Disease · MONDO_0018149

GM1 gangliosidosis

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. GM1 gangliosidosis. Diseases, record MONDO_0018149. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0018149

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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: GM1 gangliosidosis; Open Targets
Open Targets ID: MONDO_0018149; Open Targets
Other names: Beta-galactosidase-1 deficiency, GLB1 deficiency, GM>1< gangliosidosis, Landing disease, Landing syndrome, gangliosidosis GM1; Open Targets
Disease Ontology: DOID:3322; Disease Ontology
MeSH: D016537; MeSH
NCI Thesaurus: C84739; NCI Thesaurus
Orphanet: ORPHA:354; Orphanet
Highest stage of its drugs: Phase 3, for 2 of its 15 drugs, from ClinicalTrials.gov; 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
NIZUBAGLUSTAT	CHEMBL3354637	Small molecule	Phase 3	ClinicalTrials.gov	2	2	2	Drugs and targets
VENGLUSTAT	CHEMBL4297611	Small molecule	Phase 3	ClinicalTrials.gov	1	1	1	Drugs and targets
ALEMTUZUMAB	CHEMBL1201587	Antibody	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
CLOFARABINE	CHEMBL1750	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
HYDROXYUREA	CHEMBL467	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
MELPHALAN	CHEMBL852	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
MYCOPHENOLATE MOFETIL	CHEMBL1456	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
BOMTABEGAGENE BAVOPARVOVEC	CHEMBL4802255	Gene	Phase 1/2	ClinicalTrials.gov and TTD	3	1	1	Drugs and targets
METHYLPREDNISOLONE	CHEMBL650	Small molecule	Phase 1/2	ClinicalTrials.gov	1	1	1	Drugs and targets
PREDNISONE	CHEMBL635	Small molecule	Phase 1/2	ClinicalTrials.gov	1	1	1	Drugs and targets

1 to 10 of 15

See all 15 drugs

Targets21

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
NR3C1	Glucocorticoid receptor	2	Glucocorticoid receptor agonist	Phase 1/2	https://conductscience.org/library/genes/2908	Drugs and targets
RRM1	Ribonucleoside-diphosphate reductase RR1	2	Ribonucleoside-diphosphate reductase RR1 inhibitor	Phase 2	https://conductscience.org/library/genes/6240	Drugs and targets
RRM2	Ribonucleoside-diphosphate reductase RR1	2	Ribonucleoside-diphosphate reductase RR1 inhibitor	Phase 2	https://conductscience.org/library/genes/6241	Drugs and targets
RRM2B	Ribonucleoside-diphosphate reductase RR1	2	Ribonucleoside-diphosphate reductase RR1 inhibitor	Phase 2	https://conductscience.org/library/genes/50484	Drugs and targets
CD52	CAMPATH-1 antigen	1	CAMPATH-1 antigen inhibitor	Phase 2	https://conductscience.org/library/genes/1043	Drugs and targets
FKBP1A	Peptidyl-prolyl cis-trans isomerase FKBP1A	1	FK506-binding protein 1A inhibitor	Phase 1/2	https://conductscience.org/library/genes/2280	Drugs and targets
IMPDH1	Inosine-5'-monophosphate dehydrogenase (IMPDH)	1	Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor	Phase 2	https://conductscience.org/library/genes/3614	Drugs and targets
IMPDH2	Inosine-5'-monophosphate dehydrogenase (IMPDH)	1	Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor	Phase 2	https://conductscience.org/library/genes/3615	Drugs and targets
MS4A1	B-lymphocyte antigen CD20	1	B-lymphocyte antigen CD20 binding agent	Phase 1/2	https://conductscience.org/library/genes/931	Drugs and targets
POLA1	DNA polymerase (alpha/delta/epsilon)	1	DNA polymerase (alpha/delta/epsilon) inhibitor	Phase 2	https://conductscience.org/library/genes/5422	Drugs and targets

1 to 10 of 21

See all 21 targets

Trials5

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
NCT04221451	A Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, and Safety of Venglustat in Late-onset GM2	Phase 3	75	2026-01-28	Tay-Sachs Disease, Sandhoff Disease	VENGLUSTAT	Its record names the disease	ClinicalTrials.gov
NCT00383448	HSCT for High Risk Inherited Inborn Errors	Phase 2	38	2019-07-11	Adrenoleukodystrophy, Metachromatic Leukodystrophy, Globoid Cell Leukodystrophy, Tay Sachs Disease, Sandhoffs Disease, Wolman Disease, I-Cell Disease, Sanfilippo Syndrome, GM1 Gangliosidosis	ALEMTUZUMAB, CLOFARABINE, HYDROXYUREA, MELPHALAN, MYCOPHENOLATE MOFETIL	Its record names the disease	ClinicalTrials.gov
NCT07054515	A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease, GM1 Gangliosidosis or GM2 Gangliosidosis	Phase 3	147		Niemann-Pick Type C Disease, GM1 Gangliosidosis, GM2 Gangliosidosis	NIZUBAGLUSTAT	Its record names the disease	ClinicalTrials.gov
NCT07082543	A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of GM1 Gangliosidosis or GM2 Gangliosidosis	Phase 3	75		Gangliosidoses, GM2, Gangliosidosis, GM1	NIZUBAGLUSTAT	Its record names the disease	ClinicalTrials.gov
NCT03952637	A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis	Phase 1/2	54		Lysosomal Diseases, Gangliosidosis, GM1	BOMTABEGAGENE BAVOPARVOVEC, METHYLPREDNISOLONE, PREDNISONE, RITUXIMAB, 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 trials5

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
41665410	DERIVED	1	PubMed
40766118	DERIVED	1	PubMed
35249485	DERIVED	1	PubMed
34539759	DERIVED	1	PubMed
21586746	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_0018149

GET https://conductscience.org/api/diseases/v1/MONDO_0018149/targets?page=2

API reference For AI assistants