ORPHA:309192
Tay-Sachs disease, adult form
Also known as: Beta-hexosaminidase subunit alpha deficiency, adult form · GM2 gangliosidosis, Tay-Sachs variant, adult form · GM2 gangliosidosis, hexosaminidase A deficiency variant, adult form · HEXA disorder, adult form · Late-onset Tay-Sachs disease
Publications
123
49.5th percentile
Trials
0
Interventional, condition-specific
Researchers
523
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0017726
- UMLS:C1848914
Additional Mondo synonyms (2)
GM2 gangliosidosis, B variant, adult form · hexosaminidase A deficiency, adult form
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.”
2/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
123 matched papers (58 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPartial
None under the specific name; 11 for broader category Tay-Sachs disease
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
123
123 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=3967) is 59.
123 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
58 in the last 10 years · high confidence · 49.5th percentile (publications denominator)
Phrase hits: 123 · MeSH hits: 0
Who's working on it?
523
Distinct author names in 123 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.
- 01Shapiro BE7 papers · 2011
Neuromuscular Division, Department of Neurology, University Hospitals of Cleveland, Case Western Reserve University School of Medicine, Cleveland, OH 44106-5098, USA. bes002@aol.com
Papers in Europe PMC - 02Kolodny EH6 papers · 2009Papers in Europe PMC
- 03Rucker JC6 papers · 2022
Department of Neurology Department of Ophthalmology, Mount Sinai School of Medicine, New York, New York 10029, USA. janet.rucker@mssm.edu
Papers in Europe PMC - 04Leigh RJ5 papers · 2021
Department of Neurology, Case Western Reserve University, Cleveland, OH, USA.
Papers in Europe PMC - 05Pastores GM5 papers · 2009Papers in Europe PMC
- 06Keller EL4 papers · 2011
Smith-Kettlewell Eye Research Institute, San Francisco, CA, USA. elk@ski.org
Papers in Europe PMC - 07Navon R4 papers · 2024
Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. rnavon@post.tau.ac.il.
Papers in Europe PMC - 08Platt FM4 papers · 2018
Glycobiology Institute, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK. fran@glycob.ox.ac.uk
Papers in Europe PMC - 09
- 10
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. 3 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial. 11 trials are registered for Tay-Sachs disease, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
high confidence · 38.6th 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.
11 interventional trials matched Tay-Sachs disease, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: Tay-Sachs disease
11
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
- NCT02254863·RECRUITING·UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
Conditions: Adrenoleukodystrophy · Batten Disease · Mucopolysaccharidosis II · Leukodystrophy, Globoid Cell·Matched via name phrase
Observational and natural-history studies
3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT00668187·RECRUITING·A Natural History Study of the Gangliosidoses
Conditions: Tay-Sachs Disease · Sandhoff Disease · Late Onset Tay-Sachs Disease · GM1 Gangliosidosis·Matched via name phrase
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (1)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Tay-Sachs disease, adult form — check Associations / patient organisations on that page.
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.
"Tay-Sachs disease, adult form" OR "Beta-hexosaminidase subunit alpha deficiency, adult form" OR "GM2 gangliosidosis, Tay-Sachs variant, adult form" OR "GM2 gangliosidosis, hexosaminidase A deficiency variant, adult form" OR "HEXA disorder, adult form" OR "Late-onset Tay-Sachs disease" OR "GM2 gangliosidosis, B variant, adult form" OR "hexosaminidase A deficiency, adult form"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Tay-Sachs disease, adult form" OR "Beta-hexosaminidase subunit alpha deficiency, adult form" OR "GM2 gangliosidosis, Tay-Sachs variant, adult form" OR "GM2 gangliosidosis, hexosaminidase A deficiency variant, adult form" OR "HEXA disorder, adult form" OR "Late-onset Tay-Sachs disease" OR "GM2 gangliosidosis, B variant, adult form" OR "hexosaminidase A deficiency, adult form"
Study-type breakdown: 0 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Tay-Sachs disease"
Query health: ok — strategies attempted: phrase; 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 2026-07-27T12:55:41.381Z