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ORPHA:136

CADASIL

medium confidenceDisorder

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

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

4,759

96.1th percentile

Trials

10

Interventional, condition-specific

Researchers

1,157

Distinct authors in sample

Gene link

NOTCH3

Definitive

Readiness

3/6

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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — NOTCH3

  2. LiteraturePresent

    4,759 matched papers (2,671 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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)

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?

4,759

4,759 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.

4,759 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).

2,671 in the last 10 years · medium confidence · 96.1th percentile (publications denominator)

Phrase hits: 4,759 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,157

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
    Chabriat H8 papers · 2026

    University Hospital LARIBOISIERE, France.

    Papers in Europe PMC
  2. 02
    Duering M8 papers · 2026

    Medical Image Analysis Centre (MIAC) and Department of Biomedical Engineering, University of Basel, Basel, Switzerland.

    Papers in Europe PMC
  3. 03
    Gesierich B8 papers · 2026

    Medical Image Analysis Centre (MIAC) and Department of Biomedical Engineering, University of Basel, Basel, Switzerland.

    Papers in Europe PMC
  4. 04
    Lee YC8 papers · 2026

    Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan; Department of Neurology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Brain Research Center, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.

    Papers in Europe PMC
  5. 05
    Li Y8 papers · 2026

    Department of Neurology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

    Papers in Europe PMC
  6. 06
    Gravesteijn G7 papers · 2026

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

    Papers in Europe PMC
  7. 07
    Lesnik Oberstein SAJ7 papers · 2026

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

    Papers in Europe PMC
  8. 08
    Saito S7 papers · 2026

    Department of Neurology, National Cerebral and Cardiovascular Center, Suita, Japan.

    Papers in Europe PMC
  9. 09
    Chen CH6 papers · 2026

    Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.

    Papers in Europe PMC
  10. 10
    Cheng YW6 papers · 2026

    Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.

    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 27 July 2026

10 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 91.7th percentile).

medium confidence · 91.7th 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

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 2026-07-26

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"

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" OR "NOTCH3"

Recall-expansion terms: NOTCH3

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: suspect — strategies attempted: phrase, recall-expansion; 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