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NCT Number: NCT06881368

Phenotypic and Etiological Characterization of Susac Syndrome

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.

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Key information

Conditions

Susac Syndrome Arterial Occlusive Diseases Brain Diseases Cardiovascular Diseases Central Nervous System Diseases Cerebrovascular Disorders Ear Diseases Eye Diseases Eye Manifestations Nervous System Diseases Neurologic Manifestations Otorhinolaryngologic Diseases Pathological Conditions, Signs and Symptoms Retinal Artery Occlusion Retinal Diseases Signs and Symptoms Vascular Diseases Vision Disorders

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

About this study

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 cerebro-spinal 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 antithrobomtic 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 new cases prospectively observed. French Society of Neurology, Ophtalmology and Internal Medicine will be asked to collaborate.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.

Because Susac's syndrome is a rare disease, we expect to include 180 patients in this cohort. The constitution of the cohort will last for 19 years (9 years of inclusion and 10 years of follow-up.

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Patient over 18 years of age
  • Patient presenting with at least two of the signs of the clinical triad: encephalopathy, cochlear damage authenticated by an audiogram (uni- or bilateral, predominantly in the middle or low frequencies), retinal artery occlusion assessed by fundoscopy or fluorescein retinal angiography.

Exclusion criteria

  • Patient having been individually informed and objecting to the use of his/her data
  • Patient under legal protection (guardianship or curatorship)
  • Differential diagnosis established: multiple sclerosis, mitochondriopathy, CADASIL, primary tumour of the central nervous system, Lyme disease.

Treatment and study plan

Primary outcomes

  1. To characterize the epidemiological Susac's Syndrome

    Time frame: 10 years

    Variables collected at inclusion: Date of birth

  2. 1. To characterize the epidemiological of Susac's Syndrome

    Time frame: 10 years

    Variables collected at inclusion:

    • Place of birth

  3. 1. To characterize the epidemiological of Susac's Syndrome

    Time frame: 10 years

    • Variables collected at inclusion: Sex

  4. 1. To characterize the epidemiological of Susac's Syndrome

    Time frame: 10 years

    • Variables collected at inclusion : Date of first symptom

  5. 1. To characterize the epidemiological of Susac's Syndrome

    Time frame: 10 years

    • Variables collected at inclusion: Date of diagnosis

  6. 2. To characterize the etiological of Susac's Syndrome

    Time frame: 10 years

    Variables collected at inclusion :

    • Personal medical history

  7. 2. To characterize the etiological of Susac's Syndrome

    Time frame: 10 years

    Variables collected at inclusion :

    • Gynaecological history

  8. 2. To characterize the etiological of Susac's Syndrome

    Time frame: 10 years

    Variables collected at inclusion :

    • Surgical history

  9. 2. To characterize the etiological of Susac's Syndrome

    Time frame: 10 years

    Variables collected at inclusion :

    • Family history

  10. 2. To characterize the etiological of Susac's Syndrome

    Time frame: 10 years

    • Variables collected at inclusion : Previous travel and vaccination status

  11. 2. To characterize the etiological of Susac's Syndrome

    Time frame: 10 years

    Variables collected at inclusion :

    • Any symptoms (flu-like illness, fever)

  12. 2. To characterize the etiological of Susac's Syndrome

    Time frame: 10 years

    Variables collected at each visit :

    • - Weight in kilograms

  13. 2. To characterize the etiological of Susac's Syndrome

    Time frame: 10 years

    Variables collected at each visit :

    • - Tobacco consumption

  14. 2. To characterize the etiological of Susac's Syndrome

    Time frame: 10 years

    Variables collected at each visit :

    • - Use of oestroprogestogenic contraception

  15. 2. To characterize the etiological of Susac's Syndrome

    Time frame: 10 years

    Variables collected at each visit :

    • - Alcohol consumption

  16. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    • Neurology: Neurological symptoms: present / absent / date of onset : Headache

  17. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    Neurology: Neurological symptoms: present / absent / date of onset :

    • Sensory disturbance

  18. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    Neurology: Neurological symptoms: present / absent / date of onset :

