{"id":10453,"date":"2026-07-29T07:00:00","date_gmt":"2026-07-29T14:00:00","guid":{"rendered":"https:\/\/keck.usc.edu\/news\/?p=10453"},"modified":"2026-07-30T08:48:17","modified_gmt":"2026-07-30T15:48:17","slug":"blood-tests-for-alzheimers-disease-work-in-people-with-down-syndrome-study-finds","status":"publish","type":"post","link":"https:\/\/keck.usc.edu\/news\/blood-tests-for-alzheimers-disease-work-in-people-with-down-syndrome-study-finds\/","title":{"rendered":"Blood tests for Alzheimer\u2019s disease work in people with Down syndrome, study finds"},"content":{"rendered":"\n

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Blood tests for Alzheimer\u2019s disease work in people with Down syndrome, study finds<\/h1>\n\n\n<\/div>\n \n \n
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Two widely used tests for early markers of the disease can be effective for an understudied population at high risk, according to research led by the Keck School of Medicine of USC.<\/p>\n\n\n\n<\/div>\n \n

\n Wayne Lewis<\/span>\n \n July 29, 2026<\/span>\n <\/div>\n \n \n
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New blood tests that detect early changes associated with Alzheimer\u2019s disease are making diagnosis easier and accessible to more patients, since they are less invasive than the brain scans or spinal taps typically used for a definitive diagnosis. Identifying the condition in its earlier stages means drugs that slow progression may have the chance to provide greater benefit.\u00a0<\/span><\/p>\n

However, one group of people at elevated risk is rarely included in testing advances.\u00a0<\/span><\/p>\n

Alzheimer\u2019s incidence is dramatically higher in people with Down syndrome. Yet Lumipulse G p-tau217\/\u03b2-Amyloid 1-42, the blood test approved by the Food and Drug Administration in 2025 to aid in the diagnosis of Alzheimer\u2019s disease, is not available to them because it hasn\u2019t been studied in that population.<\/span><\/p>\n

Scientists at the <\/span>USC Epstein Family Alzheimer\u2019s Therapeutic Research Institute<\/span><\/a> aim to change that. A new USC-led study in the journal <\/span>Communications Medicine<\/span><\/a> is the first to engage participants with Down syndrome to evaluate Lumipulse G p-tau217 and PrecivityAD2, a second blood test already in wide use for research. The researchers found that both are effective in detecting Alzheimer\u2019s pathology in this population.<\/span><\/p>\n

\u201cThese blood tests are revolutionizing the field,\u201d said corresponding author <\/span>Michael Rafii, MD, PhD<\/span><\/a>, professor of clinical neurology at the <\/span>Keck School of Medicine of USC<\/span><\/a> and medical director of the USC Epstein Family Alzheimer\u2019s Therapeutic Research Institute. \u201cOur work is one step toward making them available to people with Down syndrome. We\u2019re encouraging clinicians to use the tests to help families understand the basis for symptoms they might be observing.\u201d<\/span><\/p>\n

The link between Alzheimer\u2019s disease and Down syndrome<\/b><\/h2>\n

In Alzheimer\u2019s disease, protein clumps called amyloid cause chemical changes in the tau proteins that act as brain cells\u2019 scaffolding and transport system. These changes damage the tau proteins, causing them to clump together and tangle, leading to nerve cell death.\u00a0<\/span><\/p>\n

Down syndrome is caused by duplicated genetic material, and that same duplication also causes higher levels of amyloid plaques. By age 40, almost all people with Down syndrome have amyloid plaques in their brain. Not all will develop Alzheimer\u2019s, but lifetime risk exceeds 90%. The disease is also the leading cause of death in people with Down syndrome over 35.<\/span><\/p>\n

Because of these connections, some of our fundamental understanding of Alzheimer\u2019s surfaced in research about Down syndrome.<\/span><\/p>\n

\u201cBeing inclusive of this group is not only a scientific imperative, but also an ethical one,\u201d said Rafii, director of medical safety for the <\/span>Alzheimer\u2019s Clinical Trials Consortium<\/span><\/a> and co-director of the clinical core for the <\/span>Alzheimer\u2019s Disease Neuroimaging Initiative<\/span><\/a>. \u201cThis population taught us so much about the biology of Alzheimer\u2019s. It\u2019s sad, and wrong, to see them excluded from clinical trials.\u201d<\/span><\/p>\n

