Epidemiological, Clinical and Etiological Features of SUSAC's Syndrome
NCT01481662 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 100
Last updated 2017-12-21
Summary
SUSAC's Syndrome (SS) is characterized by the clinical triad of encephalopathy, hearing loss, and retinal artery branch occlusions. Since the first description of SS in 1979, hundreds of patients with SS, mostly young women, have been reported. However, comprehensive epidemiological, clinical and etiological features of SS have never been specifically addressed so far.
The objective of this study is to characterize the epidemiological, clinical, and etiological features of SUSAC's Syndrome. In this aim, the investigators will constitute a national clinical-based cohort including all SS cases retrospectively reported in France since the last 20 years and all new cases prospectively observed. French Society of Neurology, Ophthalmology and Internal Medicine will be asked to collaborate. Every case will be reviewed by an expert comity of internists, neurologists and neuroradiologists to validate the diagnosis. The exhaustive and systematic analysis of each case will help to better define different aspects of the disease such as the incidence and prevalence, the clinical presentation, the diagnostic modalities and the impact of treatments. Diffusion tensor magnetic resonance imaging of the brain will be obtained to more carefully study the cerebral microvasculopathy of the disease. Serum, cerebrospinal fluid, and DNA samples from each patient will also be collected to study potential autoimmune, thrombotic and infectious markers.
Conditions
- SUSAC's Syndrome
- Encephalopathy
- Hearing Loss
- Retinal Artery Branch Occlusions
Interventions
- DEVICE
-
Diffusion tensor magnetic resonance imaging of the brain
Diffusion tensor magnetic resonance imaging of the brain will be obtained to more carefully study the cerebral microvasculopathy of the disease.
Sponsors & Collaborators
-
Assistance Publique - Hôpitaux de Paris
lead OTHER
Principal Investigators
-
Thomas PAPO, Pr · APHP
Eligibility
- Min Age
- 18 Years
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2011-11-30
- Primary Completion
- 2020-05-31
- Completion
- 2021-05-31
Countries
- France
Study Locations
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