Down Syndrome in a New Era for Alzheimer Disease
Open accessAbstract
This Viewpoint explains the genetic association between Alzheimer disease and Down syndrome and the negative impact of excluding people with Down syndrome from clinical trials on treatment for Alzheimer disease.
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The Down syndrome population has generally been excluded from research on sporadic Alzheimer's disease.
“While significant gains have been made during the past 20–30 years toward increasing understanding of the causes, risk factors, and potential treatment of sporadic AD, the DS population has generally been excluded from this work. 8”
From The Alzheimer's Biomarker Consortium–Down Syndrome (ABC‐DS): A 10‐year report (2025) · cites this paper as [8]
In “Down Syndrome in a New Era for Alzheimer Disease” (page unavailable), the paper says adults with Down syndrome were not included in the large trials of recently approved Alzheimer disease treatments and that few Alzheimer disease trials have included them. That supports exclusion from treatment trials, but not the broader claim that they were generally excluded from 20–30 years of research into sporadic Alzheimer disease’s causes and risk factors; the paper also describes recent Down syndrome biomarker studies. (LLM, conf=0.84)
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Cites
Lecanemab: Appropriate Use Recommendations
Cummings, J., Apostolova, L., Rabinovici, G. D., Atri, A., Aisen, P., Greenberg, S., Hendrix, S., Selkoe, D., Weiner, M., Petersen, R. C., et al. (2023) · The Journal of Prevention of Alzheimer's Disease · doi:10.14283/jpad.2023.30 · Cited by 961 · see citing works
Alzheimer's disease associated with Down syndrome: a genetic form of dementia
Fortea, J., Zaman, S. H., Hartley, S., Rafii, M. S., Head, E., & Carmona-Iragui, M. (2021) · The Lancet Neurology · doi:10.1016/s1474-4422(21)00245-3 · Cited by 357 · see citing works
Self-citationAssociation of Alzheimer Disease With Life Expectancy in People With Down Syndrome
Iulita, M. F., Garzón Chavez, D., Klitgaard Christensen, M., Valle Tamayo, N., Plana-Ripoll, O., Rasmussen, S. A., Roqué Figuls, M., Alcolea, D., Videla, L., Barroeta, I., et al. (2022) · JAMA Network Open · doi:10.1001/jamanetworkopen.2022.12910 · Cited by 195 · see citing works
Self-citationBoerwinkle, A. H., Gordon, B. A., Wisch, J., Flores, S., Henson, R. L., Butt, O. H., McKay, N., Chen, C. D., Benzinger, T. L. S., Fagan, A. M., et al. (2023) · The Lancet Neurology · doi:10.1016/s1474-4422(22)00408-2 · Cited by 55 · see citing works
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Research works printed but not linked: 5
- [1]van Dyck CH, Swanson CJ, Aisen P, Lecanemab in early Alzheimer’s disease. N Engl J Med. 2023; 388(1): 9– 21. doi: 10.1056/NEJMoa2212948 36449413 · DOI · Paper page
- [2]Sims JR, Zimmer JA, Evans CD,; TRAILBLAZER-ALZ 2 Investigators. Donanemab in early symptomatic Alzheimer disease: the TRAILBLAZER-ALZ 2 randomized clinical trial. JAMA. 2023; 330(6): 512– 527. doi: 10.1001/jama.2023.13239 37459141 PMC10352931 · DOI · Paper page
- [5]Carmona-Iragui M, Balasa M, Benejam B, Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer’s disease. Alzheimers Dement. 2017; 13(11): 1251– 1260. doi: 10.1016/j.jalz.2017.03.007 28463681 PMC5660938 · DOI
- [7]Clift AK, Coupland CAC, Keogh RH, Hemingway H, Hippisley-Cox J. COVID-19 mortality risk in Down syndrome: results from a cohort study of 8 million adults. Ann Intern Med. 2021; 174(4): 572– 576. doi: 10.7326/M20-4986 33085509 PMC7592804 · DOI
- [8]Joseph-Mathurin N, Llibre-Guerra JJ, Li Y,; Dominantly Inherited Alzheimer Network Trials Unit. Amyloid-related imaging abnormalities in the DIAN-TU-001 trial of gantenerumab and solanezumab: lessons from a trial in dominantly inherited Alzheimer disease. Ann Neurol. 2022; 92 (5): 729– 744. doi: 10.1002/ana.26511 36151869 PMC9828339 · DOI
Cited by
Sorted by citations
The Alzheimer's Biomarker Consortium–Down Syndrome (ABC‐DS): A 10‐year report
Handen, B. L., Mapstone, M., Hartley, S., Andrews, H., Christian, B., Lee, J. H., Tudorascu, D., Hom, C., Ances, B. M., Zaman, S., et al. (2025) · Alzheimer's & Dementia · doi:10.1002/alz.70294 · Cited by 29 · see citing works
Decoding brain structure to stage Alzheimer's disease pathology in Down syndrome
Kennedy, J. T., Wisch, J. K., Dincer, A., Roman, J., Gordon, B. A., Handen, B., Benzinger, T. L. S., Head, E., Mapstone, M., Christian, B. T., et al. (2025) · Alzheimer's & Dementia · doi:10.1002/alz.14519 · Cited by 7 · see citing works
- Authors
- Rafii, M. S., & Fortea, J.
- Affiliations
- University of Southern California (US)
- Hospital de Sant Pau (ES)
- Venue
- JAMA
- Publisher
- American Medical Association (AMA)
- Published
- 2023-12-12
- Volume
- 330
- Issue
- 22
- Pages
- 2157
- ISSN
- 0002-9955 (ISSN-L)
- 0098-7484
- PMC
- PMC11324235
- OpenAlex
- W4388896099
- Cited by
- 44
- References
- 4
- Citations by year
- 2026: 7 · 2025: 22 · 2024: 15
- FWCI
- 11.26
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- JAMA (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute on Aging (R61AG066543)
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Keywords
- Down syndrome, Alzheimer's disease, genetic association, clinical trial inclusion, dementia treatment
- MeSH terms
- Alzheimer Disease, Down Syndrome, Humans
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