Disease · MONDO_0008840

ataxia telangiectasia

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. ataxia telangiectasia. Diseases, record MONDO_0008840. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0008840

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: ataxia telangiectasia; Open Targets
Open Targets ID: MONDO_0008840; Open Targets
Other names: Louis-Bar syndrome, ataxia telangiectasia syndrome; Open Targets
Disease Ontology: DOID:12704; Disease Ontology
MeSH: D001260; MeSH
NCI Thesaurus: C2887; NCI Thesaurus
Orphanet: ORPHA:100; Orphanet
Highest stage of its drugs: Approval, for 1 of its 6 drugs, from TTD; Open Targets

Drugs6

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
DEXAMETHASONE SODIUM PHOSPHATE	CHEMBL2021430	Small molecule	Approval	TTD	7	5	5	Drugs and targets
LEVACETYLLEUCINE	CHEMBL56021	Small molecule	Phase 3	ClinicalTrials.gov	3	3	1	Drugs and targets
TRENONACOG ALFA	CHEMBL3039538		Phase 3	ClinicalTrials.gov	2	2	0	Drugs and targets
NIACINAMIDE	CHEMBL1140	Small molecule	Phase 2	ClinicalTrials.gov	1	1	0	Drugs and targets
BACLOFEN	CHEMBL701	Small molecule	Early phase 1	ClinicalTrials.gov	1	1	1	Drugs and targets
NICOTINAMIDE RIBOSIDE	CHEMBL438497	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
F9	Coagulation factor IX	1	Coagulation factor IX exogenous protein	Phase 3	https://conductscience.org/library/genes/2158	Drugs and targets
GABBR1	GABA-B receptor	1	GABA-B receptor agonist	Early phase 1	https://conductscience.org/library/genes/2550	Drugs and targets
GABBR2	GABA-B receptor	1	GABA-B receptor agonist	Early phase 1	https://conductscience.org/library/genes/9568	Drugs and targets
NR3C1	Glucocorticoid receptor	1	Glucocorticoid receptor agonist	Approval	https://conductscience.org/library/genes/2908	Drugs and targets

Trials8

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. 3 more are not shown, since the checks do not confirm them.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT02770807	Intra-Erythrocyte Dexamethasone Sodium Phosphate in Ataxia Telangiectasia Patients	Phase 3	176	2024-05-09	Nervous System Disease, Genetic Syndrome	DEXAMETHASONE SODIUM PHOSPHATE	Its record names the disease	ClinicalTrials.gov
NCT03563053	Extension Treatment Using EryDex System in Patients With AT Who Participated in the ATTeST-IEDAT-02-2015 Study	Phase 3	104	2024-10-08	Ataxia Telangiectasia, Genetic Syndrome	DEXAMETHASONE SODIUM PHOSPHATE	Its record names the disease	ClinicalTrials.gov
NCT01255358	Intra-Erythrocyte Dexamethasone Sodium Phosphate in Ataxia Teleangiectasia Patients	Phase 2	22	2024-10-10	Nervous System Disorder, Genetic Syndrome	DEXAMETHASONE SODIUM PHOSPHATE	Its record names the disease	ClinicalTrials.gov
NCT06193200	Evaluate the Neurological Effects of EryDex on Subjects With A-T	Phase 3	105		Ataxia Telangiectasia	DEXAMETHASONE SODIUM PHOSPHATE	Its record names the disease	ClinicalTrials.gov
NCT06664853	Open-Label Extension of EryDex Study IEDAT-04-2022	Phase 3	101		Ataxia Telangiectasia	DEXAMETHASONE SODIUM PHOSPHATE	Its record names the disease	ClinicalTrials.gov
NCT00640003	Baclofen Treatment of Ataxia Telangiectasia	Early phase 1	10		Ataxia Telangiectasia	BACLOFEN	Its record names the disease	ClinicalTrials.gov
NCT06324877	Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With Nicotinamide Riboside	Not applicable	10		Ataxia Telangiectasia	NICOTINAMIDE RIBOSIDE	Its record names the disease	ClinicalTrials.gov
NCT07380165	Expanded Access Program (EAP) of Levacetylleucine for Ataxia-Telangiectasia (A-T)				Ataxia-Telangiectasia (A-T)	LEVACETYLLEUCINE	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 trials4

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
42600624	DERIVED	1	PubMed
40739200	DERIVED	1	PubMed
39917433	DERIVED	2	PubMed
39152028	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_0008840

GET https://conductscience.org/api/diseases/v1/MONDO_0008840/drugs

API reference For AI assistants