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 May 2024

Clinical
Disease Class
Rare genetic diseases
Body Systems
Cardiovascular / Circulatory
Nervous / Sensory
Organs
Blood vessels (veins, arteries)
Brain
Genes
NOTCH3
Type of Inheritance
Autosomal dominant
Disease Mechanism(s)
Pathogenic mutation
Age of Onset
Adulthood (age 18-64)
Incidence
Less than 10
Prevalence
10000+
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
Organizational & Research
Cell Lines
iPSCs
Cell Lines, location
Mt. Sinai
Cell Lines, share
Unknown
Disease Model
Mouse
Disease Model, location
Harvard Medical School
Jackson Laboratories (JAX)
Paris Cite University
Disease Model, share
Unknown
Clinical Trial Role
Not involved
Biobank
None
Center of Excellence
None
Registry
Yes, we have a registry that we created
Data Collected, Registry
Patient contact info
Patient-reported data
Data Entered by, Registry
Patients
Platform, Registry
Invitae Patient Insights Network
Natural History Study
Yes, we have collaborated on a natural history study
Data Collected, Natural History Study
Clinical endpoints (outcomes)
Electronic health records/electronic medical records
Genetic data
Imaging data
Medication usage
Platform, Natural History Study
Not specified
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
Yes, we have an ICD-10 code specific to our exact disease
Diagnostic Guidelines
No
Clinical/Treatment Guidelines
No
Organizational Roles
No full-time staff
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Does not have a CRN
Research Roadmap
We don't have a Research Roadmap
International Chapters
None
International Partners
None