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

Recruiting

Phase N/A Results N/A

Trial Description

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.

Conditions

Interventions

  • No intervention Behavioral
    Intervention Desc: Observational, epidemiological, prognosis study; no drug tested; only laboratory analysis and diagnostic interventions done.
    ARM 1: Kind: Experimental
    Label: Observation
    Description: 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

Trial Design

  • Observation: Cohort
  • Perspective: Prospective
  • Sampling: Probability Sample

Trial 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.

Patient Involvement

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.

Outcomes

Type Measure Time Frame Safety Issue
Primary Determination of the relapse rate of acute cerebrovascular events with clinical relevance in patients with different prophylactic approaches
Secondary Number of acute CVEs without clinical significance but with obvious signs in MRI diagnosis; Quality of Life measured with the SF-36; Beck Depression Inventory II (BDI II); Brief Pain Inventory (BPI); Rostocker Kopfschmerzfragen-Komplex (RoKoKo) (only in Austria and Germany); Habi test (only in Austrian and German centers). Trail Making Test (TMT) [ Time Frame: 54 months study duration ] [ Designated as safety issue: No ] Functional neurological deficits measured by the Mini Mental State Examination (MMSE) [ Time Frame: 54 months study duration ] [ Designated as safety issue: No ]
Secondary Number of acute CVEs without clinical significance but with obvious signs in MRI diagnosis 54 months study duration No
Secondary Quality of Life measured with the SF-36 54 months study duration No
Secondary Beck Depression Inventory II (BDI II) 54 months study duration No
Secondary Brief Pain Inventory (BPI) 54 months study duration No
Secondary Rostocker Kopfschmerzfragen-Komplex (RoKoKo) (only in Austria and Germany) 54 months study period No
Secondary Habi test (only in Austrian and German centers) 54 months study duration No
Secondary Trail Making Test (TMT) 54 months study duration No
Secondary Functional neurological deficits measured by the Mini Mental State Examination (MMSE) 54 months study duration No

Biospecimen Retention:Samples With DNA - EDTA-blood and urine sample for central laboratory analysis of agalsidase antibodies and Gb3 for safety issues. There will be a proteomic analysis in blood to check whether there will be the possibility to characterize a biomarker for Fabry disease.

Sponsors