Investigating blood tests for Alzheimer\u2019s in people with Down syndrome<\/b><\/h2>\n

The study, done in collaboration with scientists at the University of Madison\u2013Wisconsin and C2N Diagnostics, which makes PrecivityAD2, involved 39 participants with Down syndrome.\u00a0<\/span><\/p>\n

Blood from each participant was tested with both the Lumipulse G ptau-217 and the PrecivityAD2 blood tests, which measure amyloid buildup and an altered form of tau protein, known as p-tau217, that is associated with Alzheimer\u2019s disease. Each participant also underwent positron-emission tomography (PET), an imaging scan that is considered the gold standard for Alzheimer\u2019s diagnosis.\u00a0<\/span><\/p>\n

The investigators found both blood tests accurately detected the presence of abnormal levels of amyloid plaques in the brain.<\/span><\/p>\n

Applying advanced statistical techniques to their findings, the investigators established preliminary thresholds for people with Down syndrome that differentiated between those with or without Alzheimer\u2019s pathology in the brain \u2014 and did so with nearly the same accuracy as in the general population.<\/span><\/p>\n

An easier path to an Alzheimer\u2019s disease diagnosis<\/b><\/h2>\n

Currently, there are two Alzheimer\u2019s diagnostics available for people with Down syndrome: One is an amyloid PET scan, which is typically offered only at larger or specialized medical centers and involves minor exposure to radiation. The other involves evaluating the fluid that circulates between the brain and the spine, which is gathered through lumbar puncture.<\/span><\/p>\n

\u201cThe blood test is much more accessible as a screening test,\u201d said first author Zinayida Schlachetzki, MD, PhD, clinical research program administrator at the USC Epstein Family Alzheimer\u2019s Therapeutic Research Institute. \u201cIt is easier to perform, less expensive and readily scalable, and it places substantially less burden on patients.\u201d<\/span><\/p>\n

In individuals from the general population, positive blood-based results are confirmed with amyloid PET imaging. These findings suggest that a similar approach could be applied to people with Down syndrome, as the blood tests showed a very low rate of false-negative results.<\/span><\/p>\n

\u201cThere\u2019s a huge value to families in ruling out Alzheimer\u2019s disease,\u201d Rafii said. \u201cDoctors can then search after some other cause for the symptoms, such as untreated depression or undiagnosed sleep apnea.\u201d<\/span><\/p>\n

Making clinical trials for Alzheimer\u2019s disease more inclusive<\/b><\/h2>\n

The researchers plan to evaluate the blood tests and diagnostic thresholds in a larger Down syndrome cohort.\u00a0<\/span><\/p>\n

In the meantime, the current results will have immediate impact on research. Next month, the investigators will launch a clinical trial of an FDA-approved Alzheimer\u2019s treatment, donanemab, in people with Down syndrome, and blood testing for elevated brain amyloid will be used to select eligible participants.<\/span><\/p>\n

\u201cWe\u2019re excited to bring leading-edge science to this population,\u201d Rafii said. \u201cIf you have a family member with Down syndrome, know that there\u2019s hope on the horizon for an accurate blood test to help discern whether any symptoms they show are because of Alzheimer\u2019s disease or something else.\u201d<\/span><\/p>\n

About the study<\/b><\/h2>\n

Other study co-authors are Oliver Langford, Michael Donohue, Xiaoyu Zhou, Sonal Sukreet, Sara Abdel-Latif and Robert Rissman, all of USC; Matthew Zammit of the University of Wisconsin\u2013Madison; and Joel Braunstein of C2N Diagnostics.<\/span><\/p>\n

The study was supported by the National Institutes of Health [R61AG066543].\u00a0<\/span><\/p>\n\n\n\n<\/div>\n <\/div>\n\n\n <\/div><\/div>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":278,"featured_media":10454,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"advgb_blocks_editor_width":"","advgb_blocks_columns_visual_guide":"","footnotes":"","_links_to":"","_links_to_target":""},"categories":[6],"tags":[489,476,446,169,20,103],"class_list":["post-10453","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-press-release","tag-alzheimers-disease","tag-brain-health","tag-homepage","tag-latest","tag-research","tag-alzheimers-therapeutic-research-institute"],"acf":[],"yoast_head":"\nBlood tests for Alzheimer\u2019s disease work in people with Down syndrome, study finds<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, 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