Susac Syndrome
Conditions
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.
Interventions
None listed
Sponsors
Charite University, Berlin, Germany
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
* adult male and female patients with definite Susac syndrome or matching healthy control subjects * ability to provide informed consent
Exclusion criteria
* pregnancy
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| disease specific patterns of pathology on cranial MRI | — | one-time cranial MRI |
| disease specific patterns of pathology in optical coherence tomography | — | one time optical coherence tomography |
| serological biomarkers | not defined, cross-sectional analysis | — |
Countries
Germany
Contacts
Primary ContactJan M Dörr, MD
Outcome results
None listed