Skip to main content
OpenTrials
Completed

NCT Number: NCT00413595

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

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.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Fabry Disease Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Cardiovascular Diseases Central Nervous System Diseases Cerebral Small Vessel Diseases Cerebrovascular Accident Cerebrovascular Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities 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

Loading trial locations.

About this study

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.

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 (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

Treatment and study plan

No intervention

Other

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

Primary outcomes

  1. Determination of the relapse rate of acute cerebrovascular events with clinical relevance in patients with different prophylactic approaches

    Time frame: 54 months study duration

Secondary outcomes

  1. Quality of Life measured with the SF-36

    Time frame: 54 months study duration

  2. Number of acute CVEs without clinical significance but with obvious signs in MRI diagnosis

    Time frame: 54 months study duration

  3. Beck Depression Inventory II (BDI II)

    Time frame: 54 months study duration

  4. Brief Pain Inventory (BPI)

    Time frame: 54 months study duration

  5. Rostocker Kopfschmerzfragen-Komplex (RoKoKo) (only in Austria and Germany)

    Time frame: 54 months study period

  6. Habi test (only in Austrian and German centers)

    Time frame: 54 months study duration

  7. Trail Making Test (TMT)

    Time frame: 54 months study duration

  8. Functional neurological deficits measured by the Mini Mental State Examination (MMSE)

    Time frame: 54 months study duration

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

Acronym: sifap2

Important dates

Study start
2007
Primary completion
2019
Study completion
2019
First posted
Dec 20, 2006
Registry last updated
Apr 12, 2021

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

View the official ClinicalTrials.gov record (opens in a new tab)

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.

Related clinical trials

Published trials that share one or more normalized conditions with this study.