Investigation of Biomarkers in Susac Syndrome
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Purpose
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
| Condition |
|---|
|
Susac Syndrome |
| Study Type: | Observational |
| 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)
| Estimated Enrollment: | 30 |
| 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) |
| Groups/Cohorts |
|---|
| Patients with Susac syndrome |
| Matched healthy controls |
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.
Eligibility| Ages Eligible for Study: | 18 Years and older |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | Yes |
| Sampling Method: | Probability Sample |
patients with Susac syndrome (male/female; healthy control subjects
Inclusion Criteria:
- adult male and female patients with definite Susac syndrome or matching healthy control subjects
- ability to provide informed consent
Exclusion Criteria:
- pregnancy
Contacts and Locations| Contact: Jan M Dörr, MD | +49 30 450 ext 660162 | jan-markus.doerr@charite.de |
| Germany | |
| NeuroCure Clinical Reserach Center, Charité Universitaetsmedizin | Recruiting |
| Berlin, Germany, 10117 | |
| Contact: Jan M Dörr, MD +49 30 450 ext 660162 jan-markus.doerr@charite.de | |
| Principal Investigator: Jan M Dörr, MD | |
| Principal Investigator: | Jan M Dörr, MD | NeuroCure Clinical Research Center, Charité Universitaetsmedizin Berlin |
More Information
Publications:
| Responsible Party: | Dr. Jan Dörr, MD, Charité Universitaetsmedizin Berlin, Germany |
| ClinicalTrials.gov Identifier: | NCT01273792 History of Changes |
| Other Study ID Numbers: | Biomarkers Susac Syndrome |
| Study First Received: | January 6, 2011 |
| Last Updated: | February 11, 2013 |
| Health Authority: | Ethics Committee of Charité Universitaetsmedizin Berlin, Germany: |
Additional relevant MeSH terms:
|
Susac Syndrome Ear Diseases Otorhinolaryngologic Diseases Cerebrovascular Disorders Brain Diseases Central Nervous System Diseases Nervous System Diseases Neurologic Manifestations Retinal Artery Occlusion |
Retinal Diseases Eye Diseases Vision Disorders Arterial Occlusive Diseases Vascular Diseases Cardiovascular Diseases Eye Manifestations Signs and Symptoms |
ClinicalTrials.gov processed this record on May 22, 2013