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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT00413595
Recruitment Status : Recruiting
First Posted : December 20, 2006
Last Update Posted : August 16, 2018
Shire Human Genetic Therapies, Inc.
Information provided by (Responsible Party):
Anton Mamin, Centogene AG Rostock

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.

Condition or disease Intervention/treatment
Fabry Disease Cerebrovascular Accident 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
Estimated Enrollment : 100 participants
Observational Model: Cohort
Time Perspective: 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
Study Start Date : July 2007
Estimated Primary Completion Date : June 2019
Estimated Study Completion Date : June 2019

Group/Cohort Intervention/treatment
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.

Primary Outcome Measures :
  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 Outcome Measures :
  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 ]

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.

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 55 Years   (Adult)
Sexes Eligible for Study:   All
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.

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00413595

Contact: Arndt Rolfs, Prof., MD 49-381-494 ext -9540
Contact: Sabine Rösner 49-381-494 ext -4797

Universitätsklinikum für Neurologie Recruiting
Graz, Austria, A-8036
Contact: Franz Fazekas, Prof., MD    +43-316-385- ext -2981   
Contact: Gabriele Schrotter, MD    +43-316-385- ext -80424   
Principal Investigator: Franz Fazekas, Prof., MD         
Sub-Investigator: Gabriele Schrotter, MD         
Sub-Investigator: Barbara Ebenbauer, MD         
Department of Neurology, University Hospital Sestre Milosrdnice Recruiting
Zagreb, Croatia, 10000
Contact: Vida Demarin, Prof. MD    +385-13-787- ext -740   
Contact: Marijana Bosnar-Puretic, MD    +385-91-554- ext -740   
Principal Investigator: Vida Demarin, Prof. MD         
Sub-Investigator: Marijana Bosnar-Puretic, MD         
Hopital Neurologique de Lyon, Service d'urgences Neurovasculaires Recruiting
Lyon, France, F-69003
Contact: Laurent Derex, MD    +33-472-357- ext -809   
Principal Investigator: Laurent Derex, MD         
Department of Neurology, S. Khechinashvili University clinic of Tbilisi state medical university Recruiting
Tbilisi, Georgia, 0179
Contact: Marina Janelidze, Prof. MD    +995-322-268- ext -04   
Contact: Maia Beridze, Prof. MD    +995-322-268- ext -04   
Principal Investigator: Marina Janelidze, Prof. MD         
Sub-Investigator: Maia Beridze, Prof. MD         
Department of Neurology, Klinikum Hohe Warte Recruiting
Bayreuth, Germany, 95445
Contact: Patrick Oschmann, Prof., MD    +49-921-400- ext -4602   
Contact: Michael Pott, MD    +49-921-400- ext -4602   
Principal Investigator: Patrick Oschmann, Prof., MD         
Sub-Investigator: Michael Pott, MD         
Charite Campus Benjamin Franklin, Dept. of Neurology Recruiting
Berlin, Germany, D-12200
Contact: Gerhard J. Jungehülsing, MD    +49-30-8445-64- ext -4088   
Contact: Wolf Schmidt, MD    +49-30-8445- ext -4101   
Principal Investigator: Gerhard J. Jungehülsing, MD         
Sub-Investigator: Wolf Schmidt, MD         
Department of Neurology, Allgemeines Krankenhaus Celle Recruiting
Celle, Germany, 29223
Contact: Wolfgang Heide, Prof. MD    +49-5141-72- ext -1400   
Contact: Oliver Pape, MD    +49-5141-72- ext -6489   
Principal Investigator: Wolfgang Heide, Prof. MD         
Sub-Investigator: Oliver Pape, MD         
Department of Neurology, Klinikum Chemnitz gGmbH Recruiting
Chemnitz, Germany, 09131
Contact: Juergen Klingelhoefer, Prof. MD    +49-371-333- ext -10530   
Contact: Sebastian Schwarz, MD    49-371-333- ext -12344   
Principal Investigator: Juergen Klingelhoefer, Prof. MD         
Sub-Investigator: Sebastian Schwarz, MD         
Department of Neurology, Universitaetsklinikum Carl Gustav Carus Recruiting
Dresden, Germany, 01307
Contact: Heinz Reichmann, Prof. MD    +49-351-458- ext -3565   
Principal Investigator: Heinz Reichmann, Prof. MD         
Sub-Investigator: Hjördis Hentschel, MD         
Heinrich-Heine-University Duesseldorf, Dept. of Neurology Recruiting
Duesseldorf, Germany, D-40225
Contact: Sebastian Jander, Prof., MD    +49-211-811- ext -8978   
Contact: Christina Boettcher    +49-211-811- ext -18465   
Principal Investigator: Sebastian Jander, Prof., MD         
