Disease · MONDO_0009265

Gaucher disease type I

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. Gaucher disease type I. Diseases, record MONDO_0009265. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0009265

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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: Gaucher disease type I; Open Targets
Open Targets ID: MONDO_0009265; Open Targets
Other names: Gaucher disease type 1, Gaucher disease, noncerebral juvenile, Gaucher's disease type I, non-cerebral juvenile Gaucher disease; Open Targets
Disease Ontology: DOID:0110957; Disease Ontology
Orphanet: ORPHA:77259; Orphanet
Highest stage of its drugs: Approval, for 1 of its 8 drugs, from TTD; 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
MIGLUSTAT	CHEMBL1029	Small molecule	Approval	TTD	2	1	1	Drugs and targets
IMIGLUCERASE	CHEMBL1201632	Enzyme	Phase 3	ClinicalTrials.gov	4	4	4	Drugs and targets
ELIGLUSTAT	CHEMBL2110588	Small molecule	Phase 3	ClinicalTrials.gov	3	3	3	Drugs and targets
ELIGLUSTAT TARTRATE	CHEMBL5723563	Small molecule	Phase 3	ClinicalTrials.gov	2	2	2	Drugs and targets
VELAGLUCERASE ALFA	CHEMBL1201865	Enzyme	Phase 3	ClinicalTrials.gov	1	1	1	Drugs and targets
ACETYLCYSTEINE	CHEMBL600	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
AMBROXOL	CHEMBL153479	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
VENGLUSTAT	CHEMBL4297611	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets

Targets1

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
UGCG	Ceramide glucosyltransferase	4	Ceramide glucosyltransferase inhibitor	Approval	https://conductscience.org/library/genes/7357

Source Drugs and targets

Trials12

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
NCT01074944	A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease to Evaluate Once Daily Versus Twice Daily Dosing (EDGE)	Phase 3	170	2016-12-02	Gaucher Disease	ELIGLUSTAT TARTRATE	Its record names the disease	ClinicalTrials.gov
NCT00319046	Clinical Study to Evaluate the Long Term Efficacy, Safety and Tolerability of Miglustat in Patients With Stable Type 1 Gaucher Disease	Phase 3	42	2012-05-23	Gaucher Disease Type 1	MIGLUSTAT	Its record names the disease	ClinicalTrials.gov
NCT00891202	A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE)	Phase 3	40	2014-09-03	Gaucher Disease, Type 1	ELIGLUSTAT TARTRATE	Its record names the disease	ClinicalTrials.gov
NCT02536755	Phase 3b Study to Evaluate Skeletal Response to Eliglustat in Adult Patients Who Completed Phase 2 or Phase 3 Studies	Phase 3	31	2022-07-15	Gaucher Disease	ELIGLUSTAT	Its record names the disease	ClinicalTrials.gov
NCT01842841	Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease	Phase 3	5	2015-12-14	Gaucher Disease	VELAGLUCERASE ALFA	Open Targets' reading of its record	ClinicalTrials.gov
NCT01136304	Validating a New Severity Score System for Adults With Type 1 Gaucher Disease (GD1)		173		Gaucher Disease	IMIGLUCERASE	Its record names the disease	ClinicalTrials.gov
NCT03485677	Safety and Efficacy of Eliglustat With or Without Imiglucerase in Pediatric Patients With Gaucher Disease (GD) Type 1 and Type 3	Phase 3	57		Gaucher's Disease Type I, Gaucher's Disease Type III	ELIGLUSTAT, IMIGLUCERASE	Its record names the disease	ClinicalTrials.gov
NCT03950050	Ambroxol Therapy for Patients With Type 1 Gaucher Disease and Suboptimal Response to Enzyme Replacement Therapy	Phase 2	40		Gaucher Disease, Type 1	AMBROXOL	Its record names the disease	ClinicalTrials.gov
NCT02583672	Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1)	Phase 2	33		Gaucher Disease Type 1	ACETYLCYSTEINE	Its record names the disease	ClinicalTrials.gov
NCT02843035	Venglustat in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 With Venglustat Monotherapy Extension	Phase 2	12		Gaucher Disease Type 1, Gaucher Disease Type 3	IMIGLUCERASE, VENGLUSTAT	Its record names the disease	ClinicalTrials.gov

1 to 10 of 12

See all 12 trials

Comparisons in its trials1

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
Eliglustat vs Placebo: serious adverse events	2 of 20	3 of 20	40	NCT00891202

Source 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
27866808	RESULT	1	PubMed
25994334	RESULT	1	PubMed
25688781	RESULT	1	PubMed
23860343	RESULT	1	PubMed
23270487	RESULT	1	PubMed
39774103	DERIVED	1	PubMed
38802634	DERIVED	1	PubMed
36739645	DERIVED	1	PubMed
34161616	DERIVED	1	PubMed
29358012	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.

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_0009265

GET https://conductscience.org/api/diseases/v1/MONDO_0009265/drugs

API reference For AI assistants