Phenotypic and Etiological Characterization of Susac Syndrome

NCT06881368 · tracked via the Priya Life Science France tracker

Sponsor

Assistance Publique - Hôpitaux de Paris

Phase

Observational

Started

2025-07-01

Last updated

2026-05-07

Condition(s) studied

Susac Syndrome

Study 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.

Eligibility

Sex

ALL

Min age

18 Years

Max age

—

Healthy volunteers

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.

Primary outcome measure(s)

To characterize the epidemiological Susac's Syndrome — 10 years
Variables collected at inclusion: Date of birth
1. To characterize the epidemiological of Susac's Syndrome — 10 years
Variables collected at inclusion: • Place of birth
1. To characterize the epidemiological of Susac's Syndrome — 10 years
• Variables collected at inclusion: Sex
1. To characterize the epidemiological of Susac's Syndrome — 10 years
• Variables collected at inclusion : Date of first symptom
1. To characterize the epidemiological of Susac's Syndrome — 10 years
• Variables collected at inclusion: Date of diagnosis
2. To characterize the etiological of Susac's Syndrome — 10 years
Variables collected at inclusion : • Personal medical history
2. To characterize the etiological of Susac's Syndrome — 10 years
Variables collected at inclusion : • Gynaecological history
2. To characterize the etiological of Susac's Syndrome — 10 years
Variables collected at inclusion : • Surgical history
2. To characterize the etiological of Susac's Syndrome — 10 years
Variables collected at inclusion : • Family history
2. To characterize the etiological of Susac's Syndrome — 10 years
• Variables collected at inclusion : Previous travel and vaccination status
2. To characterize the etiological of Susac's Syndrome — 10 years
Variables collected at inclusion : • Any symptoms (flu-like illness, fever)
2. To characterize the etiological of Susac's Syndrome — 10 years
Variables collected at each visit : • - Weight in kilograms
2. To characterize the etiological of Susac's Syndrome — 10 years
Variables collected at each visit : • - Tobacco consumption
2. To characterize the etiological of Susac's Syndrome — 10 years
Variables collected at each visit : • - Use of oestroprogestogenic contraception
2. To characterize the etiological of Susac's Syndrome — 10 years
Variables collected at each visit : • - Alcohol consumption
3. To characterize the clinical of Susac's Syndrome — 10 years
1\) Neurology: Neurological symptoms: present / absent / date of onset : Headache
3. To characterize the clinical of Susac's Syndrome — 10 years
Neurology: Neurological symptoms: present / absent / date of onset : • Sensory disturbance
3. To characterize the clinical of Susac's Syndrome — 10 years
Neurology: Neurological symptoms: present / absent / date of onset : • Motor deficit
3. To characterize the clinical of Susac's Syndrome — 10 years
Neurology: Neurological symptoms: present / absent / date of onset : • Osteotendinous pyramidal reflexes
3. To characterize the clinical of Susac's Syndrome — 10 years
Neurology: Neurological symptoms: present / absent / date of onset : • Babinski sign
3. To characterize the clinical of Susac's Syndrome — 10 years
Neurology: Neurological symptoms: present / absent / date of onset : • Hoffman's sign
3. To characterize the clinical of Susac's Syndrome — 10 years
1\) Neurology: Neurological symptoms: present / absent / date of onset : • Tact sensitivity disorder
3. To characterize the clinical of Susac's Syndrome — 10 years
1\) Neurology: Neurological symptoms: present / absent / date of onset : • Thermoal sensitivity deficit
3. To characterize the clinical of Susac's Syndrome — 10 years
1\) Neurology: Neurological symptoms: present / absent / date of onset : Proprioceptive disorder : • If yes, specify : * Ataxia
3. To characterize the clinical of Susac's Syndrome — 10 years
1\) Neurology: Neurological symptoms: present / absent / date of onset : Proprioceptive disorder : • If yes, specify : * Anomaly of the sense of position of the big toe
