Disease · MONDO_0011724

encephalopathy due to GLUT1 deficiency

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. encephalopathy due to GLUT1 deficiency. Diseases, record MONDO_0011724. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0011724

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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: encephalopathy due to GLUT1 deficiency; Open Targets
Open Targets ID: MONDO_0011724; Open Targets
Other names: De Vivo disease, GLUT1 deficiency syndrome 1, infantile onset, severe, GLUT1 deficiency syndrome type 1, GLUT1-DS, Glucose Transporter Type 1 Deficiency Syndrome, glucose transporter type 1 deficiency, glut-1 deficiency syndrome; Open Targets
Disease Ontology: DOID:0070561; Disease Ontology
MeSH: C536830; MeSH
Orphanet: ORPHA:71277; Orphanet
Highest stage of its drugs: Phase 3, for its one drug, from ClinicalTrials.gov; Open Targets

Drugs1

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
TRIHEPTANOIN	CHEMBL4297585	Small molecule	Phase 3	ClinicalTrials.gov	8	8	8

Source Drugs and targets

Targets0

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.

None in this release.

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.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT03181399	Diet Treatment Glucose Transporter Type 1 Deficiency (G1D)	Phase 2	45	2025-04-13	GLUT1DS1, Epilepsy, Glut1 Deficiency Syndrome 1, Autosomal Recessive, Glucose Metabolism Disorders, Glucose Transport Defect, Glucose Transporter Type 1 Deficiency Syndrome, Glucose Transporter Protein Type 1 Deficiency Syndrome	TRIHEPTANOIN	Its record names the disease	ClinicalTrials.gov
NCT02960217	Crossover Study to Assess the Efficacy and Safety of UX007 in the Treatment of Movement Disorders Associated With Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)	Phase 3	44	2020-04-24	Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)	TRIHEPTANOIN	Its record names the disease	ClinicalTrials.gov
NCT02036853	An Open-Label Trial of Triheptanoin in Patients With Glucose Transporter Type-1 Deficiency Syndrome	Phase 2	20	2021-01-28	Glucose Transporter Type-1 Deficiency Syndrome (Glut1 DS)	TRIHEPTANOIN	Its record names the disease	ClinicalTrials.gov
NCT02599961	Study to Assess the Long Term Safety and Efficacy of UX007 in Participants With Glucose Type 1 Deficiency Syndrome (Glut1 DS)	Phase 2	15	2020-04-30	Glucose Transporter Type 1 Deficiency Syndrome	TRIHEPTANOIN	Its record names the disease	ClinicalTrials.gov
NCT03301532	Compatibility of C7 With Ketogenic Diet in Patients Diagnosed With G1D	Phase 2	10	2024-01-17	GLUT1DS1	TRIHEPTANOIN	Its record names the disease	ClinicalTrials.gov
NCT02014883	Phase II Open Label Study Using Triheptanoin in Patients With Glucose Type 1 Transporter Deficiency GLUT1-DS	Phase 2	20		Glut1 Deficiency Syndrome	TRIHEPTANOIN	Its record names the disease	ClinicalTrials.gov
NCT02000960	Pilot Study of Triheptanoin in Patients With Glucose Transporter 1 Deficiency Syndrome	Phase 2	3		Glucose Transporter Type 1 Deficiency Syndrome	TRIHEPTANOIN	Its record names the disease	ClinicalTrials.gov
NCT02018302	Post Study Continuation of C7 for G1D				Glut1 Deficiency Syndrome, Glucose Transporter Type 1 Deficiency Syndrome	TRIHEPTANOIN	Its record names the disease	ClinicalTrials.gov

Comparisons in its trials2

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
Schedule A vs Schedule B: deaths from any cause	0 of 6	0 of 14	20	NCT02036853	Trial comparisons
Schedule A vs Schedule B: serious adverse events	0 of 6	1 of 14	20	NCT02036853	Trial comparisons

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
37268656	RESULT	1	PubMed
31694879	RESULT	1	PubMed
30948626	RESULT	1	PubMed
26536893	RESULT	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_0011724

GET https://conductscience.org/api/diseases/v1/MONDO_0011724/drugs

API reference For AI assistants