5 research outputs found
Cross-Sectional Exploration of Plasma Biomarkers of Alzheimer's Disease in Down Syndrome: Early Data from the Longitudinal Investigation for Enhancing Down Syndrome Research (LIFE-DSR) Study
With improved healthcare, the Down syndrome (DS) population is both growing and aging rapidly. However, with longevity comes a very high risk of Alzheimer's disease (AD). The LIFE-DSR study (NCT04149197) is a longitudinal natural history study recruiting 270 adults with DS over the age of 25. The study is designed to characterize trajectories of change in DS-associated AD (DS-AD). The current study reports its cross-sectional analysis of the first 90 subjects enrolled. Plasma biomarkers phosphorylated tau protein (p-tau), neurofilament light chain (NfL), amyloid β peptides (Aβ1-40, Aβ1-42), and glial fibrillary acidic protein (GFAP) were undertaken with previously published methods. The clinical data from the baseline visit include demographics as well as the cognitive measures under the Severe Impairment Battery (SIB) and Down Syndrome Mental Status Examination (DS-MSE). Biomarker distributions are described with strong statistical associations observed with participant age. The biomarker data contributes to understanding DS-AD across the spectrum of disease. Collectively, the biomarker data show evidence of DS-AD progression beginning at approximately 40 years of age. Exploring these data across the full LIFE-DSR longitudinal study population will be an important resource in understanding the onset, progression, and clinical profiles of DS-AD pathophysiology
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ADSP follow-up study: NCRAD biospecimens
The National Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD) is collaborating with the Alzheimer's Disease Sequencing Project (ADSP) to ensure that subjects with sequencing have available biospecimens. The latest phase of the ADSP, the Follow-Up Study (ADSP-FUS), is generating sequencing on additional subjects from diverse populations and ethnic groups; many of these subjects have samples available at NCRAD for validation and extension studies.
NCRAD collects, stores, and distributes biospecimens from subjects in studies included in the ADSP-FUS, such as the National Institute on Aging Late Onset Alzheimer's Disease (NIA-LOAD) Family Based Study, the Alzheimer's Disease Neuroimaging Initiative (ADNI), and subjects accrued by Alzheimer's Disease Research Centers (ADRCs). DNA for subjects in these studies is shipped to The American Genome Center (TAGC), under the direction of Dr. Clifton Dalgard, at the Uniformed Services University of the Health Sciences (USUHS), for whole genome sequencing. NCRAD has online catalogs for many of these cohorts, including information on biospecimens as well as demographic and clinical data, to help investigators identify and request biospecimens.
NCRAD has shipped >6,000 DNA samples to USUHS for sequencing and inclusion in ADSP-FUS from subjects with additional biospecimens housed at NCRAD. Many of these subjects have unique data sets or unique phenotypes, including the >1,000 early onset Alzheimer's disease (AD) samples, 773 samples from ADNI, and >3,000 AD cases/controls with clinical and/or autopsy data. The remainder were samples from cohorts focused on diverse populations and ethnic groups. For ADNI, genomic and cell line DNA, RNA, and lymphoblastoid cell lines (LCLs) are available to approved investigators; for NIA-LOAD, genomic and cell line DNA and LCLs are available, with a subset also having peripheral blood mononuclear cells (PBMCs). For ADRC subjects, in addition to genomic or cell line DNA, RNA, plasma, serum, and PBMCs are available for select subjects. Currently, there are also iPSCs or fibroblasts available for 18 ADSP-FUS subjects. NCRAD catalogs are currently available for the ADRCs and for NIA-LOAD.
NCRAD has extensive biospecimens available for investigators interested in validation or extension studies leveraging the whole genome sequencing data available through the ADSP-FUS
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Cross-Sectional Exploration of Plasma Biomarkers of Alzheimer's Disease in Down Syndrome: Early Data from the Longitudinal Investigation for Enhancing Down Syndrome Research (LIFE-DSR) Study.
With improved healthcare, the Down syndrome (DS) population is both growing and aging rapidly. However, with longevity comes a very high risk of Alzheimer's disease (AD). The LIFE-DSR study (NCT04149197) is a longitudinal natural history study recruiting 270 adults with DS over the age of 25. The study is designed to characterize trajectories of change in DS-associated AD (DS-AD). The current study reports its cross-sectional analysis of the first 90 subjects enrolled. Plasma biomarkers phosphorylated tau protein (p-tau), neurofilament light chain (NfL), amyloid β peptides (Aβ1-40, Aβ1-42), and glial fibrillary acidic protein (GFAP) were undertaken with previously published methods. The clinical data from the baseline visit include demographics as well as the cognitive measures under the Severe Impairment Battery (SIB) and Down Syndrome Mental Status Examination (DS-MSE). Biomarker distributions are described with strong statistical associations observed with participant age. The biomarker data contributes to understanding DS-AD across the spectrum of disease. Collectively, the biomarker data show evidence of DS-AD progression beginning at approximately 40 years of age. Exploring these data across the full LIFE-DSR longitudinal study population will be an important resource in understanding the onset, progression, and clinical profiles of DS-AD pathophysiology
Cross-sectional exploration of plasma biomarkers of alzheimer\u27s disease in down syndrome: early data from the longitudinal investigation for enhancing down syndrome research (LIFE-DSR) study
With improved healthcare, the Down syndrome (DS) population is both growing and aging rapidly. However, with longevity comes a very high risk of Alzheimer\u27s disease (AD). The LIFE-DSR study (NCT04149197) is a longitudinal natural history study recruiting 270 adults with DS over the age of 25. The study is designed to characterize trajectories of change in DS-associated AD (DS-AD). The current study reports its cross-sectional analysis of the first 90 subjects enrolled. Plasma biomarkers phosphorylated tau protein (p-tau), neurofilament light chain (NfL), amyloid β peptides (Aβ1-40, Aβ1-42), and glial fibrillary acidic protein (GFAP) were undertaken with previously published methods. The clinical data from the baseline visit include demographics as well as the cognitive measures under the Severe Impairment Battery (SIB) and Down Syndrome Mental Status Examination (DS-MSE). Biomarker distributions are described with strong statistical associations observed with participant age. The biomarker data contributes to understanding DS-AD across the spectrum of disease. Collectively, the biomarker data show evidence of DS-AD progression beginning at approximately 40 years of age. Exploring these data across the full LIFE-DSR longitudinal study population will be an important resource in understanding the onset, progression, and clinical profiles of DS-AD pathophysiology