3. To characterize the clinical of Susac's Syndrome — 10 years
1\) Neurology: Neurological symptoms: present / absent / date of onset : • Paresthesias
3. To characterize the clinical of Susac's Syndrome — 10 years
1\) Neurology: Neurological symptoms: present / absent / date of onset : • Encephalopathy, If yes, specify the signs present: * Confusion
3. To characterize the clinical of Susac's Syndrome — 10 years
1\) Neurology: Neurological symptoms: present / absent / date of onset : • Encephalopathy, If yes, specify the signs present: * Obnubilation
3. To characterize the clinical of Susac's Syndrome — 10 years
1\) Neurology: Neurological symptoms: present / absent / date of onset : • Encephalopathy, If yes, specify the signs present: * Coma
3. To characterize the clinical of Susac's Syndrome — 10 years
1\) Neurology: Neurological symptoms: present / absent / date of onset : • Encephalopathy, If yes, specify the signs present: * Agitation
3. To characterize the clinical of Susac's Syndrome — 10 years
1\) Neurology: Neurological symptoms: present / absent / date of onset : • Encephalopathy, If yes, specify the signs present: * Temporo-spatial disorientation
3. To characterize the clinical of Susac's Syndrome — 10 years
1\) Neurology: Neurological symptoms: present / absent / date of onset : • Encephalopathy, If yes, specify the signs present: * Fluctuating memory disorders
3. To characterize the clinical of Susac's Syndrome — 10 years
• Any sequelae : Results of neurocognitive assessment : BREF
3. To characterize the clinical of Susac's Syndrome — 10 years
Any sequelae : • Results of neurocognitive assessment: MMS
3. To characterize the clinical of Susac's Syndrome — 10 years
Any sequelae : For mood disorders and quality of life: DSMIV criteria for depression
3. To characterize the clinical of Susac's Syndrome — 10 years
Any sequelae : For mood disorders and quality of life: SF36
3. To characterize the clinical of Susac's Syndrome — 10 years
Any sequelae : • For disability : Barthel Index
3. To characterize the clinical of Susac's Syndrome — 10 years
• Any sequelae : For disability : Rankin score
3. To characterize the clinical of Susac's Syndrome — 10 years
Ophthalmology • Ophthalmological examination results : Fundus
3. To characterize the clinical of Susac's Syndrome — 10 years
Ophthalmology • Ophthalmological examination results : Visual field
3. To characterize the clinical of Susac's Syndrome — 10 years
Ophthalmology • Ophthalmological examination results : o Angiography
3. To characterize the clinical of Susac's Syndrome — 10 years
• Ophthalmology Ophthalmological symptoms: scotoma
3. To characterize the clinical of Susac's Syndrome — 10 years
Ophthalmology : Ophthalmological symptoms: decrease in visual acuity
3. To characterize the clinical of Susac's Syndrome — 10 years
Ophtalmology : Evolution of retinal arterial occlusions: improvement
3. To characterize the clinical of Susac's Syndrome — 10 years
Ophthalmology : Evolution of retinal arterial occlusions: stability
3. To characterize the clinical of Susac's Syndrome — 10 years
Ophthalmology : Evolution of retinal arterial occlusions: worsening
3. To characterize the clinical of Susac's Syndrome — 10 years
• Ophthalmology : Sequelae
3. To characterize the clinical of Susac's Syndrome — 10 years
ENT : * Cochlear symptoms: vertigo, tinnitus, ataxia, hearing loss
3. To characterize the clinical of Susac's Syndrome — 10 years
ENT: • Audiogram results
3. To characterize the clinical of Susac's Syndrome — 10 years
ENT • Results of vestibular examinations
3. To characterize the clinical of Susac's Syndrome — 10 years
ENT • Course of deafness: improvement, stability, worsening
3. To characterize the clinical of Susac's Syndrome — 10 years
ENT : • Possible sequelae (functional discomfort, psycho-social repercussions, follow-up audiograms)

Trial sites (1)

Facility	City	Region	Status
Hôpital Bichat	Paris	France	Recruiting

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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06881368 on ClinicalTrials.gov ↗ ← All trials in France