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Investigation of Biomarkers in Susac Syndrome

This study is currently recruiting participants. (see Contacts and Locations)
Verified February 2013 by Charite University, Berlin, Germany
Information provided by:
Charite University, Berlin, Germany Identifier:
First received: January 6, 2011
Last updated: February 11, 2013
Last verified: February 2013

January 6, 2011
February 11, 2013
May 2010
October 2014   (final data collection date for primary outcome measure)
  • disease specific patterns of pathology on cranial MRI [ Designated as safety issue: No ]
    one-time cranial MRI
  • disease specific patterns of pathology in optical coherence tomography [ Designated as safety issue: No ]
    one time optical coherence tomography
  • serological biomarkers [ Time Frame: not defined, cross-sectional analysis ] [ Designated as safety issue: No ]
Same as current
Complete list of historical versions of study NCT01273792 on Archive Site
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Investigation of Biomarkers in Susac Syndrome
Investigation of Relevant Biomarkers in Patients With Susac Syndrome

Susac Syndrome is a rare disease and the establishment of the diagnosis is often difficult. The aim of this investigation is to identify relevant biomarkers and to elucidate the pathogenesis of Susac syndrome

Susac Syndrome is a rare disease characterized by encephalopathy, branch retinal artery occlusion and sensorineural deafness. The pathogenesis is not yet clear, an autoimmune endotheliopathy is discussed. Because of the variable and often incomplete clinical presentation, the establishment of the diagnosis is often delayed or even completely missed.

The aim of this study is to identify biomarkers that facilitate the reliable and prompt establishment of the diagnosis. Patients with a definite diagnosis of Susac syndrome and healthy subjects as controls are investigated.

Furthermore, the correlation of serological markers with structural retinal and cerebral changes will contribute to clarification of the pathogenesis of Susac syndrome.

Observational Model: Cohort
Time Perspective: Prospective
Not Provided
Retention:   Samples Without DNA

Blood samples (serum, Blood cells)

Probability Sample

patients with Susac syndrome (male/female; healthy control subjects

Susac Syndrome
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  • Patients with Susac syndrome
  • Matched healthy controls
Dörr J, Radbruch H, Bock M, Wuerfel J, Brüggemann A, Wandinger KP, Zeise D, Pfueller CF, Zipp F, Paul F. Encephalopathy, visual disturbance and hearing loss-recognizing the symptoms of Susac syndrome. Nat Rev Neurol. 2009 Dec;5(12):683-8.

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
December 2014
October 2014   (final data collection date for primary outcome measure)

Inclusion Criteria:

  • adult male and female patients with definite Susac syndrome or matching healthy control subjects
  • ability to provide informed consent

Exclusion Criteria:

  • pregnancy
18 Years and older
Contact: Jan M Dörr, MD +49 30 450 ext 660162
Biomarkers Susac Syndrome
Dr. Jan Dörr, MD, Charité Universitaetsmedizin Berlin, Germany
Charite University, Berlin, Germany
Not Provided
Principal Investigator: Jan M Dörr, MD NeuroCure Clinical Research Center, Charité Universitaetsmedizin Berlin
Charite University, Berlin, Germany
February 2013

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP