Stroke in Young Fabry Patients (sifap2): Characterization of the Stroke Rehabilitation

Study Overview
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Brief Summary
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New studies indicate that in about 1 - 2 percent of the younger stroke patients the cause could have been an undiagnosed genetic disease, the so called Fabry disease. In this case certain fat molecules are not digested and broken down by the body - but remain in the cells. These fat molecules build up to dangerous levels, which start to damage the body, because they accumulate e.g. in the walls of the blood vessels. This accumulation in the blood vessels of the whole body may cause life-threatening malfunctions in the brain, inducing a stroke. The purpose of this study is to investigate the stroke rehabilitation of Fabry patients during different therapeutic standard approaches for stroke and for Fabry disease (if any). During this study, stroke patients with Fabry disease will be monitored in greater detail to determine whether the differences in treatment are significant for patient recovery and on what they depend.

Detailed Description
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In a group of young stroke patients with diagnosed Fabry disease the stroke rehabilitation will be investigated during different prophylactic therapeutic approaches. In this study the investigator will not be given any instructions on stroke and Fabry therapy. All patients with any etiology of stroke and a diagnosed Fabry disease submitted to the stroke unit of the participating centres which commit to work with the EUSI (European Stroke Initiative) recommendations for stroke management and diagnosis will be included into the study.

Official Title
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Stroke in Young Fabry Patients (sifap2): Characterization of the Stroke Rehabilitation in Young Patients With Fabry Disease: An Epidemiological, International, Multicenter Prognosis Study

Conditions
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Fabry Disease, Cerebrovascular Accident

Intervention / Treatment
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* Other: No intervention


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Adult patients (18 - 55 years of age) with an acute cerebrovascular event (CVE) of any etiology defined as patients having an ischemic stroke or transient ischemic attack Genetic diagnosis (a-galactosidase defect)of Fabry disease Written informed consent from patient Exclusion Criteria: No proven Fabry disease Participating in an other clinical trial with any investigational new drug or medical device Contraindication to any of the diagnostic procedures like e.g. MRI investigation Patient has been pretreated with Enzyme Replacement Therapy at the date of informed consent of sifap2

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 55 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Observation<br>Adult patients (18 - 55 years of age) with an acute cerebrovascular event of any etiology and the genetic diagnosis (a-galactosidase defect) of Fabry disease | Other: No intervention<br>* Observational, epidemiological, prognosis study; no drug tested; only laboratory analysis and diagnostic interventions done.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Determination of the relapse rate of acute cerebrovascular events with clinical relevance in patients with different prophylactic approaches |  | 54 months study duration | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Quality of Life measured with the SF-36 |  | 54 months study duration | 
| Number of acute CVEs without clinical significance but with obvious signs in MRI diagnosis |  | 54 months study duration | 
| Beck Depression Inventory II (BDI II) |  | 54 months study duration | 
| Brief Pain Inventory (BPI) |  | 54 months study duration | 
| Rostocker Kopfschmerzfragen-Komplex (RoKoKo) (only in Austria and Germany) |  | 54 months study period | 
| Habi test (only in Austrian and German centers) |  | 54 months study duration | 
| Trail Making Test (TMT) |  | 54 months study duration | 
| Functional neurological deficits measured by the Mini Mental State Examination (MMSE) |  | 54 months study duration | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Fabry's Disease, Cerebrovascular Accident, Cerebrovascular Accident, Acute, Fabry Disease, Anderson-Fabry Disease, CVA (Cerebrovascular Accident), Stroke, acute, Cerebral Stroke