Disease · MONDO_0008608

Down syndrome

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. Down syndrome. Diseases, record MONDO_0008608. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0008608

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Disease

Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.

Name: Down syndrome; Open Targets
Open Targets ID: MONDO_0008608; Open Targets
Other names: Complete trisomy 21 syndrome, Complete trisomy 21 syndrome (disorder), Down Syndrome, Partial Trisomy 21, Down syndrome, Isolated cases, Down's syndrome, Down's syndrome - trisomy 21, Down's syndrome NOS, Down's syndrome NOS (disorder), Downs Syndrome, G Trisomy, Mongolism, Partial Trisomy 21 Down Syndrome, Syndrome, Down, Syndrome, Down's, T21 - Trisomy 21, Trisomy 21, Trisomy 21 (Down Syndrome)Downs SyndromeTrisomy 21 Syndrome, Trisomy 21 NOS, Trisomy 21, Meiotic Nondisjunction, Trisomy 21, Mitotic Nondisjunction, leukemia, megakaryoblastic, with or without Down syndrome, somatic, trisomy 21 (Down syndrome), trisomy 21 syndrome; Open Targets
Disease Ontology: DOID:14250; Disease Ontology
MeSH: D004314; MeSH
NCI Thesaurus: C2993; NCI Thesaurus
Orphanet: ORPHA:870; Orphanet
Highest stage of its drugs: Phase 3, for 6 of its 20 drugs, from ClinicalTrials.gov; Open Targets

Drugs20

The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.

Drug	ChEMBL ID	Type	Open Targets' stage	Stage reported by	Reports	Of them trials	Trials shown here	Source
FOLINIC ACID	CHEMBL1232801	Small molecule	Phase 3	ClinicalTrials.gov	2	2	2	Drugs and targets
CYTARABINE	CHEMBL803	Small molecule	Phase 3	ClinicalTrials.gov	1	1	1	Drugs and targets
DAUNORUBICIN	CHEMBL178	Small molecule	Phase 3	ClinicalTrials.gov	1	1	1	Drugs and targets
ETOPOSIDE	CHEMBL44657	Small molecule	Phase 3	ClinicalTrials.gov	1	1	1	Drugs and targets
IDARUBICIN	CHEMBL1117	Small molecule	Phase 3	ClinicalTrials.gov	1	1	1	Drugs and targets
LEVOTHYROXINE	CHEMBL1624	Small molecule	Phase 3	ClinicalTrials.gov	1	1	1	Drugs and targets
GONADORELIN ACETATE	CHEMBL1200511	Protein	Phase 2/3	ClinicalTrials.gov	1	1	1	Drugs and targets
LEUCOVORIN	CHEMBL1679	Small molecule	Phase 2/3	ClinicalTrials.gov	1	1	1	Drugs and targets
BASMISANIL	CHEMBL3681419	Small molecule	Phase 2	ClinicalTrials.gov	3	3	3	Drugs and targets
BUMETANIDE	CHEMBL1072	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets

1 to 10 of 20

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Targets34

The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.

Target	Protein	Its drugs that act on it	Mechanisms	Highest stage of those drugs	Gene in Genes	Source
TOP2A	DNA topoisomerase 2-alpha	3	DNA topoisomerase II alpha inhibitor; DNA topoisomerase II inhibitor	Phase 3	https://conductscience.org/library/genes/7153	Drugs and targets
ACHE	Acetylcholinesterase	2	Acetylcholinesterase inhibitor; Cholinesterases; ACHE & BCHE inhibitor	Phase 2	https://conductscience.org/library/genes/43	Drugs and targets
GRIN1	Glutamate [NMDA] receptor	2	Glutamate [NMDA] receptor negative allosteric modulator	Phase 2	https://conductscience.org/library/genes/2902	Drugs and targets
GRIN2A	Glutamate [NMDA] receptor	2	Glutamate [NMDA] receptor negative allosteric modulator	Phase 2	https://conductscience.org/library/genes/2903	Drugs and targets
GRIN2B	Glutamate [NMDA] receptor	2	Glutamate [NMDA] receptor negative allosteric modulator	Phase 2	https://conductscience.org/library/genes/2904	Drugs and targets
GRIN2C	Glutamate [NMDA] receptor	2	Glutamate [NMDA] receptor negative allosteric modulator	Phase 2	https://conductscience.org/library/genes/2905	Drugs and targets
GRIN2D	Glutamate [NMDA] receptor	2	Glutamate [NMDA] receptor negative allosteric modulator	Phase 2	https://conductscience.org/library/genes/2906	Drugs and targets
GRIN3A	Glutamate [NMDA] receptor	2	Glutamate [NMDA] receptor negative allosteric modulator	Phase 2	https://conductscience.org/library/genes/116443	Drugs and targets
GRIN3B	Glutamate [NMDA] receptor	2	Glutamate [NMDA] receptor negative allosteric modulator	Phase 2	https://conductscience.org/library/genes/116444	Drugs and targets
BCHE	Cholinesterases; ACHE & BCHE	1	Cholinesterases; ACHE & BCHE inhibitor	Phase 1/2	https://conductscience.org/library/genes/590	Drugs and targets

