Susac Syndrome: common features and possible causes
Official title: Phenotypic and Etiological Characterization of Susac Syndrome
Run by Assistance Publique - Hôpitaux de Paris · NCT06881368 · Data updated 2026-11-12
This project will collect clinical, imaging, and laboratory information from adults with Susac Syndrome to try to identify typical symptoms, patterns, and possible causes.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 18 Years and up |
| Sex | All |
| Enrollment | 180 (estimated) |
| Sponsor | Assistance Publique - Hôpitaux de Paris Academic / other |
| Drugs / interventions | cyclophosphamide |
| Locations | 1 site (Paris) |
| Status | Recruiting |
| Started | July 1, 2025 |
| Main results expected | November 30, 2044 |
| Study ends | February 15, 2045 |
| Registry record updated | May 7, 2026 |
| Trial ID | NCT06881368 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Adults (age 18 or older) with suspected or confirmed Susac Syndrome who present at least two of the triad: encephalopathy, sensorineural hearing loss confirmed by audiogram, or retinal artery branch occlusion documented by fundoscopy or fluorescein angiography.
✕Probably not a fit
Patients with a clear alternative diagnosis such as multiple sclerosis, CADASIL, mitochondrial disease, a primary CNS tumor, or Lyme disease are unlikely to benefit from participation.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This is an observational, single-center project that enrolls adults with at least two features of the Susac triad (encephalopathy, audiogram-confirmed cochlear damage, or retinal artery branch occlusion). Investigators will compile detailed clinical histories, brain MRI findings, audiograms, retinal imaging (fundoscopy/fluorescein angiography), cerebrospinal fluid and routine laboratory results to define epidemiological, phenotypic, and etiological patterns. No experimental treatments are given; the work is intended to better characterize how the disease presents and progresses. The aim is to create a more complete clinical picture to improve recognition and future research directions.
Why it matters
Potential benefit: If successful, this could help clinicians diagnose Susac Syndrome earlier and guide more targeted management by clarifying typical presentations and possible causes.
How similar studies have gone: This effort is largely novel at a population level—previous evidence consists mainly of case reports and small series rather than comprehensive characterization.
Who can join: the full rules
Show full inclusion / exclusion criteria
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.
Where it's running
-
Hôpital Bichat
Paris, France Recruiting
Study contacts
- Principal investigator: Karim Sacre, MD, PHD — Assistance Publique - Hôpitaux de Paris
- Study coordinator: Karim Sacre, MD, PHD
- Email: karim.sacre@aphp.fr
- Phone: +33140258705
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.