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

NCT00413595 | Completed DMC

• 1 other identifier: II PV04/2006
• Study Type: observational
• Target: 100
• Locations: 7 countries
• Sites: 20

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.

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

Outcome Measures

Primary Outcomes (1)

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

  54 months study duration

Secondary Outcomes (8)

• Quality of Life measured with the SF-36

  54 months study duration

• 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

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

  54 months study period

Study Arms (1)

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

Interventions

No intervention OTHER

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

Observation

Eligibility Criteria

• Age: 18 Years - 55 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64)
• 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.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• CENTOGENE GmbH Rostock: lead
• Shire Human Genetic Therapies, Inc.: collaborator

Study Sites (20)

Universitätsklinikum für Neurologie

Graz, A-8036, Austria

Location

Department of Neurology, University Hospital Sestre Milosrdnice

Zagreb, 10000, Croatia

Location

Hopital Neurologique de Lyon, Service d'urgences Neurovasculaires

Lyon, F-69003, France

Location

Department of Neurology, S. Khechinashvili University clinic of Tbilisi state medical university

Tbilisi, 0179, Georgia

Location

Department of Neurology, Klinikum Hohe Warte

Bayreuth, 95445, Germany

Location

Charite Campus Benjamin Franklin, Dept. of Neurology

Berlin, D-12200, Germany

Location

Department of Neurology, Allgemeines Krankenhaus Celle

Celle, 29223, Germany

Location

Department of Neurology, Klinikum Chemnitz gGmbH

Chemnitz, 09131, Germany

Location

Department of Neurology, Universitaetsklinikum Carl Gustav Carus

Dresden, 01307, Germany

Location

Heinrich-Heine-University Duesseldorf, Dept. of Neurology

Düsseldorf, D-40225, Germany

Location

University of Giessen-Marburg Dept. of Neurology

Giessen, D-35385, Germany

Location

Department of Neurology, Universitaetsklinikum Hamburg-Eppendorf

Hamburg, 20246, Germany

Location

Department of Neurology, Universitaetsklinikum Jena

Jena, 07740, Germany

Location

Department of Neurology, Universitaetsklinikum Leipzig

Leipzig, 04103, Germany

Location

Dept. of Neurology, Ökumenisches Hainich Klinikum gGmbH

Mühlhausen, 99974, Germany

Location

Ludwig-Maximilians-University of Munich, Klinikum München-Großhadern, Dept. of Neurology

München, D-81377, Germany

Location

Department of Neurology, University Tuebingen

Tübingen, 72076, Germany

Location

University of Ulm, Department of Neurology

Ulm, D-89081, Germany

Location

Institute of Psychiatry and Neurology, Dept. of Neurology

Warsaw, 02-957, Poland

Location

Centro Hospitalar de Lisboa Central, Servico de Neurologia

Lisbon, 1150-199, Portugal

Location

Related Publications (1)

• 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.

  PMID: 16298216 BACKGROUND

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.

MeSH Terms

Conditions

Fabry Disease; Stroke

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Arndt Rolfs, Prof., MD

  University of Rostock, Albrecht-Kossel-Institute for Neuroregeneration

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 19, 2006
• First Posted: December 20, 2006
• Study Start: July 1, 2007
• Primary Completion: December 1, 2019
• Study Completion: December 1, 2019
• Last Updated: April 12, 2021

Record last verified: 2020-04

Locations

PT (1); CR (1); PL (1); FR (1); GE (1); DE (14); AU (1)