It takes a global village! Join a study and partner with us on the discovery journey to prevent dementia
Our team uses human biological samples (blood, cerebrospinal fluid, and brain tissue) to advance the understanding of brain blood vessel disease, its links to the immune system, and the combined effects on brain dysfunction. We use the samples that you donate to develop transformative ways of detecting early disease. Early detection is essential for discovery of treatments. We hope to make breakthrough discoveries that will help people at risk for or living with CADASIL, and leverage what we discover in CADASIL to advance understanding of causes of brain vascular dysfunction in more common disorders such as Alzheimer’s disease, frontotemporal dementias, and Parkinson’s related disorders. We use multiple molecular and imaging tools and advanced analytical methods such as AI/ML to make discoveries. Our goal is for our to prevent dementia. It takes a global village to get there and we are fortunate to be in an amazing village with all the tools we would need to work on this important global problem.
Individuals who have or are at risk for CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy).
Anyone with genetic changes in NOTCH3, HTRA1, COL4A, TREX1, GLA, or other genes causing small vessel disease or leukodystrophy (commonly called white matter disease on brain imaging reports). Family members (with or without confirmed genetic changes). Carriers of APOE4.
Individuals diagnosed with moderate-severe white matter disease of unknown cause or a strange pattern of white matter disease.
Anyone with family history of significant white matter disease or risk of leukodystrophy or leukoencephalopathy.
VascBrain a study of CADASIL and white matter disease is enrolling participants
Who can enroll in VascBrain
If you are interested in participating in this study, please contact our clinical research team at ruth.axton@mssm.edu for more information.
Individuals diagnosed with the behavioral variant of frontotemporal dementia (bvFTD), or bvFTD with motor neuron disease (bvFTD-MND).
Individuals diagnosed with the semantic variant of primary progressive aphasia (svPPA), or the nonfluent variant of primary progressive aphasia (nfvPPA).
Family members (with or without symptoms and/or diagnosis) are also welcome.
Individuals diagnosed with progressive supranuclear palsy (PSP) or corticobasal syndrome (CBD-S).
ALLFTD a nation-wide study of FTD is enrolling participants at Mount Sinai
Who can enroll in ALLFTD
If you are interested in participating in this study, please contact our clinical research team at ruth.axton@mssm.edu for more information.
Individuals and family members (with or without symptoms and/or diagnosis) carrying mutations in known FTLD genes.
What to expect at a research visit
All participants will have a neurological examination and cognitive test, share their story, and donate blood. Brain imaging (MRI), eye imaging, and lumbar puncture for collection of cerebrospinal fluid are optional. We also have a brain donation program that we can discuss with you.
Short in-person study
You come to Mount Sinai, share your story, get a neurological examination & cognitive testing, and donate a blood sample.
Full study
You complete an in-person visit and one or more of the optional components (MRI, retinal scans, lumbar puncture). You will also be able to participate in our remote cohort by installing a game-based app on a smartphone.
Short Remote study
You share your story & do a brief cognitive test by video (~30 mins). We guide you to instal a game-based app on a smartphone to take quick cognitive tests from the comfort of your home. Optional: we send a phlebotomist to your home to draw your blood and ship it to us.
Other studies we collaborate on scientifically (currently not enrolling at Mount Sinai)
Diverse VCID (Diverse Vascular Contributions to Cognitive Impairment and Dementia) is a 6-year multi-site study of 2,250 Americans from diverse backgrounds to understand the role of incidental white matter disease in developing dementia. Our lab is leading a blood biomarker project for this study.
MarkVCID (bioMarkers for Vascular Contributions to Cognitive Impairment and Dementia) is a multi-site study dedicated to validating predictive, diagnostic, target engagement and progression biomarkers of cerebral small-vessel disease. Elahi co-chairs the fluid biomarker committee and our lab collaborates on biomarker development in this consortium.
Brain donations—giving to bring hope for a future without disease
