Disease · MONDO_0009723

Leigh syndrome

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. Leigh syndrome. Diseases, record MONDO_0009723. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0009723

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: Leigh syndrome; Open Targets
Open Targets ID: MONDO_0009723; Open Targets
Other names: LS, LSS, Leigh disease, Leigh syndrome spectrum, Leigh's disease, infantile subacute necrotizing encephalopathy; Open Targets
Disease Ontology: DOID:3652; Disease Ontology
MeSH: D007888; MeSH
NCI Thesaurus: C84814; NCI Thesaurus
Orphanet: ORPHA:506; Orphanet
Highest stage of its drugs: Phase 2, for 7 of its 7 drugs, from ClinicalTrials.gov and TTD; Open Targets

Drugs7

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
SIROLIMUS	CHEMBL413	Small molecule	Phase 2	ClinicalTrials.gov	2	2	2	Drugs and targets
VATIQUINONE	CHEMBL1812161	Small molecule	Phase 2	ClinicalTrials.gov	2	2	2	Drugs and targets
CYSTEAMINE	CHEMBL602	Small molecule	Phase 2	ClinicalTrials.gov	1	1	0	Drugs and targets
CYSTEAMINE BITARTRATE	CHEMBL1200577	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
MANNITOL	CHEMBL689	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
SONLICROMANOL	CHEMBL4802153	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
UBIDECARENONE	CHEMBL454801	Small molecule	Phase 2	TTD	1	0	0	Drugs and targets

Targets2

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
FKBP1A	Peptidyl-prolyl cis-trans isomerase FKBP1A	1	FK506-binding protein 1A inhibitor	Phase 2	https://conductscience.org/library/genes/2280	Drugs and targets
NQO1	NAD(P)H dehydrogenase [quinone] 1	1	Quinone reductase 1 modulator	Phase 2	https://conductscience.org/library/genes/1728	Drugs and targets

Trials7

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
NCT02473445	A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease	Phase 2	22	2018-05-11	Mitochondrial Diseases	CYSTEAMINE BITARTRATE	Open Targets' reading of its record	ClinicalTrials.gov
NCT01721733	Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome	Phase 2	35		Leigh Syndrome	VATIQUINONE	Its record names the disease	ClinicalTrials.gov
NCT02352896	Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome	Phase 2	30		Leigh Syndrome	VATIQUINONE	Its record names the disease	ClinicalTrials.gov
NCT02909400	The KHENERGY Study	Phase 2	20		Mitochondrial Diseases, Mitochondrial Myopathies, Mitochondrial Encephalomyopathies, MELAS, MIDD	SONLICROMANOL	Its record names the disease	ClinicalTrials.gov
NCT06990984	A Dose-ranging Study of TTI-0102 in Adults and Children With Leigh Syndrome Spectrum (LSS)	Phase 2	18		Leigh Syndrome	MANNITOL	Its record names the disease	ClinicalTrials.gov
NCT06843811	Sirolimus for Leigh Syndrome	Phase 2	15		Leigh Syndrome	SIROLIMUS	Its record names the disease	ClinicalTrials.gov
NCT03747328	ABI-009 (Nab-sirolimus) in Patients With Genetically-confirmed Leigh or Leigh-like Syndrome	Phase 2	0		Leigh Syndrome	SIROLIMUS	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 trials1

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
30058726	DERIVED	1

Source 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_0009723

GET https://conductscience.org/api/diseases/v1/MONDO_0009723/drugs

API reference For AI assistants