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NCT Number: NCT00414583

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

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.

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Key information

Conditions

Cerebrovascular Accident Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Cardiovascular Diseases Central Nervous System Diseases Cerebral Small Vessel Diseases Cerebrovascular Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Fabry Disease Genetic Diseases, Inborn Genetic Diseases, X-Linked Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Sphingolipidoses Stroke Vascular Diseases

Age range

18 year–55 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Universitätsklinikum für Neurologie, Graz, Austria

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

No intervention

Other

Observational study, only laboratory analysis and diagnostic interventions done; no drug tested

Other names: only 1 observational group

Primary outcomes

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

    Time frame: baseline

Secondary outcomes

  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

Sponsors and collaborators

Lead sponsor

CENTOGENE GmbH Rostock

Industry

Collaborators

  • Shire Human Genetic Therapies, Inc.

Registry information

Official study title

Stroke in Young Fabry Patients (sifap1): Frequency of Fabry Disease in an Unselected Group of Young Stroke Patients: an International, Multicentre Prevalence Study

Acronym: sifap1

Important dates

Study start
2008
Primary completion
2010
Study completion
2010
First posted
Dec 21, 2006
Registry last updated
Apr 9, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

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This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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