Disease · MONDO_0018150

Gaucher disease

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. Gaucher disease. Diseases, record MONDO_0018150. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0018150

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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; Open Targets
Open Targets ID: MONDO_0018150; Open Targets
Other names: GD, Gaucher syndrome, acid beta-glucosidase deficiency, glucocerebrosidase deficiency, glucocerebrosidosis, glucosylceramidase deficiency, glucosylceramide beta-glucosidase deficiency, lipoid histiocytosis (kerasin type); Open Targets
Disease Ontology: DOID:1926; Disease Ontology
MeSH: D005776; MeSH
NCI Thesaurus: C61268; NCI Thesaurus
Orphanet: ORPHA:355; Orphanet
Highest stage of its drugs: Approval, for 7 of its 15 drugs, from ClinicalTrials.gov, DailyMed, EMA Human Drugs, PMDA and TTD; Open Targets

Drugs15

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
TALIGLUCERASE ALFA	CHEMBL1964120	Enzyme	Approval	DailyMed	16	14	8	Drugs and targets
VELAGLUCERASE ALFA	CHEMBL1201865	Enzyme	Approval	ClinicalTrials.gov, DailyMed, EMA Human Drugs and PMDA	14	11	11	Drugs and targets
IMIGLUCERASE	CHEMBL1201632	Enzyme	Approval	DailyMed, EMA Human Drugs and TTD	8	5	5	Drugs and targets
MIGLUSTAT	CHEMBL1029	Small molecule	Approval	DailyMed and EMA Human Drugs	7	2	2	Drugs and targets
ELIGLUSTAT TARTRATE	CHEMBL5723563	Small molecule	Approval	DailyMed and PMDA	4	2	2	Drugs and targets
ELIGLUSTAT	CHEMBL2110588	Small molecule	Approval	EMA Human Drugs	1	0	0	Drugs and targets
OLIPUDASE ALFA	CHEMBL3707358	Enzyme	Approval	TTD	1	0	0	Drugs and targets
VITAMIN E	CHEMBL3989727		Phase 3	ClinicalTrials.gov	1	1	1	Drugs and targets
AFEGOSTAT TARTRATE	CHEMBL2105671	Small molecule	Phase 2	ClinicalTrials.gov	4	4	4	Drugs and targets
ARIMOCLOMOL	CHEMBL2107726	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets

1 to 10 of 15

See all 15 drugs

Targets3

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
UGCG	Ceramide glucosyltransferase	4	Ceramide glucosyltransferase inhibitor	Approval	https://conductscience.org/library/genes/7357	Drugs and targets
GBA1	Lysosomal acid glucosylceramidase	2	Beta-glucocerebrosidase stabiliser	Phase 2	https://conductscience.org/library/genes/2629	Drugs and targets
VDR	Vitamin D3 receptor	1	Vitamin D receptor agonist	Phase 2	https://conductscience.org/library/genes/7421	Drugs and targets

Trials34

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

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT00943111	A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE)	Phase 3	160	2014-09-04	Gaucher Disease, Type 1	ELIGLUSTAT TARTRATE, IMIGLUCERASE	Its record names the disease	ClinicalTrials.gov
NCT00364858	Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease	Phase 4	95	2009-09-02	Gaucher Disease, Type 1, Cerebroside Lipidosis Syndrome, Glucocerebrosidase Deficiency Disease, Glucosylceramide Beta-Glucosidase Deficiency Disease, Gaucher Disease, Non-Neuronopathic Form	IMIGLUCERASE	Its record names the disease	ClinicalTrials.gov
NCT00635427	An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease	Phase 3	95	2014-01-28	Gaucher Disease, Type 1	VELAGLUCERASE ALFA	Its record names the disease	ClinicalTrials.gov
NCT00705939	Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial	Phase 3	45	2014-07-15	Gaucher Disease	TALIGLUCERASE ALFA	Its record names the disease	ClinicalTrials.gov
NCT00478647	Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase	Phase 2/3	40	2010-09-02	Gaucher Disease	VELAGLUCERASE ALFA	Its record names the disease	ClinicalTrials.gov
NCT00553631	Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease	Phase 3	34	2011-01-04	Gaucher Disease, Type 1	IMIGLUCERASE, VELAGLUCERASE ALFA	Its record names the disease	ClinicalTrials.gov
NCT00376168	A Phase III Trial to Assess the Safety and Efficacy of Plant Cell Expressed GCD in Patients With Gaucher Disease	Phase 3	32	2012-07-26	Gaucher Disease	TALIGLUCERASE ALFA	Its record names the disease	ClinicalTrials.gov
NCT00712348	Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase	Phase 3	31	2014-06-05	Gaucher Disease	TALIGLUCERASE ALFA	Its record names the disease	ClinicalTrials.gov
NCT00433147	A Study of AT2101 (Afegostat Tartrate) in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement Therapy	Phase 2	30	2018-08-15	Gaucher Disease, Type 1, Type 1 Gaucher Disease, Gaucher Disease	AFEGOSTAT TARTRATE	Its record names the disease	ClinicalTrials.gov
NCT00358150	A Study of the Efficacy and Safety of Eliglustat Tartrate (Genz-112638) in Type 1 Gaucher Patients	Phase 2	26	2014-09-03	Gaucher Disease, Type 1, Cerebroside Lipidosis Syndrome, Glucocerebrosidase Deficiency Disease, Glucosylceramide Beta-Glucosidase Deficiency Disease, Gaucher Disease, Non-Neuronopathic Form	ELIGLUSTAT TARTRATE	Its record names the disease	ClinicalTrials.gov

1 to 10 of 34

See all 34 trials

Comparisons in its trials8

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
Eliglustat vs Imiglucerase: serious adverse events	18 of 106	7 of 53	159	NCT00943111	Trial comparisons
Gene-Activated Human Glucocerebrosidase (GA-GCB) vs Imiglucerase: Number of Participants Who Developed Antibody for Each Treatment Group.	0 of 17	4 of 17	34	NCT00553631	Trial comparisons
Gene-Activated Human Glucocerebrosidase (GA-GCB) vs Imiglucerase: serious adverse events	3 of 17	0 of 17	34	NCT00553631	Trial comparisons
ELELYSO 30 Units/kg vs ELELYSO 60 Units/kg: serious adverse events	0 of 16	0 of 16	32	NCT00376168	Trial comparisons
VPRIV® (45 U/kg, IV, Every Other Week) vs VPRIV® (60 U/kg, IV, Every Other Week): serious adverse events	0 of 13	1 of 12	25	NCT00430625	Trial comparisons
Afegostat Tartrate Treatment Regimen 1 vs Afegostat Tartrate Treatment Regimen 2: Number Of Participants Who Experienced Severe Treatment-emergent Adverse Events (TEAEs)	2 of 11	0 of 8	19	NCT00446550	Trial comparisons
Afegostat Tartrate Treatment Regimen 1 vs Afegostat Tartrate Treatment Regimen 2: serious adverse events	0 of 11	0 of 8	19	NCT00446550	Trial comparisons
30 Units/kg vs 60 Units/kg: serious adverse events	0 of 6	1 of 5	11	NCT01132690	Trial comparisons

Papers from its trials27

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
30066229	RESULT	1	PubMed
24924293	RESULT	1	PubMed
24835462	RESULT	1	PubMed
24816856	RESULT	1	PubMed
23339116	RESULT	1	PubMed
23199589	RESULT	1	PubMed
20713962	RESULT	1	PubMed
20439622	RESULT	1	PubMed
39183538	DERIVED	1	PubMed
36739645	DERIVED	1	PubMed

1 to 10 of 27

See all 27 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_0018150

GET https://conductscience.org/api/diseases/v1/MONDO_0018150/trials?page=2

API reference For AI assistants