ORPHA:838
Susac syndrome
Also known as: Retinocochleocerebral vasculopathy
Publications
3,339
Trials
0
Interventional, condition-specific
Researchers
1,045
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare systemic or rheumatologic disease characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL) due to autoimmune-mediated occlusions of microvessels in the brain, retina, and inner ear.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019390
- MeSH:D055955
- UMLS:C2717757
- NCIT:C116363
Additional Mondo synonyms (4)
RED-M · SICRET syndrome · retinopathy-encephalopathy-deafness associated with microangiopathy · small infarctions of cochlear, retinal and encephalic tissue
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
3,339 matched papers (2,090 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
3,339
3,339 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
3,339 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
2,090 in the last 10 years · low confidence
Phrase hits: 3,339 · MeSH hits: 0
Who's working on it?
1,045
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Papo T6 papers · 2025
Department of Internal Medecine, Hospital Bichat-Claude Bernard, Assistance Publique Hôpitaux de Paris, Université de Paris, Paris, France.
Papers in Europe PMC - 02Sacré K6 papers · 2025
Department of Internal Medecine, Hospital Bichat-Claude Bernard, Assistance Publique Hôpitaux de Paris, Université de Paris, Paris, France.
Papers in Europe PMC - 03Hardy TA5 papers · 2025
Department of Neurology, Concord Hospital, University of Sydney, Sydney, NSW, Australia.
Papers in Europe PMC - 04Klein I5 papers · 2025
Department of Radiology, Clinique Alleray-Labrouste, Université de Paris, Paris, France.
Papers in Europe PMC - 05Doan S4 papers · 2025
Department of Ophthalmology, Hospital Bichat-Claude Bernard, Assistance Publique Hôpitaux de Paris, Université de Paris, Paris, France.
Papers in Europe PMC - 06Egan RA4 papers · 2024
Alameda Highland Hospital, Department of Neurology, Oakland, CA.
Papers in Europe PMC - 07Fiol MP4 papers · 2024
Department of Neurology, Fleni, Buenos Aires 1428, Argentina.
Papers in Europe PMC - 08Karni A4 papers · 2025
Department of Neurology, Sourasky Tel Aviv Medical Center, Tel Aviv, Israel; Neuroimmunology Unit, Neurological Institute Aviv Medical Center, Tel Aviv, Israel.
Papers in Europe PMC - 09Kolb H4 papers · 2025
Department of Neurology, Sourasky Tel Aviv Medical Center, Tel Aviv, Israel; Neuroimmunology Unit, Neurological Institute Aviv Medical Center, Tel Aviv, Israel.
Papers in Europe PMC - 10Regev K4 papers · 2025
Department of Neurology, Sourasky Tel Aviv Medical Center, Tel Aviv, Israel; Neuroimmunology Unit, Neurological Institute Aviv Medical Center, Tel Aviv, Israel.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 3 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
low confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT06881368·RECRUITING·Phenotypic and Etiological Characterization of Susac Syndrome
Conditions: Susac Syndrome·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Susac syndrome" OR "Retinocochleocerebral vasculopathy" OR "RED-M" OR "SICRET syndrome" OR "retinopathy-encephalopathy-deafness associated with microangiopathy" OR "small infarctions of cochlear, retinal and encephalic tissue" OR "small infarctions of the cochlear, retinal and encephalic tissue"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Susac syndrome" OR "Retinocochleocerebral vasculopathy" OR "RED-M" OR "SICRET syndrome" OR "retinopathy-encephalopathy-deafness associated with microangiopathy" OR "small infarctions of cochlear, retinal and encephalic tissue" OR "small infarctions of the cochlear, retinal and encephalic tissue"
Study-type breakdown: 0 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (3339) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T15:36:32.746Z