Investigation of Biomarkers in Susac Syndrome

The recruitment status of this study is unknown because the information has not been verified recently.
Verified February 2013 by Charite University, Berlin, Germany.
Recruitment status was  Recruiting
Information provided by:
Charite University, Berlin, Germany Identifier:
First received: January 6, 2011
Last updated: February 11, 2013
Last verified: February 2013
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 [ 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)
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
Genders Eligible for Study:   Both
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: Dr. Jan Dörr, MD, Charité Universitaetsmedizin Berlin, Germany 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
Arterial Occlusive Diseases
Brain Diseases
Cardiovascular Diseases
Central Nervous System Diseases
Cerebrovascular Disorders
Ear Diseases
Eye Diseases
Eye Manifestations
Nervous System Diseases
Neurologic Manifestations
Otorhinolaryngologic Diseases
Pathologic Processes
Retinal Artery Occlusion
Retinal Diseases
Signs and Symptoms
Vascular Diseases
Vision Disorders processed this record on May 26, 2016