cureCADASIL partnered with the National Organization for Rare Disorders (NORD®) to build the CADASIL Community Natural History Study — a registry designed to track how CADASIL affects real people over time, not just capture a single snapshot. The study launched in February 2026, and a summary of information collected from the registry so far is presented below.
Why Your Registration Matters
One of the biggest barriers the CADASIL community faces is that pharmaceutical companies are often reluctant to invest in developing new treatments for rare diseases without information about the disease and its progression and without access to patients who can help identify targets (or clinical goals) for treatment and participate in clinical trials.
Every person who enrolls in the registry helps change that story. The registry surveys, if completed by many patients, will communicate to potential drug development partners that we are ready. For rare diseases, every person counts. The more participants and data, the more we help advance research and demonstrate to drug development partners that our community is organized and can help facilitate therapeutic drug development. Whether you've been diagnosed with CADASIL or are an at-risk blood relative, your registration adds to the case that this disease deserves attention and investment.
CADASIL Community Natural History Study
Registry Activity
Early Results Are Already Making a Difference. Although the registry is still in its early stages, the information collected so far is already helping researchers better understand the CADASIL community. These findings highlight important patterns in diagnosis, symptoms, treatment, quality of life, and participation in research. As more people enroll — and as current participants complete all applicable surveys — the data will become even more valuable for guiding research, attracting therapeutic development, and improving care for everyone affected by CADASIL.
What We're Learning So Far
- Almost 90% of participants received a genetic test as part of their diagnosis.
- For nearly half of participants, it took 5+ years from first symptoms to an actual CADASIL diagnosis — underscoring how important awareness and earlier recognition remain.
- 77% of participants are still able to live independently.
- 42% of participants have been hospitalized for stroke, TIA, migraine, or seizure.
- Anxiety (56%) and depression (46%) are the most commonly reported co-occurring conditions — a reminder that CADASIL's impact goes beyond physical symptoms.
- 34% of individuals started the registry enrollment process but did not complete it. And, of those who completed the enrollment process, 25% did not complete the surveys. We appeal to these individuals to complete the enrollment process and respond to all applicable surveys.
The registry is already attracting strong participation, but some individuals have not completed enrollment or all applicable surveys. Completing every step ensures that each person's experience becomes part of the data researchers can use.
Where Registrants Stand
Survey Completion Among 87 Participants
Every completed survey helps researchers build a more complete picture of CADASIL. Completion declines on later surveys. If you have already enrolled, please return and finish any remaining surveys.
* Survey applicable to participants with a genetic test result report.
Gender
Race
Age at Diagnosis
Time From First Symptoms to Diagnosis
Nearly half of participants waited five years or more between their first symptoms and an actual CADASIL diagnosis — a strong reminder of why awareness and earlier recognition matter.
Prevalence of Key Symptoms
Other Commonly Reported Conditions
Anxiety and depression are the two most commonly reported co-occurring conditions — a reminder that CADASIL's impact reaches well beyond physical symptoms.
Participants are asked to rate how often they experience things like difficulty carrying out multi-step tasks, needing more time for everyday activities, losing confidence, or walking more slowly than they used to. This full picture — not just a diagnosis code — is exactly the kind of data that helps researchers and drug developers understand what actually matters to people living with CADASIL day to day.
Number of Medications & Supplements Taken
Half of participants aren't yet connected to any of these other efforts — a real opportunity to grow the research network around every person in the registry.
Read the Full Registry Results Report
This page highlights key findings from the CADASIL Community Natural History Study. For the complete presentation and additional detail, view the full Registry Results Report.
Read the Full Registry Results ReportSupport the Research
Every gift — big or small — goes directly toward advancing CADASIL research and supporting families affected by this disease.
Donate NowJoin the Community
Connect with others living with CADASIL, find support resources, and stay up to date on research and events.
Visit the Patient HubThe CADASIL Community Natural History Study is developed in partnership with the National Organization for Rare Disorders (NORD®).