GM2 gangliosidosis

Summary

GM2 gangliosidosis (MONDO:0017720) is a disease and 11 clinical trials. Top therapeutic interventions include levacetylleucine, miglustat, and trenonacog alfa. A subtype of gangliosidosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-9 / 100 000 (Europe) [Orphanet-validated]
• Clinical trials: 11

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 100 000	5	Europe	Validated
Prevalence at birth	1-9 / 1 000 000	0.87	Sweden	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	GM2 gangliosidosis
Mondo ID	MONDO:0017720
MeSH	D020143
Orphanet	309152
DOID	DOID:3321
ICD-10-CM	E75.0
ICD-11	1513691830
SNOMED CT	33316007
UMLS	C0268274
MedGen	78656
GARD	0021323
Is cancer (heuristic)	no

Also known as: gangliosidosis GM2 · GM2-gangliosidosis, B, B1, AB variant · GM>2< gangliosidosis

Disease family

An umbrella term covering 3 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › inherited lipid metabolism disorder › lysosomal lipid storage disorder › sphingolipidosis › gangliosidosis › GM2 gangliosidosis

Related subtypes (1): GM1 gangliosidosis

Subtypes (3): Sandhoff disease, Tay-Sachs disease AB variant, Tay-Sachs disease

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

Drugs indicated for this disease

0 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Miglustat	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Trenonacog Alfa.

Clinical trials & evidence

Clinical trials

Clinical trials: 11.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	6
PHASE2	3
PHASE3	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07054515	PHASE3	RECRUITING	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
NCT03822013	PHASE3	TERMINATED	Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD)
NCT07399704	PHASE2	RECRUITING	A Study to Evaluate the Safety and Efficacy of Nizubaglustat (AZ-3102) in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease
NCT03759665	PHASE2	COMPLETED	N-Acetyl-L-Leucine for GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease)
NCT05758922	PHASE2	COMPLETED	Phase 2 Study Evaluating the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Oral AZ-3102 in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease
NCT00668187	Not specified	RECRUITING	A Natural History Study of the Gangliosidoses
NCT03047369	Not specified	RECRUITING	The Myelin Disorders Biorepository Project
NCT06614569	Not specified	ACTIVE_NOT_RECRUITING	Long-Term Follow-Up of Subjects Treated With AXO-AAV-GM2 for Tay-Sachs or Sandhoff Disease
NCT02699190	Not specified	COMPLETED	LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
NCT02851862	Not specified	COMPLETED	A Natural History of Late Onset Tay-Sachs Disease
NCT04470713	Not specified	COMPLETED	Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
LEVACETYLLEUCINE	4	1
MIGLUSTAT	4	1
TRENONACOG ALFA	3	1
GILAVEBEXAGENE ANVUPARVOVEC	1	1