Clinical trial Recruiting at 1 site Observational Ages 18 and up

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 typeObservational
Ages18 Years and up
SexAll
Enrollment180 (estimated)
SponsorAssistance Publique - Hôpitaux de Paris
Academic / other
Drugs / interventionscyclophosphamide
Locations1 site (Paris)
StatusRecruiting
StartedJuly 1, 2025
Main results expectedNovember 30, 2044
Study endsFebruary 15, 2045
Registry record updatedMay 7, 2026
Trial IDNCT06881368 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

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

How to take part

  1. Review the eligibility criteria above with your treating physician.
  2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
  3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.
Last reviewed 2026-11-14 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.