Susac Syndrome: common features and possible causes
Phenotypic and Etiological Characterization of Susac Syndrome
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 |
|---|---|
| Enrollment | 180 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Assistance Publique - Hôpitaux de Paris Academic / other |
| Drugs / interventions | cyclophosphamide |
| Locations | 1 site (Paris) |
| Trial ID | NCT06881368 on ClinicalTrials.gov |
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.
Who should consider this trial
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.
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.
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 performed: This effort is largely novel at a population level—previous evidence consists mainly of case reports and small series rather than comprehensive characterization.
Eligibility criteria
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 this trial is running
Paris
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.