Findings from the NIH CADASIL disease discovery study

Elisa Ferrante, PhD, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, talks through the findings of the NIH CADASIL disease discovery study. Given the rarity of CADASIL, the occurrence of numerous disease-causing variants spanning the NOTCH3 gene, and the significant heterogeneity in phenotype, much remains unknown about the molecular mechanisms at play. The NIH natural history study was undertaken to shed light on potential genotype-phenotype correlations and to collect samples for biomarker discovery research and the creation of patient cell lines for in vitro disease modeling. 19 patients with a confirmed genetic CADASIL diagnosis were enrolled in the study, consisting of 3 comprehensive evaluations at yearly intervals. Patients underwent detailed blood vessel evaluation, genetic testing, physical examination, brain imaging, and neuropsychometric testing. Dr Ferrante discuses some of the key findings of the study, including the significant genetic heterogeneity seen, the presence of decreased vascular stiffness compared to age-matched controls, and changes in psychomotor function as the most affected domain in psychomotor testing. An expansion of the study is now underway, which will continue to follow up participants, as well as recruiting an additional 80 patients to follow over a 9-year period. This interview took place during the International Stroke Conference 2024 in Phoenix, AZ.
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