Hearing Loss Clinical Trial
Official title:
Epidemiological, Clinical and Etiological Features of SUSAC's Syndrome (RETINOCOCHLEOCEREBRAL Vasculopathy)
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.
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, and impaired hearing and vision.
SUSAC's Syndrome is a vasculopathy causing small infarcts in the cochlea, retina and brain.
Proposed explanations include a hypercoagulable state, vasospasm, and vasculitis, none of
which are supported by laboratory results or findings on brain biopsies. The unique
distribution of arteriolar disease affecting the brain, the retina, and the cochlea suggests
selective vulnerability of these three structures. The brain, retina, and cochlea all have a
blood-tissue barrier, and the endothelium in these sites shares a common embryologic origin
and unique structural and antigenic characteristics. It has therefore been proposed that SS
is an autoimmune disease in which the endothelium is the primary target, and damage to the
endothelium triggers arteriolar occlusion and microinfarcts. However, the pathogenesis
remains unknown.
The objective of this study is to characterize the epidemiological, clinical, and etiological
features of SUSAC's Syndrome. In this aim, we 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, DNA samples from each patient will also be collected to study potential
autoimmune, thrombotic and infectious markers.
Because SUSAC's syndrome is a rare disease, we expect to include one hundred patients in this
cohort. The constitution of the cohort and the collection of the samples will last for 2
years and half.
The conclusion of the study, based on statistical analysis done once all patients will be
included in the cohort, should allow new recommendations in the diagnosis strategy and give
new understandings of the therapeutic management of the disease. The result of this study may
also give rise to hypothesis for an interventional study.
It's important to underline that this study must be considered as an interventional study.
Indeed, in this study the patients have a specific MRI, the acquisition of the sequences is
with diffusion tensor. While in common practice the patients have only classical MRI without
this specific sequences which is the routinely technique used.
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