ORPHA:309246
GM2 gangliosidosis, AB variant
Also known as: Hexosaminidase activator deficiency
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
52
38.6th percentile
Trials
0
Interventional, condition-specific
Researchers
352
Distinct authors in sample
Gene link
GM2A
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by neurological decline due to ganglioside activator deficiency.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010099
- MeSH:D049290
- OMIM:272750
- UMLS:C0268275
- NCIT:C133084
Additional Mondo synonyms (1)
hexosaminidase activator deficiency
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — GM2A
- LiteraturePresent
52 matched papers (22 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 10 for broader category GM2 gangliosidosis
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (GM2A).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
52
52 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
52 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
22 in the last 10 years · high confidence · 38.6th percentile (publications denominator)
Phrase hits: 52 · MeSH hits: 0
Who's working on it?
352
Distinct author names in 52 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Sandhoff K8 papers · 2003
Kekulé-Institut für Organische Chemie und Biochemie der Universität, Gerhard-Domagk-Strasse 1, 53121 Bonn, Germany. sandhoff@uni-bonn.de
Papers in Europe PMC - 02Suzuki K7 papers · 1998
Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill 27599-7525, USA. KIS@MED.UNC.Edu
Papers in Europe PMC - 03Lemm T3 papers · 1999Papers in Europe PMC
- 04Sheth J3 papers · 2024
FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad 380015, India.
Papers in Europe PMC - 05Amberger JS2 papers · 1994Papers in Europe PMC
- 06Benkirane M2 papers · 2025
Laboratoire de Génétique Moléculaire, Université de Montpellier, Institut Universitaire de Recherche Clinique, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
Papers in Europe PMC - 07Bhavsar R2 papers · 2024
FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015.
Papers in Europe PMC - 08Duarte AJ2 papers · 2023
Departamento de Genética Humana, Unidade de Investigação e Desenvolvimento, Instituto Nacional de Saúde Ricardo Jorge (INSA), 4000-055 Porto, Portugal.
Papers in Europe PMC - 09Giugliani R2 papers · 2022
Department of Genetics, UFRGS, Medical Genetics Service and Biodiscovery Laboratory, HCPA, Porto Alegre, Brazil.
Papers in Europe PMC - 10Gowda VK2 papers · 2024
Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 10 trials are registered for GM2 gangliosidosis, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
10 interventional trials matched GM2 gangliosidosis, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: GM2 gangliosidosis
10
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT07399704·RECRUITING·A Study to Evaluate the Safety and Efficacy of Nizubaglustat (AZ-3102) in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease
Conditions: GM2 Gangliosidosis · Niemann-Pick Type C Disease·Matched via name phrase
- NCT07054515·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
Conditions: Niemann-Pick Type C Disease · GM1 Gangliosidosis · GM2 Gangliosidosis·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"GM2 gangliosidosis, AB variant" OR "Hexosaminidase activator deficiency"
MeSH descriptor terms unioned into the query: Tay-Sachs Disease, AB Variant
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"GM2 gangliosidosis, AB variant" OR "Hexosaminidase activator deficiency" OR "Tay-Sachs Disease, AB Variant" OR "GM2A"
Recall-expansion terms: GM2A
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"GM2 gangliosidosis"
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T12:55:53.867Z