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Abstract Details

Unraveling the Earliest Phases of Vascular Cognitive Impairment and Dementia by Establishing a Large USA CADASIL Consortium
Aging, Dementia, and Behavioral Neurology
P6 - Poster Session 6 (8:00 AM-9:00 AM)
9-012
To characterize the initial presentation and course of clinical, neuroimaging, and blood markers of presymptomatic to early/moderate symptomatic NOTCH3 carriers and compare them with non-carrier family member controls and to clarify genetic, health, and lifestyle factors which impact clinically meaningful outcomes in CADASIL.

CADASIL, caused by pathogenic variants in NOTCH3, is the most common monogenic cause of vascular dementia. Persons with CADASIL have a very high risk of developing vascular cognitive impairment and dementia (VCID), which can be studied in presymptomatic/early disease stages to detect the first changes in biological fluids, neuroimaging, and the emerging phenotype of VCID. Currently, there is little cross-sectional or longitudinal data from large USA CADASIL cohorts. Better understanding of the clinical progression and identifying biomarkers in CADASIL is needed to develop future treatment trials.

We are establishing an NIH/NIA-funded (RF1AG074608) longitudinal cohort of 400 NOTCH3 carriers and 100 non-carrier family members across 12 USA sites. Participants undergo systematic clinical, cognitive (standard & tablet-based), advanced neuroimaging, and blood-based phenotyping, to identify optimal biomarkers, with an aim to determine the lowest sample size estimates needed for clinical trials. Several assessments, including for quality of life (QOLs), will be compared to assess which best track disease progression.
Despite COVID-19-related issues, recruitment has begun at all 12 sites. Thus far, more than 140 participants have enrolled with most having all measures assessed. Initial imaging analyses are also being submitted for presentation.
We hope to show that conducting such a large, multisite study in a rare disease is possible in the USA and will determine improved clinical outcome assessments in CADASIL. The data generated will be essential to design cost-effective, successful clinical trials in CADASIL and other vascular dementias.   
Authors/Disclosures
Michael D. Geschwind, MD, PhD, FAAN (UCSF)
PRESENTER 		Dr. Geschwind has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Brainstorm Cell Therapeutics, Inc.. Dr. Geschwind has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Walter Grubb. Dr. Geschwind has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Gerson Lehrman Group. Dr. Geschwind has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Reata Pharmaceuticals, Inc..
Jose Biller, MD, FACP, FAHA, FAAN (Loyola University Stritch School of Medicine) Dr. Biller has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Wolters Kluwer. Dr. Biller has received publishing royalties from a publication relating to health care.
Jamie Elliott, MD, PhD Dr. Elliott has nothing to disclose.
Suman Jayadev, MD (University of Washington Medical Center) Dr. Jayadev has nothing to disclose.
Stephen P. Salloway, MD, MS (Brown Medical School) Dr. Salloway has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Biogen. Dr. Salloway has received personal compensation in the range of $500-$4,999 for serving as a Consultant for EISAI. Dr. Salloway has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Lilly. Dr. Salloway has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Genentech. Dr. Salloway has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for NovoNordisk. Dr. Salloway has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Prothena. Dr. Salloway has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Roche. Dr. Salloway has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Neurophet. Dr. Salloway has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Acumen. Dr. Salloway has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Kisbee. Dr. Salloway has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Bristol Myers Squibb. Dr. Salloway has received personal compensation in the range of $500-$4,999 for serving as a Consultant for CognitionRX. Dr. Salloway has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Icometrix. Dr. Salloway has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Acumen. Dr. Salloway has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Merck.
Jose Gutierrez, MD (Columbia University) Dr. Gutierrez has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Cardiovascular Research Foundation. Dr. Gutierrez has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for White and Rusell. Dr. Gutierrez has received research support from NIH. Dr. Gutierrez has received publishing royalties from a publication relating to health care. Dr. Gutierrez has received publishing royalties from a publication relating to health care.
Sudha Seshadri, MD, FAAN (Glenn Biggs Institute for Alzheimer'S and Neurodegenerative Diseases) Dr. Seshadri has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Eisai. Dr. Seshadri has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. The institution of Dr. Seshadri has received research support from NIH. The institution of Dr. Seshadri has received research support from Alzheimer Association.
Jennifer J. Majersik, MD, FAAN (University of Utah) Dr. Majersik has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Stroke. The institution of Dr. Majersik has received research support from NIH/NINDS. The institution of Dr. Majersik has received research support from NIH/NCATS.
Karen D. Orjuela, MD, FAAN (University of Colorado - Anschutz Medical Center) The institution of Dr. Orjuela has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for American Heart Association. Dr. Orjuela has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Elsevier. The institution of Dr. Orjuela has received research support from Abbott. The institution of Dr. Orjuela has received research support from NIH . The institution of Dr. Orjuela has received research support from Bristol Myers Squibb Foundation. The institution of Dr. Orjuela has received research support from American Heart Association and Bristol Myers Squibb Foundation.
David S. Liebeskind, MD, FAAN (Neurovascular Imaging Research Core at UCLA) Dr. Liebeskind has received research support from Cerenovus. Dr. Liebeskind has received research support from Genentech . Dr. Liebeskind has received research support from Medtronic. Dr. Liebeskind has received research support from Stryker.
Helmi L. Lutsep, MD, FAAN (Oregon Health & Science University) Dr. Lutsep has received personal compensation in the range of $0-$499 for serving as a Consultant for Abbott. Dr. Lutsep has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for BMS. Dr. Lutsep has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Coherex Medical. Dr. Lutsep has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for NINDS/Mayo Cinic. Dr. Lutsep has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Medscape Neurology.
Ihab Hajjar Ihab Hajjar has nothing to disclose.
Fanny M. Elahi, MD, PhD Dr. Elahi has nothing to disclose.
Henry J. Bockholt (Georgia State University) The institution of Henry Bockholt has received research support from NIH. The institution of an immediate family member of Henry Bockholt has received research support from NIH.
Jane S. Paulsen, PhD (University of Wisconsin, Madison) Dr. Paulsen has received personal compensation in the range of $0-$499 for serving as a Consultant for CHDI. Dr. Paulsen has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Wave Life Sciences. Dr. Paulsen has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for HDSA. The institution of Dr. Paulsen has received research support from NIH/NIA. The institution of Dr. Paulsen has received research support from NIH/NINDS.