ORPHA:309169
Sandhoff disease, adult form
Also known as: Beta-hexosaminidase subunit beta deficiency, adult form · GM2 gangliosidosis, Sandhoff variant, adult form · GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form
Publications
17
8th percentile
Trials
0
Interventional, condition-specific
Researchers
110
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0017723
- UMLS:C0751489
Additional Mondo synonyms (4)
Hexosaminidases A and B deficiency, adult form · Sandhoff disease of adults · adult GM2 gangliosidosis 0 variant · adult Sandhoff 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.”
3/6 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
17 matched papers (1 in last 10 years) Source
- Phenotype characterisedPresent
20 HPO annotations (e.g. Dysarthria; Mental deterioration; Gait ataxia) Source
- 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 Sandhoff 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)
20
Associated phenotypes · MONDO:0017723
- Dysarthria
- Mental deterioration
- Gait ataxia
- Sensory axonal neuropathy
- Upper limb muscle weakness
Showing 5 of 20 — open Monarch for the full list.
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?
17
17 papers have ever been indexed 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.
17 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).
1 in the last 10 years · high confidence · 8th percentile (publications denominator)
Phrase hits: 17 · MeSH hits: 0
Who's working on it?
110
Distinct author names in 17 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.
- 01Kohno Y2 papers · 2002
Department of Neurology, Institute of Clinical Medicine, University of Tsukuba.
Papers in Europe PMC - 02Shoji S2 papers · 2002Papers in Europe PMC
- 03Yoshizawa T2 papers · 2002
Department of Neurology, Institute of Clinical Medicine, University of Tsukuba, 1-1-1 Tennodai, 305-8575, Tsukuba, Japan. toshi-yo@md.tsukuba.ac.jp
Papers in Europe PMC - 04Amaya N1 paper · 2007Papers in Europe PMC
- 05Baek RC1 paper · 2010Papers in Europe PMC
- 06Bakar D1 paper · 2015Papers in Europe PMC
- 07Baker EH1 paper · 2015Papers in Europe PMC
- 08Barbeau A1 paper · 1984Papers in Europe PMC
- 09Beker-Acay M1 paper · 2016
Department of Radiology, Afyon Kocatepe University, Faculty of Medicine, Afyonkarahisar, Turkey.
Papers in Europe PMC - 10Bosshard NU1 paper · 1995Papers 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). 11 trials are registered for Sandhoff 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 Sandhoff disease, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: Sandhoff 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
- NCT07740512·NOT YET RECRUITING·Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of PLX-200 in Pediatric Patients (Master Protocol)
Conditions: Lysosomal Storage Disorders · Sandhoff Disease · Krabbe Disease · CLN2·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 Sandhoff 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.
"Sandhoff disease, adult form" OR "Beta-hexosaminidase subunit beta deficiency, adult form" OR "GM2 gangliosidosis, Sandhoff variant, adult form" OR "GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form" OR "Hexosaminidases A and B deficiency, adult form" OR "Sandhoff disease of adults" OR "Sandhoff disease of the adults" OR "adult GM2 gangliosidosis 0 variant" OR "adult Sandhoff disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Sandhoff disease, adult form" OR "Beta-hexosaminidase subunit beta deficiency, adult form" OR "GM2 gangliosidosis, Sandhoff variant, adult form" OR "GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form" OR "Hexosaminidases A and B deficiency, adult form" OR "Sandhoff disease of adults" OR "Sandhoff disease of the adults" OR "adult GM2 gangliosidosis 0 variant" OR "adult Sandhoff disease"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Sandhoff 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 2026-07-27T12:55:15.074Z