Clinical trial NCT00413595: Stroke in Young Fabry Patients (sifap2): Characterization of the Stroke Rehabilitation
Official title: Stroke in Young Fabry Patients (sifap2): Characterization of the Stroke Rehabilitation in Young Patients With Fabry Disease: An Epidemiological, International, Multicenter Prognosis Study
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Fabry Disease
Cerebrovascular Accident
Keywords: Cerebrovascular Accident
Cerebrovascular Accident, Acute
Fabry Disease
Fabry's Disease
Anderson-Fabry Disease
CVA (Cerebrovascular Accident)
Stroke, acute
Cerebral Stroke
Lead sponsor: CENTOGENE GmbH Rostock
Sponsor class: INDUSTRY
Collaborators: name: Shire Human Genetic Therapies, Inc.
First posted: 2006-12-20
Enrollment: 100
Sex: ALL
Minimum age (years): 18
Maximum age (years): 55
Standard ages: ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: 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 and genetic diagnosis (a-galactosidase defect) of Fabry disease.

Brief summary: 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: 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.

Eligibility criteria: 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

Primary outcomes:
measure: Determination of the relapse rate of acute cerebrovascular events with clinical relevance in patients with different prophylactic approaches
timeFrame: 54 months study duration
Secondary outcomes:
measure: Quality of Life measured with the SF-36
timeFrame: 54 months study duration
measure: Number of acute CVEs without clinical significance but with obvious signs in MRI diagnosis
timeFrame: 54 months study duration
measure: Beck Depression Inventory II (BDI II)
timeFrame: 54 months study duration
measure: Brief Pain Inventory (BPI)
timeFrame: 54 months study duration
measure: Rostocker Kopfschmerzfragen-Komplex (RoKoKo) (only in Austria and Germany)
timeFrame: 54 months study period
measure: Habi test (only in Austrian and German centers)
timeFrame: 54 months study duration
measure: Trail Making Test (TMT)
timeFrame: 54 months study duration
measure: Functional neurological deficits measured by the Mini Mental State Examination (MMSE)
timeFrame: 54 months study duration
Other outcomes:
Locations:
city: Graz
country: Austria
facility: Universitätsklinikum für Neurologie
city: Zagreb
country: Croatia
facility: Department of Neurology, University Hospital Sestre Milosrdnice
city: Lyon
country: France
facility: Hopital Neurologique de Lyon, Service d'urgences Neurovasculaires
city: Tbilisi
country: Georgia
facility: Department of Neurology, S. Khechinashvili University clinic of Tbilisi state medical university
city: Bayreuth
country: Germany
facility: Department of Neurology, Klinikum Hohe Warte
city: Berlin
country: Germany
facility: Charite Campus Benjamin Franklin, Dept. of Neurology
city: Celle
country: Germany
facility: Department of Neurology, Allgemeines Krankenhaus Celle
city: Chemnitz
country: Germany
facility: Department of Neurology, Klinikum Chemnitz gGmbH
city: Dresden
country: Germany
facility: Department of Neurology, Universitaetsklinikum Carl Gustav Carus
city: Duesseldorf
country: Germany
facility: Heinrich-Heine-University Duesseldorf, Dept. of Neurology
city: Giessen
country: Germany
facility: University of Giessen-Marburg Dept. of Neurology
city: Hamburg
country: Germany
facility: Department of Neurology, Universitaetsklinikum Hamburg-Eppendorf
city: Jena
country: Germany
facility: Department of Neurology, Universitaetsklinikum Jena
city: Leipzig
country: Germany
facility: Department of Neurology, Universitaetsklinikum Leipzig
city: Mühlhausen
country: Germany
facility: Dept. of Neurology, Ökumenisches Hainich Klinikum gGmbH
city: München
country: Germany
facility: Ludwig-Maximilians-University of Munich, Klinikum München-Großhadern, Dept. of Neurology
city: Tuebingen
country: Germany
facility: Department of Neurology, University Tuebingen
city: Ulm
country: Germany
facility: University of Ulm, Department of Neurology
city: Warsaw
country: Poland
facility: Institute of Psychiatry and Neurology, Dept. of Neurology
city: Lisboa
country: Portugal
facility: Centro Hospitalar de Lisboa Central, Servico de Neurologia
Study officials:
affiliation: University of Rostock, Albrecht-Kossel-Institute for Neuroregeneration
name: Arndt Rolfs, Prof., MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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. doi: 10.1016/S0140-6736(05)67635-0.