Cerebrovascular Accident, Fabry Disease
Conditions
Keywords
Cerebrovascular Accident, Cerebrovascular Accident, Acute, Fabry Disease, Fabry's Disease, Anderson-Fabry Disease, CVA (Cerebrovascular Accident), Stroke, acute, Cerebral Stroke
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.
Interventions
OTHERNo intervention
Observational, epidemiological, prognosis study; no drug tested; only laboratory analysis and diagnostic interventions done.
Sponsors
Shire Human Genetic Therapies, Inc.
CENTOGENE GmbH Rostock
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 55 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | 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
| Measure | Time frame |
|---|---|
| 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 |
| Quality of Life measured with the SF-36 | 54 months study duration |
| 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 |
| Rostocker Kopfschmerzfragen-Komplex (RoKoKo) (only in Austria and Germany) | 54 months study period |
Countries
Austria, Croatia, France, Georgia, Germany, Poland, Portugal
Outcome results
None listed