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Author Notes:

Email: jhendrix@lumindidsc.org

Conceptualization: J.A.H., J.L.D.; Methodology: D.C.A., J.L.D., N.K.P., J.A.Z.; Formal Analysis: D.C.A., J.L.D., J.A.Z.; Investigation: J.A.H.; Resources: H.H.; Data Curation: J.M., J.N.-J.; Writing–Original Draft Preparation: J.A.H., J.A.Z.; Writing–Review & Editing: All Authors; Visualization: D.C.A.; Project Administration: A.B., R.C., C.L.E., D.L.L., C.R., K.S., H.H.F., W.M., K.M.F., T.M.F., K.W.; Funding Acquisition: H.H. All authors have read and agreed to the published version of the manuscript.

D.A., J.L.D., N.K.P. and J.Z. are full-time employees and minor shareholders of Eli Lilly and Company. Lilly is exploring commercialization opportunities for the Lilly p-tau217 blood test. The remaining authors declare no conflicts of interest.


Research Funding:

The LIFE-DSR study is funded by the LuMind IDSC Foundation. Eli Lilly provided the analysis of the plasma biomarkers to LuMind IDSC as an in-kind contribution. Samples from the National Centralized Repository for Alzheimer’s Disease and Related Dementias (NCRAD), which receives government support under a cooperative agreement grant (U24 AG21886) awarded by the National Institute on Aging (NIA), were used in this study. We thank contributors who collected samples used in this study, as well as patients and their families, whose help and participation made this work possible.


  • Science & Technology
  • Life Sciences & Biomedicine
  • Medicine, General & Internal
  • General & Internal Medicine
  • Down syndrome
  • Alzheimer&#8217
  • s disease
  • blood biomarkers
  • phosphorylated tau protein
  • amyloid &#946
  • peptide
  • neurofilament light chain
  • glial fibrillary acidic protein

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

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Journal Title:



Volume 10, Number 9


Type of Work:

Article | Final Publisher PDF


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 Examina-tion (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 ap-proximately 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.

Copyright information:

© 2021 by the authors.

This is an Open Access work distributed under the terms of the Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by/4.0/rdf).
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