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

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

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.

Study Overview

• Status: Completed
• Conditions: Fabry Disease; Cerebrovascular Accident
• Intervention / Treatment: Other: No intervention

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.

• Study Type: Observational
• Enrollment (Anticipated): 100

Contacts and Locations

Study Locations

• Austria
  • Graz, Austria, A-8036
    • Universitätsklinikum für Neurologie
• Croatia
  • Zagreb, Croatia, 10000
    • Department of Neurology, University Hospital Sestre Milosrdnice
• France
  • Lyon, France, F-69003
    • Hopital Neurologique de Lyon, Service d'urgences Neurovasculaires
• Georgia
  • Tbilisi, Georgia, 0179
    • Department of Neurology, S. Khechinashvili University clinic of Tbilisi state medical university
• Germany
  • Bayreuth, Germany, 95445
    • Department of Neurology, Klinikum Hohe Warte
  • Berlin, Germany, D-12200
    • Charite Campus Benjamin Franklin, Dept. of Neurology
  • Celle, Germany, 29223
    • Department of Neurology, Allgemeines Krankenhaus Celle
  • Chemnitz, Germany, 09131
    • Department of Neurology, Klinikum Chemnitz gGmbH
  • Dresden, Germany, 01307
    • Department of Neurology, Universitaetsklinikum Carl Gustav Carus
  • Duesseldorf, Germany, D-40225
    • Heinrich-Heine-University Duesseldorf, Dept. of Neurology
  • Giessen, Germany, D-35385
    • University of Giessen-Marburg Dept. of Neurology
  • Hamburg, Germany, 20246
    • Department of Neurology, Universitaetsklinikum Hamburg-Eppendorf
  • Jena, Germany, 07740
    • Department of Neurology, Universitaetsklinikum Jena
  • Leipzig, Germany, 04103
    • Department of Neurology, Universitaetsklinikum Leipzig
  • Mühlhausen, Germany, 99974
    • Dept. of Neurology, Ökumenisches Hainich Klinikum gGmbH
  • München, Germany, D-81377
    • Ludwig-Maximilians-University of Munich, Klinikum München-Großhadern, Dept. of Neurology
  • Tuebingen, Germany, 72076
    • Department of Neurology, University Tuebingen
  • Ulm, Germany, D-89081
    • University of Ulm, Department of Neurology
• Poland
  • Warsaw, Poland, 02-957
    • Institute of Psychiatry and Neurology, Dept. of Neurology
• Portugal
  • Lisboa, Portugal, 1150-199
    • Centro Hospitalar de Lisboa Central, Servico de Neurologia

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 55 years (Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• 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.

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
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.

What is the study measuring?

Primary Outcome Measures

Outcome 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 Outcome Measures

Outcome Measure	Time Frame
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
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

Collaborators and Investigators

• Sponsor: CENTOGENE GmbH Rostock
• Collaborators: Shire Human Genetic Therapies, Inc.
• Investigators: Principal Investigator: Arndt Rolfs, Prof., MD, University of Rostock, Albrecht-Kossel-Institute for Neuroregeneration

Publications and helpful links

General 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. doi: 10.1016/S0140-6736(05)67635-0. Erratum In: Lancet. 2006 Dec 23;368(9554):2210.

Helpful Links

• Study homepage

Study record dates

Study Major Dates

• Study Start (Actual): July 1, 2007
• Primary Completion (Actual): December 1, 2019
• Study Completion (Actual): December 1, 2019

Study Registration Dates

• First Submitted: December 19, 2006
• First Submitted That Met QC Criteria: December 19, 2006
• First Posted (Estimate): December 20, 2006

Study Record Updates

• Last Update Posted (Actual): April 12, 2021
• Last Update Submitted That Met QC Criteria: April 8, 2021
• Last Verified: April 1, 2020

More Information

Terms related to this study

• Keywords: Cerebrovascular Accident; Fabry Disease; Cerebral Stroke; Cerebrovascular Accident, Acute; Anderson-Fabry Disease; CVA (Cerebrovascular Accident); Fabry's Disease; Stroke, acute
• Additional Relevant MeSH Terms: Cardiovascular Diseases; Vascular Diseases; Metabolic Diseases; Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Cerebral Small Vessel Diseases; Lipidoses; Lipid Metabolism, Inborn Errors; Stroke; Fabry Disease
• Other Study ID Numbers: II PV04/2006

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED