Trisomy 21

Summary

Trisomy 21 (MONDO:0700126) is a disease and 30 clinical trials. A subtype of Down syndrome — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Clinical trials: 30

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	trisomy 21
Mondo ID	MONDO:0700126
UMLS	C3537167
MedGen	760825
Is cancer (heuristic)	no

Data availability: 11 cell lines.

Disease family

This is a subtype of Down syndrome. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › autosomal anomaly › chromosome 21 disorder › Down syndrome › trisomy 21

Related subtypes (2): translocation Down syndrome, partial segmental duplication

Subtypes (2): complete trisomy 21, mosaic trisomy 21

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 30.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	29
PHASE4	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04747275	PHASE4	TERMINATED	Use of Liquid Stable Levothyroxine in Trisomy 21 Pediatric Patients
NCT02864108	Not specified	RECRUITING	The Human Trisome Project
NCT05527652	Not specified	RECRUITING	Self-Supporting Nasopharyngeal Airway (ssNPA) Treating Upper Airway Obstruction in Hypotonia
NCT05970965	Not specified	RECRUITING	Periodontitis and Inflammation in Children With Down Syndrome/Trisomy 21: Study on Biological Samples
NCT06200519	Not specified	ACTIVE_NOT_RECRUITING	Assessment of Diastolic Function During the Transitional Period and Infancy Using Serial Echocardiography
NCT06888570	Not specified	ENROLLING_BY_INVITATION	Relationship Between Eating Patterns, Body Composition and the Detection of Fatty Liver in Children and Adolescents With Trisomy 21: LiverTy Project
NCT00877292	Not specified	COMPLETED	A New Prenatal Blood Test for Down Syndrome
NCT01256606	Not specified	COMPLETED	Prenatal Test for Fetal Aneuploidy Detection
NCT01511458	Not specified	COMPLETED	Non-invasive Chromosomal Examination of Trisomy Study
NCT01545674	Not specified	TERMINATED	Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial
NCT01725438	Not specified	COMPLETED	Non Invasive Prenatal Diagnosis of Trisomy 21 by Genetic Analysis of Circulating Fetal Cells
NCT01821300	Not specified	COMPLETED	Down Syndrome Metabolic Health Study
NCT01837979	Not specified	UNKNOWN	Down Syndrome Screening Based on Dried Blood Spots and Cell-free Fetal DNA
NCT01852708	Not specified	COMPLETED	Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood
NCT01925742	Not specified	COMPLETED	Study of the Efficacy of New Non-invasive Prenatal Tests for Screening for Fetal Trisomies Using Maternal Blood
NCT01931644	Not specified	COMPLETED	At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions
NCT01966991	Not specified	COMPLETED	Prenatal Screening for Down Syndrome With DNAFirst
NCT02109770	Not specified	COMPLETED	Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA
NCT02201862	Not specified	COMPLETED	Non-Invasive Chromosomal Evaluation of Trisomy Study
NCT02278536	Not specified	COMPLETED	Multiple Gestation Study
NCT02278874	Not specified	COMPLETED	High Risk Multiple Gestation Study
NCT02381457	Not specified	COMPLETED	SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
NCT02872948	Not specified	COMPLETED	Diagnosis Accuracy of Noninvasive Screening by PCR Digital for Down Syndrom
NCT03551418	Not specified	TERMINATED	Learning by Repetitive Viewing of Peer Modeling Patient Education Videos by Adults With Down Syndrome
NCT03559374	Not specified	UNKNOWN	Study of Vanadis® NIPT for Non-invasive Prenatal Screening of Trisomies (T21, T18 and T13)
NCT03687866	Not specified	TERMINATED	Non-invasive Screening of Fetal Trisomy 21 by Digital PCR
NCT04737070	Not specified	UNKNOWN	Study of High Risk Non Invasive Prenatal Test Population
NCT05004337	Not specified	COMPLETED	Verification of Risk Assignment for Whole Chromosome Using SNP-based NIPT in Vanishing Twin Pregnancies
NCT05307523	Not specified	COMPLETED	Use of Partial Body Weight Support Play Environment to Encourage Mobility and Exploration in Infants With Down Syndrome
NCT05981521	Not specified	COMPLETED	Paternal Age and Fetal Aneuploidy