Stroke in Young Fabry Patients (sifap2): Characterization of the Stroke Rehabilitation - Full Text View

Sponsors and Collaborators:	University of Rostock Shire Human Genetic Therapies, Inc.
Information provided by:	University of Rostock
ClinicalTrials.gov Identifier:	NCT00413595

Purpose

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.

Condition	Intervention
Fabry Disease Cerebrovascular Accident	Other: No intervention

Genetics Home Reference related topics: Chanarin-Dorfman syndrome cholesteryl ester storage disease Fabry disease Farber lipogranulomatosis L1 syndrome long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency mitochondrial trifunctional protein deficiency primary carnitine deficiency succinic semialdehyde dehydrogenase deficiency

MedlinePlus related topics: Rehabilitation

U.S. FDA Resources

Study Type:	Observational
Study Design:	Cohort, Prospective
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

Further study details as provided by University of Rostock:

Primary Outcome Measures:

Determination of the relapse rate of acute cerebrovascular events with clinical relevance in patients with different prophylactic approaches [ Time Frame: 54 months study duration ] [ Designated as safety issue: No ]

Secondary Outcome Measures:

Number of acute CVEs without clinical significance but with obvious signs in MRI diagnosis [ Time Frame: 54 months study duration ] [ Designated as safety issue: No ]
Quality of Life measured with the SF-36 [ Time Frame: 54 months study duration ] [ Designated as safety issue: No ]
Beck Depression Inventory II (BDI II) [ Time Frame: 54 months study duration ] [ Designated as safety issue: No ]
Brief Pain Inventory (BPI) [ Time Frame: 54 months study duration ] [ Designated as safety issue: No ]
Rostocker Kopfschmerzfragen-Komplex (RoKoKo) (only in Austria and Germany) [ Time Frame: 54 months study period ] [ Designated as safety issue: No ]
Habi test (only in Austrian and German centers) [ Time Frame: 54 months study duration ] [ Designated as safety issue: No ]
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 ]

Biospecimen Retention: Samples With DNA

Biospecimen Description:

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.

Estimated Enrollment:	100
Study Start Date:	April 2007
Estimated Study Completion Date:	February 2010
Estimated Primary Completion Date:	February 2010 (Final data collection date for primary outcome measure)

Groups/Cohorts	Assigned Interventions
Observation 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 Observational, epidemiological, prognosis study; no drug tested; only laboratory analysis and diagnostic interventions done.

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

Ages Eligible for Study:	18 Years to 55 Years
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No
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.

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

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00413595

Contacts

Contact: Arndt Rolfs, Prof., MD	49-381-494 ext -9540	arndt.rolfs@med.uni-rostock.de
Contact: Sabine Rösner	49-381-494 ext -4797	sabine.roesner@med.uni-rostock.de

Show 40 Study Locations

Sponsors and Collaborators

University of Rostock

Shire Human Genetic Therapies, Inc.

Investigators

Principal Investigator:

Arndt Rolfs, Prof., MD

University of Rostock, Albrecht-Kossel-Institute for Neuroregeneration

More Information

Additional Information:

Study homepage This link exits the ClinicalTrials.gov site

Publications:

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.

Responsible Party:	University of Rostock ( Prof. Dr. med. Arndt Rolfs )
Study ID Numbers:	II PV 04/2006
Study First Received:	December 19, 2006
Last Updated:	February 13, 2009
ClinicalTrials.gov Identifier:	NCT00413595 History of Changes
Health Authority:	Germany: Ethics Commission; France: Institutional Ethical Committee

Keywords provided by University of Rostock:

Cerebrovascular Accident
Cerebrovascular Accident, Acute
Fabry Disease
Fabry's Disease

Anderson-Fabry Disease
CVA (Cerebrovascular Accident)
Stroke, acute
Cerebral Stroke

Study placed in the following topic categories:

Lipid Metabolism, Inborn Errors
Sphingolipidoses
Cerebral Infarction
Brain Diseases
Cerebrovascular Disorders
Metabolism, Inborn Errors
Fabry Disease
Genetic Diseases, X-Linked
Brain Ischemia
Brain Diseases, Metabolic, Inborn
Metabolic Disorder
Metabolic Diseases
Lysosomal Storage Diseases

Stroke
Vascular Diseases
Central Nervous System Diseases
Sphingolipidosis
Ischemia
Genetic Diseases, Inborn
Ceramide Trihexosidosis
Lipidoses
Brain Infarction
Infarction
Brain Diseases, Metabolic
Lipid Metabolism Disorders

Additional relevant MeSH terms:

Lipid Metabolism, Inborn Errors
Sphingolipidoses
Metabolic Diseases
Cerebral Infarction
Lysosomal Storage Diseases, Nervous System
Lysosomal Storage Diseases
Stroke
Nervous System Diseases
Vascular Diseases
Central Nervous System Diseases
Brain Diseases
Cerebrovascular Disorders

Metabolism, Inborn Errors
Genetic Diseases, Inborn
Fabry Disease
Genetic Diseases, X-Linked
Brain Ischemia
Cardiovascular Diseases
Brain Infarction
Lipidoses
Brain Diseases, Metabolic, Inborn
Lipid Metabolism Disorders
Brain Diseases, Metabolic

ClinicalTrials.gov processed this record on May 07, 2009