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ORPHA:136

CADASIL

medium confidenceDisorder

Also known as: Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy · Hereditary multi-infarct dementia

Publications

17,665

97.6th percentile

Trials

10

Interventional, condition-specific

Researchers

1,193

Distinct authors in sample

Gene link

NOTCH3

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

CADASIL (Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (9)

CADASIL syndrome · CADASIL type 1 · CADASIL1 · CASIL · autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1 · cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 · cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 · dementia, hereditary multi-infarct type · hereditary multi-infarct dementia

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — NOTCH3

  2. LiteraturePresent

    17,665 matched papers (12,088 in last 10 years) Source

  3. Phenotype characterisedPresent

    65 HPO annotations (e.g. Memory impairment; Gait disturbance; Perseverative thought) Source

  4. Animal modelPresent

    8 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    10 matched on ClinicalTrials.gov (3 recruiting in sample)

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?

Yes — we know a specific gene responsible (NOTCH3).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

65

Associated phenotypes · MONDO:0000914

  • Memory impairment
  • Gait disturbance
  • Perseverative thought
  • Nonarteritic anterior ischemic optic neuropathy
  • Visual loss

Showing 5 of 65 — open Monarch for the full list.

Animal models (Monarch / Alliance)

8

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

17,665

17,665 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

17,665 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

12,088 in the last 10 years · medium confidence · 97.6th percentile (publications denominator)

Phrase hits: 4,759 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,193

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Lee YC11 papers · 2026

    Department of Neurology, Taipei Veterans General Hospital, Taiwan (Y.-C. Lee, Y.-C. Liao).

    Papers in Europe PMC
  2. 02
    Chen CH10 papers · 2026

    Department of Neurology, National Taiwan University Hospital, Taipei (C.-H.C., Y.-W.C., S.-C.T.).

    Papers in Europe PMC
  3. 03
    Tang SC10 papers · 2026

    Department of Neurology, National Taiwan University Hospital, Taipei (C.-H.C., Y.-W.C., S.-C.T.).

    Papers in Europe PMC
  4. 04
    Chabriat H9 papers · 2026

    From the ARAMIS (S.K., S.T.D.M.), Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, CNRS, Inria, Inserm, AP-HP, Groupe Hospitalier Sorbonne Université; Centre de référence pour les maladies vasculaires rares du cerveau et de l'œil (CERVCO) and Centre Neurovascular Translationnel (CNVT) (D.H., A.J., S.R., C.M., S.G., A.T., F.F., H.C.), AP-HP, Paris; and INSERM U1141 - FHU NeuroVasc (D.H., S.G., H.C.), Université Paris Cité, France.

    Papers in Europe PMC
  5. 05
    Cheng YW9 papers · 2026

    Department of Neurology, National Taiwan University Hospital, Taipei (C.-H.C., Y.-W.C., S.-C.T.).

    Papers in Europe PMC
  6. 06
    Liao YC9 papers · 2026

    Department of Neurology, Taipei Veterans General Hospital, Taiwan (Y.-C. Lee, Y.-C. Liao).

    Papers in Europe PMC
  7. 07
    Saito S8 papers · 2026

    Department of Neurology, National Cerebral and Cardiovascular Center, Suita, Japan (S.S., M.I.).

    Papers in Europe PMC
  8. 08
    Choi JC7 papers · 2026

    Department of Neurology, Jeju National University College of Medicine, Jeju National University Hospital, Korea (J.-G.K., J.C.C.).

    Papers in Europe PMC
  9. 09
    Kim H7 papers · 2026

    Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.

    Papers in Europe PMC
  10. 10
    Lesnik Oberstein SAJ7 papers · 2026

    Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

10

interventional trials for this specific condition

10 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

10 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92.5th percentile).

medium confidence · 92.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

10 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

21 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

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 6 · after dedupe 6 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 6 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (6)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for CADASIL — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

("CADASIL" OR "Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy" OR "Hereditary multi-infarct dementia" OR "CADASIL syndrome" OR "CADASIL type 1" OR "CADASIL1" OR "CASIL" OR "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1" OR "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1" OR "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1" OR "dementia, hereditary multi-infarct type") OR ("NOTCH3" OR "NOTCH3 syndrome" OR "NOTCH3-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"CADASIL" OR "Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy" OR "Hereditary multi-infarct dementia" OR "CADASIL syndrome" OR "CADASIL type 1" OR "CADASIL1" OR "CASIL" OR "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1" OR "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1" OR "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1" OR "dementia, hereditary multi-infarct type"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 10 interventional · 21 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

Ingested 2026-07-26T12:34:54.661Z