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Investigation of Biomarkers in Susac Syndrome

This study is currently recruiting participants. (see Contacts and Locations)
Verified April 2017 by Charite University, Berlin, Germany
Information provided by (Responsible Party):
Jan-Markus Dörr, Charite University, Berlin, Germany Identifier:
First received: January 6, 2011
Last updated: April 13, 2017
Last verified: April 2017
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

Susac Syndrome

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Investigation of Relevant Biomarkers in Patients With Susac Syndrome

Resource links provided by NLM:

Further study details as provided by Charite University, Berlin, Germany:

Primary Outcome Measures:
  • 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 [ Time Frame: not defined, cross-sectional analysis ]

Biospecimen Retention:   Samples Without DNA
Blood samples (serum, Blood cells)

Estimated Enrollment: 30
Study Start Date: May 2010
Estimated Study Completion Date: December 2017
Estimated Primary Completion Date: December 2017 (Final data collection date for primary outcome measure)
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.


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01273792

Contact: Jan M Dörr, MD +49 30 450 ext 660162

NeuroCure Clinical Reserach Center, Charité Universitaetsmedizin Recruiting
Berlin, Germany, 10117
Contact: Jan M Dörr, MD    +49 30 450 ext 660162   
Principal Investigator: Jan M Dörr, MD         
Sponsors and Collaborators
Charite University, Berlin, Germany
Principal Investigator: Jan M Dörr, MD NeuroCure Clinical Research Center, Charité Universitaetsmedizin Berlin
  More Information

Responsible Party: Jan-Markus Dörr, PD Dr. med., Charite University, Berlin, Germany Identifier: NCT01273792     History of Changes
Other Study ID Numbers: Biomarkers Susac Syndrome
Study First Received: January 6, 2011
Last Updated: April 13, 2017

Additional relevant MeSH terms:
Susac Syndrome
Pathologic Processes
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 processed this record on May 24, 2017