Ongoing, international research into CADASIL is providing new insights and avenues of study that can lead to treatment options and hopefully bring us one step closer to a cure. Below are abstracts of recently published papers by pioneering researchers in the field.
If you know about any upcoming publications, please contact us so we can include them on our site: info@curecadasil.org
How to predict a CADASIL patient’s risk for stroke or dying
Studies are needed to best determine how to measure risk and outcomes that can be used to design clinical trials. In this study investigators from Paris, France, registered 482 CADASIL patients between 2003–2020; 60 (12%) had no follow-up and were excluded. They examined risk for having either a stroke or dying, whichever occurred first. During follow-up of 422 patients, 86 had a stroke and 58 died without a stroke. Among 99 possible predictors, they found 15 that predicted time to developing a stroke or dying. There was no single analytical method that dramatically outperformed the others. Additional studies with larger numbers of patients, longer follow-up, and novel measurements to better predict risk and define outcomes that matter to patients, will help in designing future therapeutic trials.
Chhoa H, Chabriat H, Chevret S, Biard L. Comparison of models for stroke‑free survival prediction in patients with CADASIL. Sci Rep. 2023 Dec 17;13(1):22443.
PMID: 38105268 DOI: 10.1038/s41598-023-49552-w
A comprehensive review of CADASIL and its management
The American Heart Association gathered a group of experts on CADASIL and other similar diseases. This group reviewed the available evidence and produced a comprehensive, state of the art, scientific statement. They concluded that individuals with CADASIL show variability in the nature and onset of symptoms and rates of progression, and that it is important to make a diagnosis early in its course. They make recommendations for patient management and future studies to identify new treatments.
Meschia et al. Management of Inherited CNS Small Vessel Diseases: The CADASIL Example: A Scientific Statement From the American Heart Association Stroke. 2023;54 e452–e464
PMID: 37602377 DOI: 10.1161/STR.0000000000000444
National & international collaborations to advance research
Research into rare diseases like CADASIL will benefit from collaboration and sharing of data. This review article describes 24 national and international efforts to advance research into vascular causes of dementia: MarkVCID, DiverseVCID, DISCOVERY, COMPASS-ND, HBC, RHU SHIVA, UK DRI
Vascular Theme, STROKOG, Meta VCI Map, ISGC, ENIGMA-Stroke Recovery, CHARGE, SVDs@target, BRIDGET, CADASIL Consortium, CADREA, AusCADASIL, DPUK, DPAU, STRIVE, HARNESS, FINESSE, VICCCS, VCD-CRE Delphi.
Saks DG, Smith EE, Sachdev PS. National and international collaborations to advance research into vascular contributions to cognitive decline. Cereb Circ Cogn Behav 2024; 6 100195
PMID 38226362 DOI: 10.1016/j.cccb.2023.100195
Peer-Reviewed Research
Scientific Literature
The following articles were selected by our board's scientific advisors and represent
some of the most current peer-reviewed research in CADASIL. They are written for
a clinical and research audience — intentionally technical, rich with data, and
rewarding for those who want to go deep into the science.
💡
Not a scientist? No worries. These papers are dense by design.
If you're a patient or caregiver looking for accessible information, our
Patient Hub is the best place to start.
01
Drug Discovery · cureCADASIL Funded
Cysteine-reactive mitigators of small vessel disease-related NOTCH3 mutants
Cartee N.M.P., Zhang X., Lee S.J., & Wang M.M. |
Scientific Reports, March 2026 |
University of Michigan / VA Ann Arbor
CADASIL mutations cause abnormal folding of the NOTCH3 protein — and this study
asked whether small chemical compounds could correct that misfolding.
Screening 21 compounds against 16 different NOTCH3 mutations, the team identified
disulfiram (Antabuse, used for alcohol dependency) and
auranofin (used for rheumatoid arthritis) as the broadest-acting
candidates. Because both are already FDA-approved, the path to clinical
testing may be meaningfully shorter than for an entirely new drug.
