Disease · MONDO_0018866

Aicardi-Goutieres syndrome

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. Aicardi-Goutieres syndrome. Diseases, record MONDO_0018866. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0018866

On this page

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: Aicardi-Goutieres syndrome; Open Targets
Open Targets ID: MONDO_0018866; Open Targets
Other names: Aicardi-Goutières Syndrome, Cree encephalitis, encephalopathy with basal ganglia calcification, encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Open Targets
Disease Ontology: DOID:0050629; Disease Ontology
MeSH: C535607; MeSH
Orphanet: ORPHA:51; Orphanet
Highest stage of its drugs: Phase 2/3, for 1 of its 8 drugs, from ClinicalTrials.gov; Open Targets

Drugs8

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
BARICITINIB	CHEMBL2105759	Small molecule	Phase 2/3	ClinicalTrials.gov	3	3	3	Drugs and targets
ABACAVIR	CHEMBL1380	Small molecule	Phase 2	ClinicalTrials.gov	2	2	2	Drugs and targets
LAMIVUDINE	CHEMBL141	Small molecule	Phase 2	ClinicalTrials.gov	2	2	2	Drugs and targets
ZIDOVUDINE	CHEMBL129	Small molecule	Phase 2	ClinicalTrials.gov	2	2	2	Drugs and targets
EMTRICITABINE	CHEMBL885	Small molecule	Phase 1/2	ClinicalTrials.gov	1	1	1	Drugs and targets
EMTRICITABINE, (+/-)-	CHEMBL161381	Small molecule	Phase 1/2	ClinicalTrials.gov	1	1	1	Drugs and targets
TENOFOVIR	CHEMBL3989702	Small molecule	Phase 1/2	ClinicalTrials.gov	1	1	1	Drugs and targets
RUXOLITINIB	CHEMBL1789941	Small molecule	Unknown	ClinicalTrials.gov	1	1	1	Drugs and targets

Targets4

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
JAK1	Tyrosine-protein kinase JAK1	2	Tyrosine-protein kinase JAK1 inhibitor	Phase 2/3	https://conductscience.org/library/genes/3716	Drugs and targets
JAK2	Tyrosine-protein kinase JAK2	2	Tyrosine-protein kinase JAK2 inhibitor	Phase 2/3	https://conductscience.org/library/genes/3717	Drugs and targets
JAK3	Tyrosine-protein kinase JAK3	1	Tyrosine-protein kinase JAK3 inhibitor	Unknown	https://conductscience.org/library/genes/3718	Drugs and targets
TYK2	Non-receptor tyrosine-protein kinase TYK2	1	Tyrosine-protein kinase TYK2 inhibitor	Unknown	https://conductscience.org/library/genes/7297	Drugs and targets

Trials6

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
NCT03921554	JAK Inhibitor Treatment in AGS	Phase 2	54	2025-02-12	Aicardi Goutieres Syndrome	BARICITINIB	Its record names the disease	ClinicalTrials.gov
NCT04517253	A Study of Baricitinib (LY3009104) in Adult and Pediatric Japanese Participants With NNS/CANDLE, SAVI, and AGS	Phase 2/3	10	2022-12-21	Nakajo-Nishimura Syndrome, Chronic Atypical Neutrophilic Dermatosis With Lipodystrophy and Elevated Temperature Syndrome, STING-Associated Vasculopathy With Onset in Infancy, Aicardi Goutieres Syndrome	BARICITINIB	Its record names the disease	ClinicalTrials.gov
NCT06898372	Evaluate the Efficacy of Anti-Jak1 Inhibitors as Treatment for Patients With Aicardi-Goutières Syndrome		24		Aicardi-Goutières Syndrome (AGS)	BARICITINIB, RUXOLITINIB	Its record names the disease	ClinicalTrials.gov
NCT04731103	Inhibition of Reverse Transcription in Aicardi-Goutières Syndrome	Phase 2	13		Aicardi-Goutières Syndrome	ABACAVIR, LAMIVUDINE, ZIDOVUDINE	Its record names the disease	ClinicalTrials.gov
NCT02363452	Reverse Transcriptase Inhibitors in AGS	Phase 2	11		Aicardi-Goutières Syndrome (AGS)	ABACAVIR, LAMIVUDINE, ZIDOVUDINE	Its record names the disease	ClinicalTrials.gov
NCT03304717	Reverse Transcriptase Inhibitors in Aicardi Goutières Syndrome	Phase 1/2	0		Aicardi Goutières Syndrome	EMTRICITABINE, EMTRICITABINE, (+/-)-, TENOFOVIR	Its record names the disease	ClinicalTrials.gov

Comparisons in its trials0

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.

None in this release.

Papers from its trials3

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
30566312	RESULT	1	PubMed
37087470	DERIVED	1	PubMed
35786528	DERIVED	1	PubMed

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.

For software

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_0018866

GET https://conductscience.org/api/diseases/v1/MONDO_0018866/drugs

API reference For AI assistants