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cureCADASIL actively partners with researchers and clinicians worldwide. Explore active studies, funded research, and how to collaborate with the CADASIL community.

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🔬 Active Studies 🏛️ Consortium Study 💊 Funded Research 🧬 CZI Grant 📋 Natural History Study 📰 Research News 📅 Patient-Investigator Meeting

Active Research

Current CADASIL studies

These studies are actively enrolling or ongoing. Patient participation is critical to advancing each of them.

CZI-Funded

Chan Zuckerberg Initiative CADASIL Study

Patient-partnered collaboration led by Dr. Fanny Elahi at Icahn School of Medicine at Mount Sinai. Now in Year 3, the team is conducting in vitro drug screening and building cellular models of CADASIL to discover new therapeutic targets.

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CADASIL Community Natural History Study

A multi-site study tracking CADASIL progression to inform future clinical trials and treatment development.

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🏛️

CADASIL Consortium Study

NIH-funded natural history study enrolling 500 participants across 12 US sites. Led by Dr. Jane Paulsen, PhD. Expenses paid.

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All Active Studies

Browse all currently active CADASIL research studies seeking participants and collaborators.

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🧬

Volunteer for CZI Study

Dr. Elahi's team needs blood samples and assessments from CADASIL patients and healthy volunteers.

Volunteer now

Our Research Portfolio

Research we fund and support

cureCADASIL has funded and supported research across multiple institutions and disciplines.

💊

Funded Research

A summary of all research projects cureCADASIL has funded or co-funded since our founding.

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📰

Research News

The latest developments, publications, and breakthroughs in CADASIL research.

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🎙️

Research Webinars

Watch recorded webinars featuring CADASIL researchers presenting their latest findings.

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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.

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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.

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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.

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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.

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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 cureCADASIL patient registry is a valuable resource for researchers studying CADASIL. Contact us to learn more about data access and collaboration opportunities.

Learn about the registry →

Interested in collaborating?

Reach out to the cureCADASIL research team — we welcome new partnerships and collaborations.

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