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A chromosomal disorder consisting of the presence of an extra chromosome 21.
Biomarker and diagnostic research for trisomy 21 has been reported in the published literature.
16 clinical trials registered, 10 recruiting. Interventions under study include other interventions, drug therapy, medical devices, and procedural interventions. Pipeline includes 1 PHASE4, 1 PHASE3, 2 PHASE2. Research is sponsored by a mix of industry and academic institutions.
NCT ID | Title | Phase | Sponsor | Status |
|---|---|---|---|---|
[NCT05527652](https://clinicaltrials.gov/study/NCT05527652) |
Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 1:47 PM UTC
Self-Supporting Nasopharyngeal Airway (ssNPA) Treating Upper Airway Obstruction in Hypotonia |
NA |
University of Michigan |
RECRUITING |
[NCT07234695](https://clinicaltrials.gov/study/NCT07234695) | LEvetiracetam to Prevent Seizures in Symptomatic Alzheimer's Disease in Adults With Down Syndrome | PHASE3 | Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau | RECRUITING |
[NCT02864108](https://clinicaltrials.gov/study/NCT02864108) | The Human Trisome Project | — | University of Colorado, Denver | RECRUITING |
[NCT07195253](https://clinicaltrials.gov/study/NCT07195253) | Oro-myofunctional Characteristics and Obstructive Sleep Apnea in Infants With Down Syndrome | — | Hospices Civils de Lyon | RECRUITING |
[NCT05970965](https://clinicaltrials.gov/study/NCT05970965) | Periodontitis and Inflammation in Children With Down Syndrome/Trisomy 21: Study on Biological Samples | NA | Assistance Publique - Hôpitaux de Paris | RECRUITING |
268 publications have been identified in PubMed for trisomy 21. Research spans Basic Science / Preclinical (27%), Review / Meta-Analysis (16%), and Case Report / Case Series (16%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 72 | 27% |
Research summaries | 44 | 16% |
Patient case studies | 42 | 16% |
Testing and diagnosis research | 41 | 15% |
Disease patterns and progression | 41 | 15% |
Clinical study results | 15 | 6% |
New treatment approaches | 7 | 3% |
Other research | 6 | 2% |
Wulveryck C (2026). [PMID: 41534657](https://pubmed.ncbi.nlm.nih.gov/41534657/). *J Gynecol Obstet Hum Reprod*. [Diagnostic / Biomarker]
Bertaux NJ (2026). [PMID: 42102959](https://pubmed.ncbi.nlm.nih.gov/42102959/). *J Pediatr Surg*. [Clinical Trial Publication]
Rajab A (2026). [PMID: 41785191](https://pubmed.ncbi.nlm.nih.gov/41785191/). *Cytogenet Genome Res*. [Epidemiology / Natural History]
Gudi H (2026). [PMID: 41521085](https://pubmed.ncbi.nlm.nih.gov/41521085/). *Semin Roentgenol*. [Review / Meta-Analysis]
Salih MA (2026). [PMID: 41836663](https://pubmed.ncbi.nlm.nih.gov/41836663/). *Front Psychiatry*. [Other]
Tosun D (2026). [PMID: 41299851](https://pubmed.ncbi.nlm.nih.gov/41299851/). *Clin Pediatr (Phila)*. [Case Report / Case Series]
Shah M (2026). [PMID: 29083768](https://pubmed.ncbi.nlm.nih.gov/29083768/). *Unknown Journal*. [Basic Science / Preclinical]
Baxter LL (2026). [PMID: 41889986](https://pubmed.ncbi.nlm.nih.gov/41889986/). *bioRxiv*. [Basic Science / Preclinical]
Bhatnagar N (2026). [PMID: 41475411](https://pubmed.ncbi.nlm.nih.gov/41475411/). *Neoreviews*. [Review / Meta-Analysis]
Cattoni A (2026). [PMID: 41452440](https://pubmed.ncbi.nlm.nih.gov/41452440/). *J Endocrinol Invest*. [Epidemiology / Natural History]
AI-curated news mentioning trisomy 21
Updated Apr 11, 2026
A recent study highlights discrepancies in prenatal diagnostics related to a case of fetal partial trisomy 21 and fetoplacental mosaicism. This research could impact future prenatal screening practices and genetic counseling.