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ORPHA:796

Sandhoff disease

medium confidenceDisorder

Publications

428,926

99.9th percentile

Trials

10

Interventional, condition-specific

Researchers

1,279

Distinct authors in sample

Gene link

HEXB

Definitive

Readiness

6/6

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 and hexosaminidase B deficiency as a consequence of biallelic pathogenic variants in the HEXB gene.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

GM2 gangliosidosis 0 variant · GM2 gangliosidosis, 0 variant · Hexosaminidases A and B deficiency · Sandhoff Jatzkewitz disease

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — HEXB

  2. LiteraturePresent

    428,926 matched papers (267,175 in last 10 years) Source

  3. Phenotype characterisedPresent

    122 HPO annotations (e.g. Macrocephaly; Full cheeks; Hearing impairment) Source

  4. Animal modelPresent

    10 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. pyrimethamine Source

  6. Interventional trialPresent

    10 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 (HEXB).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

122

Associated phenotypes · MONDO:0010006

  • Macrocephaly
  • Full cheeks
  • Hearing impairment
  • Blindness
  • Seizure

Showing 5 of 122 — open Monarch for the full list.

Animal models (Monarch / Alliance)

10

Model associations linked to this Mondo ID

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)

1

Designation · 1 with FDA orphan-indication approval

  • FDA pyrimethamineGangliosidoses Sandhoff Disease Tay-Sachs Disease · 2011-08-16 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

12

Drugs / clinical candidates · MONDO_0010006

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

428,926

428,926 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

428,926 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).

267,175 in the last 10 years · medium confidence · 99.9th percentile (publications denominator)

Phrase hits: 1,666 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,279

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
    Tifft CJ11 papers · 2026

    National Institutes of Health Undiagnosed Diseases Program, National Institutes of Health Office of Rare Diseases Research and National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892.

    Papers in Europe PMC
  2. 02
    Toro C9 papers · 2026

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

    Papers in Europe PMC
  3. 03
    Martin DR6 papers · 2025

    Scott-Ritchey Research Center and Department of Anatomy, Physiology, and Pharmacology, Auburn University College of Veterinary Medicine, Auburn, AL, United States of America.

    Papers in Europe PMC
  4. 04
    Oishi K6 papers · 2023

    Departments of Pharmacology.

    Papers in Europe PMC
  5. 05
    Platt FM6 papers · 2025

    Department of Pharmacology, University of Oxford, Oxford, United Kingdom.

    Papers in Europe PMC
  6. 06
    Sakuraba H6 papers · 2021

    Clinical Genetics, Meiji Pharmaceutical University, Tokyo.

    Papers in Europe PMC
  7. 07
    Walia JS6 papers · 2026

    Centre for Neuroscience Studies, Queen\'s University, Kingston, ON K7L 3N6, Canada.

    Papers in Europe PMC
  8. 08
    Gray-Edwards HL5 papers · 2025

    University of Massachusetts Medical School, Worcester, MA, United States of America.

    Papers in Europe PMC
  9. 09
    Johnston JM5 papers · 2025

    National Institutes of Health, Bethesda, MD, USA.

    Papers in Europe PMC
  10. 10
    Ogawa Y5 papers · 2021

    Departments of Pharmacology.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

10

interventional trials for this specific condition

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

Data as of 11 September 2026 · last trial check 28 July 2026

10 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92.5th percentile).

medium confidence · 92.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

8 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

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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · dropped 0 · fetched 2026-07-29

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 (2)

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 Sandhoff disease — check Associations / patient organisations on that page.

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.

("Sandhoff disease" OR "GM2 gangliosidosis 0 variant" OR "GM2 gangliosidosis, 0 variant" OR "Hexosaminidases A and B deficiency" OR "Sandhoff Jatzkewitz disease") OR ("HEXB" OR "HEXB syndrome" OR "HEXB-related")

Run this search on Europe PMC

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

"Sandhoff disease" OR "GM2 gangliosidosis 0 variant" OR "GM2 gangliosidosis, 0 variant" OR "Hexosaminidases A and B deficiency" OR "Sandhoff Jatzkewitz disease"

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: 10 interventional · 8 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:23:05.243Z