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Epidemiological, Clinical and Etiological Features of SUSAC's Syndrome (CARESS)

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ClinicalTrials.gov Identifier: NCT01481662
Recruitment Status : Recruiting
First Posted : November 29, 2011
Last Update Posted : December 21, 2017
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris

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.


Condition or disease Intervention/treatment
SUSAC's Syndrome Encephalopathy Hearing Loss Retinal Artery Branch Occlusions Device: Diffusion tensor magnetic resonance imaging of the brain

  Show Detailed Description

Study Type : Observational
Estimated Enrollment : 100 participants
Observational Model: Case-Only
Time Perspective: Other
Official Title: Epidemiological, Clinical and Etiological Features of SUSAC's Syndrome (RETINOCOCHLEOCEREBRAL Vasculopathy)
Study Start Date : November 2011
Estimated Primary Completion Date : May 2020
Estimated Study Completion Date : May 2021

Resource links provided by the National Library of Medicine

MedlinePlus related topics: MRI Scans

Group/Cohort Intervention/treatment
retrospective
cases retrospectively reported the last 20 years
Prospective

Diffusion tensor magnetic resonance imaging of the brain:

new cases prospectively reported

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.
Other Name: Diffusion tensor MRI




Primary Outcome Measures :
  1. 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


Secondary Outcome Measures :
  1. diffusion MRI [ Time Frame: 12 months ]
    diffusion MRI results

  2. serum sample [ Time Frame: day 1 ]
    all samples from each patient will be collected to study potential autoimmune, thrombotic and infectious markers

  3. cerebrospinal fluid sample [ Time Frame: day 1 ]
    all samples from each patient will be collected to study potential autoimmune, thrombotic and infectious markers

  4. DNA sample [ Time Frame: day 1 ]
    all samples from each patient will be collected to study potential autoimmune, thrombotic and infectious markers

  5. RNA sample [ Time Frame: day 1 ]
    all samples from each patient will be collected to study potential autoimmune, thrombotic and infectious markers

  6. 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

  7. Peripheral Blood Mononuclear Cell [ Time Frame: 1 day ]
    all samples from each patient will be collected to study potential autoimmune, thrombotic and infectious markers


Biospecimen Retention:   Samples With DNA
  • serum sample
  • cerebrospinal fluid sample
  • DNA sample
  • RNA sample
  • Peripheral Blood Mononuclear Cell sample


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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
SUSAC's Syndrome (SS) is characterized by the clinical triad of encephalopathy, hearing loss, and retinal artery branch occlusions. Hundreds of patients with SS, mostly young women, have been reported.
Criteria

INCLUSION CRITERIA:

  • Age older than 18
  • Two clinical features of the triad present: encephalopathy, sensorineural hearing loss assessed by audiogram, retinal artery occlusion assessed by fundoscopy or fluorescein retinal angiography.
  • Written informed consent provided. In case of subjects unable to give a written informed consent because of encephalopathy associated with the disease, a written statement of non-opposition should be signed by a relative. This non-opposition statement should be then confirmed by the subject as soon as possible.
  • Realization of a medical examination beforehand

EXCLUSION CRITERIA:

  • Alternative diagnosis: multiple sclerosis, mitochondriopathy, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), primary brain tumor, Lyme disease.
  • In case of associated disease (autoimmune disease, tumor, metabolical disease,…), inclusion will need further analysis by the expert comity.
  • Not membership in a national insurance scheme

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01481662


Contacts
Contact: Thomas PAPO, Pr (1)40258705 ext +33 thomas.papo@bch.aphp.fr
Contact: Fleur Cohen-Aubart, Dr (6) 67896079 ext +33 fleuraubart@yahoo.fr

Locations
France
Hospital BICHAT Recruiting
Paris, France, 75018
Contact: Thomas PAPO, Pr    (1)40258705 ext +33    thomas.papo@aphp.fr   
Contact: Karim SACRE, Pr       karim.sacre@aphp.fr   
Principal Investigator: Thomas PAPO, Pr         
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
Principal Investigator: Thomas PAPO, Pr APHP

Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT01481662     History of Changes
Other Study ID Numbers: P081261
AOM09039 ( Other Identifier: french ministery )
First Posted: November 29, 2011    Key Record Dates
Last Update Posted: December 21, 2017
Last Verified: June 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Keywords provided by Assistance Publique - Hôpitaux de Paris:
SUSAC's Syndrome
encephalopathy
hearing loss
retinal artery branch occlusions
Diffusion tensor MRI

Additional relevant MeSH terms:
Syndrome
Brain Diseases
Hearing Loss
Deafness
Susac Syndrome
Retinal Artery Occlusion
Disease
Pathologic Processes
Central Nervous System Diseases
Nervous System Diseases
Hearing Disorders
Ear Diseases
Otorhinolaryngologic Diseases
Sensation Disorders
Neurologic Manifestations
Signs and Symptoms
Cerebrovascular Disorders
Retinal Diseases
Eye Diseases
Vision Disorders
Arterial Occlusive Diseases
Vascular Diseases
Cardiovascular Diseases
Eye Manifestations