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

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2013 by Assistance Publique - Hôpitaux de Paris
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier:
NCT01481662
First received: November 22, 2011
Last updated: August 13, 2013
Last verified: August 2013
  Purpose

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

Study Type: Observational
Study Design: Observational Model: Case-Only
Official Title: Epidemiological, Clinical and Etiological Features of SUSAC's Syndrome (RETINOCOCHLEOCEREBRAL Vasculopathy)

Resource links provided by NLM:


Further study details as provided by Assistance Publique - Hôpitaux de Paris:

Primary Outcome Measures:
  • To characterize the epidemiological, clinical, and etiological of SUSAC's Syndrome [ Time Frame: 1 year ] [ Designated as safety issue: No ]
    To characterize the epidemiological, clinical, and etiological of SUSAC's Syndrome


Secondary Outcome Measures:
  • diffusion MRI [ Time Frame: 12 months ] [ Designated as safety issue: No ]
    diffusion MRI results

  • serum sample [ Time Frame: day 1 ] [ Designated as safety issue: No ]
    all samples from each patient will be collected to study potential autoimmune, thrombotic and infectious markers

  • cerebrospinal fluid sample [ Time Frame: day 1 ] [ Designated as safety issue: No ]
    all samples from each patient will be collected to study potential autoimmune, thrombotic and infectious markers

  • DNA sample [ Time Frame: day 1 ] [ Designated as safety issue: No ]
    all samples from each patient will be collected to study potential autoimmune, thrombotic and infectious markers

  • RNA sample [ Time Frame: day 1 ] [ Designated as safety issue: No ]
    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 ] [ Designated as safety issue: No ]
    To characterize the epidemiological, clinical, and etiological of SUSAC's Syndrome

  • Peripheral Blood Mononuclear Cell [ Time Frame: 1 day ] [ Designated as safety issue: No ]
    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

Estimated Enrollment: 100
Study Start Date: November 2011
Estimated Study Completion Date: November 2016
Estimated Primary Completion Date: November 2016 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
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

  Show Detailed Description

  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
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
  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 ClinicalTrials.gov identifier: 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@bch.aphp.fr   
Contact: Fleur COHEN-AUBART, Dr    (6)67896079 ext +33    fleuraubart@yahoo.fr   
Principal Investigator: Thomas PAPO, Pr         
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
Principal Investigator: Thomas PAPO, Pr APHP
  More Information

No publications provided

Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT01481662     History of Changes
Other Study ID Numbers: P081261, AOM09039
Study First Received: November 22, 2011
Last Updated: August 13, 2013
Health Authority: France: Ministry of Health

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:
Retinal Artery Occlusion
Hearing Loss
Deafness
Brain Damage, Chronic
Delirium
Encephalitis
Hepatic Encephalopathy
Neurotoxicity Syndromes
Susac Syndrome
Retinal Diseases
Eye Diseases
Arterial Occlusive Diseases
Vascular Diseases
Cardiovascular Diseases
Hearing Disorders
Ear Diseases
Otorhinolaryngologic Diseases
Sensation Disorders
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Brain Diseases
Central Nervous System Diseases
Confusion
Neurobehavioral Manifestations
Delirium, Dementia, Amnestic, Cognitive Disorders
Mental Disorders
Central Nervous System Viral Diseases
Virus Diseases
Central Nervous System Infections

ClinicalTrials.gov processed this record on July 28, 2014