Disease · MONDO_0017720

GM2 gangliosidosis

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. GM2 gangliosidosis. Diseases, record MONDO_0017720. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0017720

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: GM2 gangliosidosis; Open Targets
Open Targets ID: MONDO_0017720; Open Targets
Other names: GM>2< gangliosidosis, Gangliosidoses, GM2, gangliosidosis GM2; Open Targets
Disease Ontology: DOID:3321; Disease Ontology
MeSH: D020143; MeSH
Orphanet: ORPHA:309152; Orphanet
Highest stage of its drugs: Phase 3, for 1 of its 4 drugs, from ClinicalTrials.gov; Open Targets

Drugs4

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	4	4	3	Drugs and targets
MIGLUSTAT	CHEMBL1029	Small molecule	Phase 2	ClinicalTrials.gov	2	2	2	Drugs and targets
LEVACETYLLEUCINE	CHEMBL56021	Small molecule	Phase 2	ClinicalTrials.gov	2	1	1	Drugs and targets
TRENONACOG ALFA	CHEMBL3039538		Phase 2	ClinicalTrials.gov	1	1	1	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
F9	Coagulation factor IX	1	Coagulation factor IX exogenous protein	Phase 2	https://conductscience.org/library/genes/2158	Drugs and targets
UGCG	Ceramide glucosyltransferase	1	Ceramide glucosyltransferase inhibitor	Phase 2	https://conductscience.org/library/genes/7357	Drugs and 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. 1 more is not shown, since the checks do not confirm it.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT03759665	N-Acetyl-L-Leucine for GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease)	Phase 2	30	2024-03-12	GM2 Gangliosidosis, Tay-Sachs Disease, Sandhoff Disease	LEVACETYLLEUCINE, TRENONACOG ALFA	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
NCT07399704	A Study to Evaluate the Safety and Efficacy of Nizubaglustat (AZ-3102) in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease	Phase 2	21		GM2 Gangliosidosis, Niemann-Pick Type C Disease	MIGLUSTAT, NIZUBAGLUSTAT	Its record names the disease	ClinicalTrials.gov
NCT00418847	Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 Gangliosidosis	Phase 2	5		Gangliosidoses GM2	MIGLUSTAT	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
Treatment With IB1001 vs Post-Treatment Washout: deaths from any cause	0 of 30	0 of 30	60	NCT03759665	Trial comparisons
Treatment With IB1001 vs Post-Treatment Washout: serious adverse events	2 of 30	0 of 30	60	NCT03759665	Trial comparisons

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
19595619	RESULT	1	PubMed
42467089	DERIVED	1	PubMed
36456200	DERIVED	1	PubMed
34349180	DERIVED	1	PubMed
33482890	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_0017720

GET https://conductscience.org/api/diseases/v1/MONDO_0017720/drugs

API reference For AI assistants