by NLM:

Genetics Home Reference related topics: Chanarin-Dorfman syndrome cholesteryl ester storage disease Fabry disease Farber lipogranulomatosis primary carnitine deficiency succinic semialdehyde dehydrogenase deficiency

U.S. FDA Resources

Further study details as provided by University of Rostock:

Primary Outcome Measures:

Prevalence of Fabry disease in the unselected group of young stroke patients [ Time Frame: Assessment of prevalence is done at study entry ] [ Designated as safety issue: No ]

Secondary Outcome Measures:

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: at screening visit ] [ Designated as safety issue: No ]

Biospecimen Retention: Samples With DNA

Biospecimen Description:

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.

Estimated Enrollment:	5000
Study Start Date:	January 2008
Estimated Study Completion Date:	December 2009
Estimated Primary Completion Date:	December 2009 (Final data collection date for primary outcome measure)

Groups/Cohorts	Assigned Interventions
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

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

Ages Eligible for Study:	18 Years to 55 Years
Genders Eligible for Study:	Both
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

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00414583

Contacts

Contact: Arndt Rolfs, Prof., MD	+49-381-494- ext -9540	arndt.rolfs@med.uni-rostock.de
Contact: Sabine Rösner	+49-381-494- ext -4797	sabine.roesner@med.uni-rostock.de

Show 45 Study Locations

Sponsors and Collaborators

University of Rostock

Shire Human Genetic Therapies, Inc.

Investigators

Principal Investigator:

Arndt Rolfs, Prof., MD

University of Rostock, Department of Neurology

More Information

Additional Information:

study homepage This link exits the ClinicalTrials.gov site

Publications:

Rolfs A, Bottcher T, Zschiesche M, Morris P, Winchester B, Bauer P, Walter U, Mix E, Lohr 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.

Responsible Party:	University of Rostock ( Prof. Dr. med. Arndt Rolfs )
Study ID Numbers:	II PV 03/2006
Study First Received:	December 19, 2006
Last Updated:	February 5, 2010
ClinicalTrials.gov Identifier:	NCT00414583 History of Changes
Health Authority:	Germany: Ethics Commission; France: Institutional Ethical Committee

Keywords provided by 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:

Lipid Metabolism, Inborn Errors
Sphingolipidoses
Metabolic Diseases
Cerebral Infarction
Lysosomal Storage Diseases, Nervous System
Lysosomal Storage Diseases
Stroke
Nervous System Diseases
Vascular Diseases
Central Nervous System Diseases
Brain Diseases
Cerebrovascular Disorders

Metabolism, Inborn Errors
Genetic Diseases, Inborn
Fabry Disease
Genetic Diseases, X-Linked
Brain Ischemia
Cardiovascular Diseases
Brain Infarction
Lipidoses
Brain Diseases, Metabolic, Inborn
Lipid Metabolism Disorders
Brain Diseases, Metabolic

ClinicalTrials.gov processed this record on February 08, 2010