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

This study has been completed.
Sponsor:
Collaborator:
Shire Human Genetic Therapies, Inc.
Information provided by:
University of Rostock
ClinicalTrials.gov Identifier:
NCT00414583
First received: December 19, 2006
Last updated: October 10, 2012
Last verified: February 2010
  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: 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

Resource links provided by NLM:


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: baseline ] [ 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: baseline ] [ Designated as safety issue: No ]

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.


Enrollment: 5000
Study Start Date: January 2008
Study Completion Date: January 2010
Primary Completion Date: January 2010 (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
Other Name: only 1 observational group

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

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

Responsible Party: Prof. Dr. med. Arndt Rolfs, University of Rostock
ClinicalTrials.gov Identifier: NCT00414583     History of Changes
Other Study ID Numbers: II PV03/2006
Study First Received: December 19, 2006
Last Updated: October 10, 2012
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:
Fabry Disease
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Cerebrovascular Disorders
Vascular Diseases
Cardiovascular Diseases
Cerebral Infarction
Stroke
Sphingolipidoses
Metabolism, Inborn Errors
Lipidoses
Lipid Metabolism, Inborn Errors
Brain Infarction
Brain Ischemia

ClinicalTrials.gov processed this record on April 16, 2014