Investigation of Biomarkers in 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
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||Investigation of Relevant Biomarkers in Patients With Susac Syndrome|
- 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 ]
Biospecimen Retention: Samples Without DNA
Blood samples (serum, Blood cells)
|Study Start Date:||May 2010|
|Estimated Study Completion Date:||December 2014|
|Estimated Primary Completion Date:||October 2014 (Final data collection date for primary outcome measure)|
|Patients with Susac syndrome|
|Matched healthy controls|
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.
|Contact: Jan M Dörr, MD||+49 30 450 ext email@example.com|
|NeuroCure Clinical Reserach Center, Charité Universitaetsmedizin||Recruiting|
|Berlin, Germany, 10117|
|Contact: Jan M Dörr, MD +49 30 450 ext 660162 firstname.lastname@example.org|
|Principal Investigator: Jan M Dörr, MD|
|Principal Investigator:||Jan M Dörr, MD||NeuroCure Clinical Research Center, Charité Universitaetsmedizin Berlin|