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A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number.
Biomarker and diagnostic research for trisomy has been reported in the published literature.
26 clinical trials registered, 15 recruiting. Interventions under study include other interventions, drug therapy, medical devices, and procedural interventions. Pipeline includes 1 PHASE4, 1 PHASE3, 3 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 Oct 3, 2026, 3:20 AM UTC
Self-Supporting Nasopharyngeal Airway (ssNPA) Treating Upper Airway Obstruction in Hypotonia |
NA |
University of Michigan |
RECRUITING |
[NCT07334912](https://clinicaltrials.gov/study/NCT07334912) | AEF0217 in Participants With Down Syndrome | PHASE2 | Aelis Farma | RECRUITING |
[NCT05231798](https://clinicaltrials.gov/study/NCT05231798) | Cholinergic Integrity in Down Syndrome in Association With Aging, Alzheimer's Disease Pathology, and Cognition | PHASE2 | Vanderbilt University Medical Center | RECRUITING |
[NCT02864108](https://clinicaltrials.gov/study/NCT02864108) | The Human Trisome Project | — | University of Colorado, Denver | RECRUITING |
[NCT03396562](https://clinicaltrials.gov/study/NCT03396562) | The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy | — | University of Colorado, Denver | RECRUITING |
420 publications have been identified in PubMed for trisomy. Research spans Case Report / Case Series (28%), Basic Science / Preclinical (20%), and Epidemiology / Natural History (17%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 116 | 28% |
Laboratory research | 83 | 20% |
Disease patterns and progression | 71 | 17% |
Research summaries | 63 | 15% |
Testing and diagnosis research | 54 | 13% |
Clinical study results | 21 | 5% |
Other research | 9 | 2% |
New treatment approaches | 3 | 1% |
Matsudera S (2026). [PMID: 41528386](https://pubmed.ncbi.nlm.nih.gov/41528386/). *Pediatr Surg Int*. [Epidemiology / Natural History]
Wang WJ (2026). [PMID: 40814768](https://pubmed.ncbi.nlm.nih.gov/40814768/). *Cytometry B Clin Cytom*. [Basic Science / Preclinical]
Uygur Külcü N (2026). [PMID: 41749627](https://pubmed.ncbi.nlm.nih.gov/41749627/). *Children (Basel, Switzerland)*. [Review / Meta-Analysis]
Zhao W (2026). [PMID: 42271033](https://pubmed.ncbi.nlm.nih.gov/42271033/). *Arch Gynecol Obstet*. [Basic Science / Preclinical]
Azher Z (2026). [PMID: 42260830](https://pubmed.ncbi.nlm.nih.gov/42260830/). *Medicine (Baltimore)*. [Case Report / Case Series]
Hudac CM (2026). [PMID: 42156006](https://pubmed.ncbi.nlm.nih.gov/42156006/). *Pediatrics*. [Case Report / Case Series]
Tosun D (2026). [PMID: 41072718](https://pubmed.ncbi.nlm.nih.gov/41072718/). *J Pediatr Adolesc Gynecol*. [Case Report / Case Series]
Campbell TM (2026). [PMID: 41802107](https://pubmed.ncbi.nlm.nih.gov/41802107/). *Cytogenet Genome Res*. [Case Report / Case Series]
Cerulli Irelli E (2026). [PMID: 41992447](https://pubmed.ncbi.nlm.nih.gov/41992447/). *Epilepsia Open*. [Epidemiology / Natural History]
Williams GM (2026). [PMID: 30855930](https://pubmed.ncbi.nlm.nih.gov/30855930/). *Unknown Journal*. [Review / Meta-Analysis]