Sub-Investigator: Christina Boettcher         
University of Giessen-Marburg Dept. of Neurology Recruiting
Giessen, Germany, D-35385
Contact: Manfred Kaps, Prof., MD    +49-641-994- ext -5300   
Contact: Christian Tanislav, MD    +49-641-994- ext -5316   
Principal Investigator: Manfred Kaps, Prof., MD         
Sub-Investigator: Christian Tanislav, MD         
Sub-Investigator: Jens Allendoerfer, MD         
Department of Neurology, Universitaetsklinikum Hamburg-Eppendorf Recruiting
Hamburg, Germany, 20246
Contact: Michael Rosenkranz, MD    +49-40-42803- ext -4730   
Contact: Anna C Krützelmann, MD    +49-40-42803- ext -9824   
Principal Investigator: Michael Rosenkranz, MD         
Sub-Investigator: Anna C. Krützelmann, MD         
Department of Neurology, Universitaetsklinikum Jena Recruiting
Jena, Germany, 07740
Contact: Otto W. Witte, Prof. MD    +49-3641-932- ext -3401   
Contact: Dirk Brämer, MD    +49-3641-935- ext -266   
Principal Investigator: Otto Witte, Prof. MD         
Sub-Investigator: Dirk Brämer, MD         
Sub-Investigator: Albrecht Günther, MD         
Department of Neurology, Universitaetsklinikum Leipzig Recruiting
Leipzig, Germany, 04103
Contact: Dietmar Schneider, Prof. MD    +49-341-9724- ext -221   
Contact: Dominik Michalski, MD    +49-341-9724- ext -206   
Principal Investigator: Dietmar Schneider, Prof. MD         
Sub-Investigator: Dominik Michalski, MD         
Sub-Investigator: Wolfgang Kloppig, MD         
Dept. of Neurology, Ökumenisches Hainich Klinikum gGmbH Recruiting
Mühlhausen, Germany, 99974
Contact: Marek Jauß, PD MD    +49-3601-803- ext -456   
Principal Investigator: Marek Jauß, PD MD         
Sub-Investigator: Felicita Sojka, MD         
Sub-Investigator: Lars Adam, MD         
Ludwig-Maximilians-University of Munich, Klinikum München-Großhadern, Dept. of Neurology Recruiting
München, Germany, D-81377
Contact: Martin Dichgans, Prof., MD    +49-89-7095- ext -6670   
Contact: Anna Karpinska, MD    +49-89-7095- ext -6672   
Principal Investigator: Martin Dichgans, Prof., MD         
Sub-Investigator: Anna Karpinska, MD         
Department of Neurology, University Tuebingen Recruiting
Tuebingen, Germany, 72076
Contact: Arthur Melms, Prof. MD    +49-7071-29- ext -82057   
Contact: Karl Horber    +49-7071-29- ext -82051   
Principal Investigator: Arthur Melms, Prof., MD         
Sub-Investigator: Karl Horber         
University of Ulm, Department of Neurology Recruiting
Ulm, Germany, D-89081
Contact: Albert Ludolph, Prof., MD    +49-731-177- ext -1201   
Contact: Roman Huber, MD    +49-731-177- ext -5222   
Principal Investigator: Albert Ludolph, Prof., MD         
Sub-Investigator: Roman Huber, MD         
Institute of Psychiatry and Neurology, Dept. of Neurology Recruiting
Warsaw, Poland, 02-957
Contact: Anna Czlonkowska, Prof. MD    +48-22-842- ext -7683   
Contact: Beata Hyzorek-Bazejewska, MD    +48-22-842- ext -7683   
Principal Investigator: Anna Czlonkowska, Prof. MD         
Sub-Investigator: Beata Hyzorek-Bazejewska, MD         
Sub-Investigator: Anna Baranowska, MD         
Centro Hospitalar de Lisboa Central, Servico de Neurologia Recruiting
Lisboa, Portugal, 1150-199
Contact: Alexandre Amaral e Silva, MD    +351-21-8841- ext -303   
Contact: Joacquim Machado Candido, MD    +351-21-8841- ext -855   
Sub-Investigator: Alexandre Amaral e Silva, MD         
Principal Investigator: Joacquim Machado Candido, MD         
Sponsors and Collaborators
Centogene AG Rostock
Shire Human Genetic Therapies, Inc.
Principal Investigator: Arndt Rolfs, Prof., MD University of Rostock, Albrecht-Kossel-Institute for Neuroregeneration

Additional Information:
Responsible Party: Anton Mamin, Dr., Centogene AG Rostock Identifier: NCT00413595     History of Changes
Other Study ID Numbers: II PV04/2006
First Posted: December 20, 2006    Key Record Dates
Last Update Posted: August 16, 2018
Last Verified: August 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Keywords provided by Anton Mamin, Centogene AG Rostock:
Cerebrovascular Accident
Cerebrovascular Accident, Acute
Fabry Disease
Fabry's Disease
Anderson-Fabry Disease
CVA (Cerebrovascular Accident)
Stroke, acute
Cerebral Stroke

Additional relevant MeSH terms:
Fabry Disease
Cerebrovascular Disorders
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Vascular Diseases
Cardiovascular Diseases
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Cerebral Small Vessel Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders