Investigation of Biomarkers in Susac Syndrome
- Conditions
- Susac Syndrome
- Registration Number
- NCT01273792
- Lead Sponsor
- Charite University, Berlin, Germany
- Brief Summary
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
- Detailed Description
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.
Recruitment & Eligibility
- Status
- UNKNOWN
- Sex
- All
- Target Recruitment
- 30
- adult male and female patients with definite Susac syndrome or matching healthy control subjects
- ability to provide informed consent
- pregnancy
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method disease specific patterns of pathology in optical coherence tomography one time optical coherence tomography
serological biomarkers not defined, cross-sectional analysis disease specific patterns of pathology on cranial MRI one-time cranial MRI
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
NeuroCure Clinical Reserach Center, Charité Universitaetsmedizin
🇩🇪Berlin, Germany