cureCADASIL Association

Patient-Partnered Collaboration

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CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-Cortical Infarcts and Leukoencephaolopathy) is a rare, inherited form of cerebrovascular disease that occurs when the thickening of small blood vessel walls in the brain's white matter blocks the flow of blood to the brain. It is the most common hereditary condition leading to small-vessel vascular cognitive impairment and dementia.

Last updated 04/30/2026

Clinical

Disease Class

Genetic diseases

Leukodystrophies and white matter disorders

Neurological diseases

Vascular disease

Body Systems

Cardiovascular / Circulatory

Nervous / Sensory

Organs

Brain

Nerves

Veins

Known Genetic Link

Yes, one or more genes directly cause the condition

Causative Genes

NOTCH3

Contributory Genes

None specified / unknown

Type of Inheritance

Autosomal dominant

Newborn Screening

Disease Mechanism(s)

Ion channel dysfunction

Protein aggregation

Protein misfolding

Vascular/Angiogenesis Defects

Age of Onset

Adulthood (age 18-64)

Average Age at Diagnosis

Adulthood (age 18-64)

Life Expectancy

Adulthood (age 18-64)

Elderly (age 65+)

Affected Sex(es)

Female

Intersex

Male

National Prevalence

10000+

Global Prevalence

10000+

National Incidence

Less than 10

Global Incidence

Unknown

Populations and/or ancestry with higher prevalence

Reported in European, American, Middle Eastern, African, and Asiatic families; there may be a higher prevalence in Asian families

Symptoms / Phenotypes

behavioral changes

cognitive impairment / confusion / brain fog

dementia

gait abnormalities / gait disturbance

headaches / migraines

seizures / epilepsy

stroke

Biomarkers

Diagnostic

· deposition of granular osmiophilic material (GOM) on small blood vessels

Existing Therapies

None

Therapies in Development

Antibody-based therapy (monoclonal antibodies, biologics)

· 1 passive, 1 active immunotherapies; targeting Notch3 protein

RNA interference (RNAi) therapy (siRNA, etc.)

· 1 siRNA

Repurposed drug

· 1 (small molecule X101)

Small molecule therapy (novel small molecule drugs)

Therapeutic Development Stages

In research/exploratory phase

Therapeutic Development Role

None

Organizational & Research

Cell Lines

None

Cell Lines, share

Unknown

Disease Model

None

Disease Model, share

Unknown

Organizational Challenges

None specified

Clinical Trial Role

Not involved

Biobank, Institution

None

Center of Excellence, Institution

None

Registry

Yes, we have a registry that we created

Data Collected, Registry

Genetic data

Patient contact info

Patient-reported data

Data Entered by, Registry

Patients

Platform, Registry

IAMRARE

Natural History Study

Yes, we have a natural history study that we created

Data Collected, Natural History Study

Electronic health records/electronic medical records

Genetic data

Patient-reported outcomes

Prospective data

Platform, Natural History Study

IAMRARE

FDA Patient Listening Session

FDA Patient-Focused Drug Development (PFDD) Program

ICD Codes

Yes, we have an ICD-10 code specific to our exact disease

Diagnostic Guidelines

Yes, we have guidance available on our website

Science Advisory Board Policies

Yes, willing to share SAB policies

Research Network Policies

Does not have a CRN

Patient Priority Survey

Research Roadmap

Yes we have a Research Roadmap, and will share policies

None