Clinical Trial: Epidemiological, Clinical and Etiological Features of SUSAC's Syndrome

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Epidemiological, Clinical and Etiological Features of SUSAC's Syndrome (RETINOCOCHLEOCEREBRAL Vasculopathy)

Brief 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.


Detailed 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 diagnosis of SS is difficult because its characteristic signs often do not occur simultaneously or may be too subtle for the patient to notice. Neurological features of SS may occur several months prior to other symptoms. The retinal artery branch occlusion, by occurring in the peripheral portion of the retina, may remain asymptomatic. Sensorineural hearing loss may also be asymptomatic and disclosed only by audiogram. Besides mild pleocytosis in cerebrospinal fluid, all performed biological tests are virtually negative. No infectious agent, consistent autoimmune marker, or coagulopathy has been disclosed. Changes seen on brain MRI are well characterized although not specific. The only site from which biopsy material is available for pathological analysis is the brain. The most common finding in brain biopsies is the presence of microinfarcts but brain biopsy is not currently performed.

Although the treatment of SS has not been studied in controlled trials, most patients have a good response to treatment with glucocorticoids, with the addition of anti-thrombotic therapy and, for cases in which the disease is refractory to steroids, intravenous immune globulin or cyclophosphamide. The clinical course is characterized by recurrent attacks involving 1 or more components of the triad that characterize the active phase of the disease. Remission usually occurs after the active phase but some patients show residual mild to moderate dementia or gait disturbance,
Sponsor: Assistance Publique - Hôpitaux de Paris

Current Primary Outcome: To characterize the epidemiological, clinical, and etiological of SUSAC's Syndrome [ Time Frame: 1 year ]

To characterize the epidemiological, clinical, and etiological of SUSAC's Syndrome


Original Primary Outcome: To characterize the epidemiological, clinical, and etiological of SUSAC's Syndrome [ Time Frame: 5 years ]

To characterize the epidemiological, clinical, and etiological of SUSAC's Syndrome


Current Secondary Outcome:

  • diffusion MRI [ Time Frame: 12 months ]
    diffusion MRI results
  • serum sample [ Time Frame: day 1 ]
    all samples from each patient will be collected to study potential autoimmune, thrombotic and infectious markers
  • cerebrospinal fluid sample [ Time Frame: day 1 ]
    all samples from each patient will be collected to study potential autoimmune, thrombotic and infectious markers
  • DNA sample [ Time Frame: day 1 ]
    all samples from each patient will be collected to study potential autoimmune, thrombotic and infectious markers
  • RNA sample [ Time Frame: day 1 ]
    all samples from each patient will be collected to study potential autoimmune, thrombotic and infectious markers
  • To characterize the epidemiological, clinical, and etiological of SUSAC's Syndrome [ Time Frame: 5 years ]
    To characterize the epidemiological, clinical, and etiological of SUSAC's Syndrome
  • Peripheral Blood Mononuclear Cell [ Time Frame: 1 day ]
    all samples from each patient will be collected to study potential autoimmune, thrombotic and infectious markers


Original Secondary Outcome:

  • diffusion MRI [ Time Frame: 12 months ]
  • serum sample [ Time Frame: day 1 ]
    all samples from each patient will be collected to study potential autoimmune, thrombotic and infectious markers
  • cerebrospinal fluid sample [ Time Frame: day 1 ]
    all samples from each patient will be collected to study potential autoimmune, thrombotic and infectious markers
  • DNA sample [ Time Frame: day 1 ]
    all samples from each patient will be collected to study potential autoimmune, thrombotic and infectious markers


Information By: Assistance Publique - Hôpitaux de Paris

Dates:
Date Received: November 22, 2011
Date Started: November 2011
Date Completion: May 2021
Last Updated: September 1, 2016
Last Verified: August 2016