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ORPHA:845

Tay-Sachs disease

low confidenceDisorder

Also known as: Beta-hexosaminidase subunit alpha deficiency · GM2 gangliosidosis, Tay-Sachs variant · GM2 gangliosidosis, hexosaminidase A deficiency variant · HEXA disorder

Publications

4,678

Trials

37

Interventional, condition-specific

Researchers

1,212

Distinct authors in sample

Gene link

HEXA

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare lysosomal disease characterized by accumulation of GM2 gangliosides in the nervous system due to hexosaminidase A deficiency as a consequence of biallelic pathogenic variants in the HEXA gene.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (6)

GM2 gangliosidosis, B, B1 variant · GM2-gangliosidosis, several forms · Hex A pseudodeficiency · Tay Sachs Disease · disease, Tay-Sachs · hexosaminidase A 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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — HEXA

  2. LiteraturePresent

    4,678 matched papers (1,315 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    37 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (HEXA).

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?

4,678

4,678 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

4,678 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).

1,315 in the last 10 years · low confidence

Phrase hits: 4,678 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,212

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Seyrantepe V17 papers · 2026

    Department of Molecular Biology and Genetics, Izmir Institute of Technology, Izmir, Turkey.

    Papers in Europe PMC
  2. 02
    Tifft CJ8 papers · 2026

    NIH Undiagnosed Diseases Program, NIH Common Fund, National Institutes of Health, Bethesda MD, United States; Glycosphingolipid Disorders Unit, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, United States.

    Papers in Europe PMC
  3. 03
    Toro C6 papers · 2026

    NIH Undiagnosed Diseases Program, NIH Common Fund, National Institutes of Health, Bethesda MD, United States.

    Papers in Europe PMC
  4. 04
    Can M5 papers · 2026

    Department of Molecular Biology and Genetics, Izmir Institute of Technology, Izmir, Turkey.

    Papers in Europe PMC
  5. 05
    Ateş N4 papers · 2025

    İzmir Institute of Technology, Department of Molecular Biology and Genetics, İzmir, Turkey.

    Papers in Europe PMC
  6. 06
    Basırlı H4 papers · 2026

    Department of Molecular Biology and Genetics, Izmir Institute of Technology, Izmir, Turkey.

    Papers in Europe PMC
  7. 07
    Demir SA4 papers · 2025

    Izmir Institute of Technology, IYTEDEHAM, Izmir, Turkey.

    Papers in Europe PMC
  8. 08
    Espejo-Mojica AJ4 papers · 2026

    Institute for the Study of Inborn Errors of Metabolism, Faculty of Science, Pontificia Universidad Javeriana, Bogotá D.C. 110231, Colombia.

    Papers in Europe PMC
  9. 09
    Jiang X4 papers · 2026

    Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO 63130, United States of America.

    Papers in Europe PMC
  10. 10
    Leal AF4 papers · 2026

    Institute for the Study of Inborn Errors of Metabolism, Faculty of Science, Pontificia Universidad Javeriana, Bogotá D.C. 110231, Colombia.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

37

interventional trials for this specific condition

37 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

37 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 96.3th percentile).

low confidence · 96.3th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

37 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

10 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

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

This 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" OR "Beta-hexosaminidase subunit alpha deficiency" OR "GM2 gangliosidosis, Tay-Sachs variant" OR "GM2 gangliosidosis, hexosaminidase A deficiency variant" OR "HEXA disorder" OR "GM2 gangliosidosis, B, B1 variant" OR "GM2-gangliosidosis, several forms" OR "Hex A pseudodeficiency" OR "Tay Sachs Disease" OR "disease, Tay-Sachs" OR "hexosaminidase A deficiency"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Tay-Sachs disease" OR "Beta-hexosaminidase subunit alpha deficiency" OR "GM2 gangliosidosis, Tay-Sachs variant" OR "GM2 gangliosidosis, hexosaminidase A deficiency variant" OR "HEXA disorder" OR "GM2 gangliosidosis, B, B1 variant" OR "GM2-gangliosidosis, several forms" OR "Hex A pseudodeficiency" OR "Tay Sachs Disease" OR "disease, Tay-Sachs" OR "hexosaminidase A deficiency" OR "HEXA"

Recall-expansion terms: HEXA

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 37 interventional · 10 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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
  • Publication count (4678) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T15:37:38.476Z