SUSAC: Examination of suitable biomarkers in patients with Susac's syndrome and suitable control individuals

Study Description:
Susac's syndrome is a rare disease affecting the brain, the retina of the eye and the inner ear. This leads, among other things, to cognitive impairments, personality changes, paralytic symptoms, impaired vision and reductions of hearing. The precise cause of Susac's syndrome is not known. In this research project, the intention is firstly to find biomarkers that enable a reliable diagnosis of Susac's syndrome and differentiation from other, usually much more frequent disease. The second aim is to improve knowledge and understanding of the fundamental harmful processes. A certain diagnosis and a better understanding of the harmful mechanisms are ultimately the key to an effective treatment. Participation is open to all patients in whom Susac's syndrome has been ascertained or supposed.

Principle Investigator: Dr. Jan Dörr (WG Clinical Neuroimmunology, NCRC)

Registration: The study is registered in clinicaltrials.gov (NCT01273792)

Course of the study: 11/2012

Publications:
Jarius, S., I. Kleffner, J. M. Dorr, J. Sastre-Garriga, Z. Illes, E. Eggenberger, C. Chalk, M. Ringelstein, O. Aktas, X. Montalban, K. Fechner, W. Stocker, E. B. Ringelstein, F. Paul, and B. Wildemann. "Clinical, Paraclinical and Serological Findings in Susac Syndrome: An International Multicenter Study." J Neuroinflammation 11 (Mar 08 2014): 46. http://dx.doi.org/10.1186/1742-2094-11-46. Link.

Brandt, A. U., H. Zimmermann, F. Kaufhold, J. Promesberger, S. Schippling, D. Finis, O. Aktas, C. Geis, M. Ringelstein, E. B. Ringelstein, H. P. Hartung, F. Paul, I. Kleffner, and J. Dorr. "Patterns of Retinal Damage Facilitate Differential Diagnosis between Susac Syndrome and Ms." PLoS One 7, no. 6 (2012): e38741. http://dx.doi.org/10.1371/journal.pone.0038741. Link.

Wuerfel, J., T. Sinnecker, E. B. Ringelstein, S. Jarius, W. Schwindt, T. Niendorf, F. Paul, I. Kleffner, and J. Dorr. "Lesion Morphology at 7 Tesla Mri Differentiates Susac Syndrome from Multiple Sclerosis." Mult Scler 18, no. 11 (Nov 2012): 1592-9. http://dx.doi.org/10.1177/1352458512441270. Link.

Dorr, J., S. Krautwald, B. Wildemann, S. Jarius, M. Ringelstein, T. Duning, O. Aktas, E. B. Ringelstein, F. Paul, and I. Kleffner. "Characteristics of Susac Syndrome: A Review of All Reported Cases." Nat Rev Neurol 9, no. 6 (Jun 2013): 307-16. http://dx.doi.org/10.1038/nrneurol.2013.82. Link.