1 to 10 of 34

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Trials20

Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT01576705	Efficacy Assessment of Systematic Treatment With Folinic Acid and Thyroid Hormone on Psychomotor Development of Down Syndrome Young Children	Phase 3	175	2020-05-13	Down Syndrome	FOLINIC ACID, LEVOTHYROXINE	Its record names the disease	ClinicalTrials.gov
NCT02304302	Down Syndrome Memantine Follow-up Study	Phase 2	160	2022-04-05	Down Syndrome, Intellectual Disability	MEMANTINE HYDROCHLORIDE	Its record names the disease	ClinicalTrials.gov
NCT01084135	Rivastigmine Study in Adolescents With Down Syndrome	Phase 1/2	42	2015-03-12	Down Syndrome	RIVASTIGMINE	Its record names the disease	ClinicalTrials.gov
NCT01791725	A 4-Week Safety Study of Oral ELND005 in Young Adults With Down Syndrome Without Dementia	Phase 2	23	2016-01-29	Down Syndrome	SCYLLITOL	Its record names the disease	ClinicalTrials.gov
NCT02432716	Investigation of the Safety of Intranasal Glulisine in Down Syndrome	Phase 1	12	2019-12-06	Down Syndrome	INSULIN GLULISINE	Its record names the disease	ClinicalTrials.gov
NCT02024789	A Study of RG1662 in Adults and Adolescents With Down Syndrome (CLEMATIS)	Phase 2	173		Down Syndrome	BASMISANIL	Its record names the disease	ClinicalTrials.gov
NCT06206824	Leucettinib-21 First-in-Human Phase 1 in Healthy Volunteers and Subjects With Down Syndrome and Alzheimer's Disease	Phase 1	152		Healthy Volunteers, Down Syndrome, Alzheimer's Disease	5-(6-BENZOTHIAZOLYLMETHYLENE)-3,5-DIHYDRO-2-(((1S)-1-(METHOXYMETHYL)-3-METHYLBUTYL)AMINO)-4H-IMIDAZOL-4-ONE, (5Z)-	Its record names the disease	ClinicalTrials.gov
NCT00294593	Efficacy Study of Folinic Acid to Improve Mental Development of Children With Down Syndrome	Phase 2/3	120		Down Syndrome	LEUCOVORIN	Its record names the disease	ClinicalTrials.gov
NCT07232134	The Efficacy of Therapy in Patients With Acute Myeloid Leukemia and Down Syndrome in Russia	Phase 3	100		AML (Acute Myelogenous Leukemia), Down Syndrome (DS)	CYTARABINE, DAUNORUBICIN, ETOPOSIDE, IDARUBICIN	Its record names the disease	ClinicalTrials.gov
NCT07598643	Modulation of the Immune System in Down Syndrome for Improved Outcomes and Neurodevelopment - 1	Phase 2	92		Down Syndrome	TOFACITINIB	Its record names the disease	ClinicalTrials.gov

1 to 10 of 20

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Comparisons in its trials5

Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.

Comparison	Group 1, with the outcome	Group 2, with the outcome	Participants	Trial	Source
Memantine vs Placebo: deaths from any cause	0 of 81	0 of 79	160	NCT02304302	Trial comparisons
Memantine vs Placebo: serious adverse events	0 of 81	0 of 79	160	NCT02304302	Trial comparisons
Post-Insulin (Glulisine) vs Post-Placebo: deaths from any cause	0 of 12	0 of 12	24	NCT02432716	Trial comparisons
Post-Insulin (Glulisine) vs Post-Placebo: serious adverse events	0 of 12	0 of 12	24	NCT02432716	Trial comparisons
Insulin (Glulisine), Then Placebo vs Placebo, Then Insulin (Glulisine): Safety Measured by Adverse Events	0 of 6	0 of 6	12	NCT02432716	Trial comparisons

Papers from its trials12

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

PMID	Listed as	Trials listing it	Source
36048943	RESULT	1	PubMed
35307513	RESULT	1	PubMed
34942135	RESULT	1	PubMed
33778150	RESULT	1	PubMed
35123401	DERIVED	1	PubMed
34863019	DERIVED	1	PubMed
32077057	DERIVED	1	PubMed
31281181	DERIVED	1	PubMed
28453471	DERIVED	1	PubMed
20084109	DERIVED	1	PubMed

1 to 10 of 12

See all 12 papers from its trials

Data dates

The date of each source this release read.

Open Targets: 2026-09-18; Open Targets
Drug links and their checks, from Drugs and targets: 2026-09-18; Drugs and targets
ClinicalTrials.gov, from Trials: 2026-11-12; Trials
Comparisons, from Trial comparisons: 2026-03-23; Trial comparisons
PubMed, for the checks: 2026-11-06; PubMed
MeSH, for the checks: 2026-11-10; MeSH

Sources 6

ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
NLM's MeSHNLM's terms
Open TargetsCC0 1.0
PubMedNLM's terms

Each source's terms

ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
NLM's MeSHNLM's
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PubMedNLM's terms

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

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Read this disease from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/diseases/v1/MONDO_0008608

GET https://conductscience.org/api/diseases/v1/MONDO_0008608/targets?page=2

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