This research was supported in part by a grant from the University of Pennsylvania
Orphan Disease Center in partnership with cureCADASIL.
→
02
Patient-Centered Research · cureCADASIL Co-Authored
Defining patient-reported outcomes and priorities for clinical trials in CADASIL
through an international survey
Karvelas N., Connor S., Burroso A., Coale K., Lemos Duarte M., Elahi F.M., et al. |
Cerebral Circulation – Cognition and Behavior, February 2026 |
Icahn School of Medicine at Mount Sinai / cureCADASIL
Clinical trials need to measure what patients actually experience — not just
what shows up on a brain MRI. This international survey of 226 CADASIL patients
across 25 countries asked people directly what symptoms burden them most.
Fatigue emerged as both the most common and most debilitating symptom,
followed by cognitive fog and memory difficulties — findings that have been largely
absent from natural history studies. The study also documented widespread use of
unvalidated medications in the absence of evidence-based guidelines.
Several cureCADASIL members are listed as co-authors, making this a landmark
example of patient-partnered science.
→
03
Clinical Phenotyping · Multicenter Study
Sex-based differences in disease burden and phenotype in CADASIL:
a multicenter study of 368 Korean patients
Kim J.G., Choi J.C., Kang C.H., et al. |
Neurology: Genetics, March 2026 |
26 centers, South Korea (Jeju National University Hospital lead)
One of the largest studies of sex differences in CADASIL to date, this nationwide
Korean analysis found that men develop ischemic stroke at significantly
younger ages (median 53 vs. 59 years) and carry a heavier burden of brain
lesions (lacunes), while women more frequently experience recurrent headaches.
Importantly, the male stroke risk persisted even after controlling for hypertension
and smoking — suggesting sex-intrinsic biological mechanisms
(hormonal, epigenetic) are at play. These findings argue for sex-informed clinical
monitoring and trial design. The study also highlights distinct patterns in
Asian CADASIL populations, where variant distribution and hemorrhagic stroke
rates differ substantially from European cohorts.
→
04
Epidemiology · Nationwide Cohort
Early onset, high comorbidity burden, and regional disparities of CADASIL:
a nationwide cohort study in South Korea
Lee J.Y., Lee M., Lim J.S., Oh M.S., Yu K.H., Jung Y.H., et al. |
Journal of Clinical Neurology, March 2026 |
National Health Information Database, South Korea (816 CADASIL patients)
Drawing on South Korea's national health insurance database — covering 97% of the
population — this study provides one of the most comprehensive epidemiological
portraits of CADASIL to date. Key findings: CADASIL patients developed every
neurological condition studied (stroke, dementia, epilepsy, depression)
earlier and more frequently than matched controls, and carried
significantly higher overall comorbidity burdens. The island of Jeju showed an
incidence more than 21 times the national average, consistent
with a founder effect around the R544C NOTCH3 variant.
This work underscores the need for earlier and more comprehensive clinical
monitoring across the full spectrum of CADASIL manifestations — not just stroke.
→
CADASIL Research Library
Looking for more? Our Science Officer curates an ongoing library of peer-reviewed
CADASIL literature — searchable and filterable by topic, updated as new research
is published.
Browse the Research Library
Collaborate With Us
Partner with the CADASIL community
cureCADASIL actively facilitates connections between researchers, clinicians, and the patient community.
Elahi Lab — Mount Sinai Collaboration
Dr. Fanny Elahi and Dr. Anne Joutel at INSERM in Paris have announced a formal collaboration to advance CADASIL biomarker development and drug discovery. Their partnership includes sharing of biospecimens and experimental model systems.
Visit the Elahi Lab →
2026 Patient-Investigator Meeting
Our annual meeting brings together patients, caregivers, and leading researchers for a day of presentations, discussion, and collaboration. Researchers are encouraged to present and engage directly with the patient community.
Learn about the 2026 meeting →
Patient Registry & Data Access
The CADASIL Community Natural History Study is a valuable resource for researchers studying CADASIL. Contact us to learn more about data access and collaboration opportunities.
Learn about the registry →