    • Motor deficit

  19. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    Neurology: Neurological symptoms: present / absent / date of onset :

    • Osteotendinous pyramidal reflexes

  20. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    Neurology: Neurological symptoms: present / absent / date of onset :

    • Babinski sign

  21. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    Neurology: Neurological symptoms: present / absent / date of onset :

    • Hoffman's sign

  22. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    • Neurology: Neurological symptoms: present / absent / date of onset :
    • Tact sensitivity disorder

  23. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    • Neurology: Neurological symptoms: present / absent / date of onset :
    • Thermoal sensitivity deficit

  24. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    • Neurology: Neurological symptoms: present / absent / date of onset :

    Proprioceptive disorder :

    • If yes, specify :
    • Ataxia

  25. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    • Neurology: Neurological symptoms: present / absent / date of onset :

    Proprioceptive disorder :

    • If yes, specify :
    • Anomaly of the sense of position of the big toe

  26. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    • Neurology: Neurological symptoms: present / absent / date of onset :
    • Paresthesias

  27. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    • Neurology: Neurological symptoms: present / absent / date of onset :
    • Encephalopathy, If yes, specify the signs present:
    • Confusion

  28. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    • Neurology: Neurological symptoms: present / absent / date of onset :
    • Encephalopathy, If yes, specify the signs present:
    • Obnubilation

  29. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    • Neurology: Neurological symptoms: present / absent / date of onset :
    • Encephalopathy, If yes, specify the signs present:
    • Coma

  30. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    • Neurology: Neurological symptoms: present / absent / date of onset :
    • Encephalopathy, If yes, specify the signs present:
    • Agitation

  31. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    • Neurology: Neurological symptoms: present / absent / date of onset :
    • Encephalopathy, If yes, specify the signs present:
    • Temporo-spatial disorientation

  32. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    • Neurology: Neurological symptoms: present / absent / date of onset :
    • Encephalopathy, If yes, specify the signs present:
    • Fluctuating memory disorders

  33. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    • Any sequelae : Results of neurocognitive assessment : BREF

  34. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    Any sequelae : • Results of neurocognitive assessment: MMS

  35. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    Any sequelae : For mood disorders and quality of life: DSMIV criteria for depression

  36. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    Any sequelae : For mood disorders and quality of life: SF36

  37. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    Any sequelae : • For disability : Barthel Index

  38. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    • Any sequelae : For disability : Rankin score

  39. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    Ophthalmology

    • Ophthalmological examination results : Fundus

  40. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    Ophthalmology

    • Ophthalmological examination results : Visual field

  41. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    Ophthalmology

    • Ophthalmological examination results : o Angiography

  42. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    • Ophthalmology Ophthalmological symptoms: scotoma

  43. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    Ophthalmology : Ophthalmological symptoms: decrease in visual acuity

  44. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    Ophtalmology : Evolution of retinal arterial occlusions: improvement

  45. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    Ophthalmology : Evolution of retinal arterial occlusions: stability

  46. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    Ophthalmology : Evolution of retinal arterial occlusions: worsening

  47. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    • Ophthalmology : Sequelae

  48. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    ENT :

    • Cochlear symptoms: vertigo, tinnitus, ataxia, hearing loss

  49. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    ENT:

    • Audiogram results

  50. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    ENT

    • Results of vestibular examinations

  51. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    ENT

    • Course of deafness: improvement, stability, worsening

  52. 3. To characterize the clinical of Susac's Syndrome

    Time frame: 10 years

    ENT :

    • Possible sequelae (functional discomfort, psycho-social repercussions, follow-up audiograms)

Study contacts

Contact information is provided by the study sponsor or research team.

Karim Sacre, MD, PHD

CONTACT

[email protected]

+33140258705

Thomas Papo, MD, PHD

CONTACT

[email protected]

Sponsors and collaborators

Lead sponsor

Assistance Publique - Hôpitaux de Paris

Other

Registry information

Acronym: CARESS Cohorte

Important dates

Study start
2025
Primary completion
2044
Study completion
2045
First posted
Mar 18, 2025
Registry last updated
May 7, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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