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ORPHA:77261

Gaucher disease type 3

low confidenceSubtype of disorder

Also known as: Cerebral juvenile and adult form of Gaucher disease · Chronic neuronopathic Gaucher disease · Gaucher disease, subacute neuronopathic type

Publications

3,292

Trials

14

Interventional, condition-specific

Researchers

1,109

Distinct authors in sample

Gene link

GBA1

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1.

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (7)

Gaucher disease type III · Gaucher disease, Subacute neuronopathic type · Gaucher disease, chronic neuronopathic type · Gaucher disease, juvenile and adult, cerebral · Gaucher's disease type III · cerebral juvenile and adult form of Gaucher disease · chronic neuronopathic Gaucher 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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — GBA1

  2. LiteraturePresent

    3,292 matched papers (2,901 in last 10 years) Source

  3. Phenotype characterisedPresent

    59 HPO annotations (e.g. Encephalopathy; Bone pain; Dementia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    14 matched on ClinicalTrials.gov (3 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 (GBA1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

59

Associated phenotypes · MONDO:0009267

  • Encephalopathy
  • Bone pain
  • Dementia
  • Delayed puberty
  • Generalized myoclonic seizure

Showing 5 of 59 — 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

2

Drugs / clinical candidates · MONDO_0009267

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

3,292

3,292 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=3967) is 59.

3,292 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).

2,901 in the last 10 years · low confidence

Phrase hits: 269 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,109

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
    Sidransky E17 papers · 2025

    From the Section on Molecular Neurogenetics (T.R.L., G.K.S., A.M.S., C.P., E.R., N.T., G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; and Genetics and Metabolism Rare Disease Institute (T.R.L.), Children's National Medical Center, Washington, DC. sidranse@mail.nih.gov.

    Papers in Europe PMC
  2. 02
    Schiffmann R13 papers · 2025

    Baylor Scott & White Research Institute, Dallas, Texas.

    Papers in Europe PMC
  3. 03
    Mengel E10 papers · 2025

    Department of Lysosomal Storage Disorder, Villa Metabolica, Center for Paediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg University Mainz, Langenbeckstrasse 1, 55131 Mainz, Germany. mengel@kinder.klinik.uni-mainz.de.

    Papers in Europe PMC
  4. 04
    Mistry PK7 papers · 2026

    Department of Medicine and Pediatrics, Yale Lysosomal Disease Center, Yale School of Medicine, New Haven, Connecticut, USA

    Papers in Europe PMC
  5. 05
    Al-Khzouz C6 papers · 2021

    Regional Center of Medical Genetics Cluj, Emergency Clinical Hospital for Children, Cluj-Napoca, Romania

    Papers in Europe PMC
  6. 06
    Cox TM6 papers · 2025

    Department of Medicine, University of Cambridge, Cambridge, UK.

    Papers in Europe PMC
  7. 07
    Grabowski GA6 papers · 2017

    The Division of Human Genetics and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA Synageva BioPharma, Lexington, MA 02421, USA gregory.grabowski@synageva.com.

    Papers in Europe PMC
  8. 08
    Grigorescu-Sido P6 papers · 2021

    Regional Genetics Center Cluj – Children’s Emergency Hospital, Cluj-Napoca, Romania

    Papers in Europe PMC
  9. 09
    Ryan E6 papers · 2025

    From the Section on Molecular Neurogenetics (T.R.L., G.K.S., A.M.S., C.P., E.R., N.T., G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; and Genetics and Metabolism Rare Disease Institute (T.R.L.), Children's National Medical Center, Washington, DC.

    Papers in Europe PMC
  10. 10
    Bucerzan S5 papers · 2021

    1 Pediatric Department, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

14

interventional trials for this specific condition

14 interventional trials matched this specific condition name; 3 currently recruiting in our sample. 73 trials are registered for Gaucher 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 28 July 2026

14 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 93.7th percentile).

low confidence · 93.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: Gaucher disease

73

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

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

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 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · 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 (5)

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 Gaucher disease type 3 — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Likely covered — the policy lists Gaucher disease as a category (Group 3), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.

Group 3 — high-cost / lifelong therapy with careful selection

Up to ₹50 lakh per patient

Financial support at notified Centres of Excellence is the figure commonly cited in recent MoHFW/PIB statements. Many Group 3 patients also use the MoHFW voluntary-contribution / crowdfunding portal.

Eligibility and patient selection rules change. Verify with a CoE; the crowdfunding portal is a separate mechanism from CoE funding. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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.

("Gaucher disease type 3" OR "Cerebral juvenile and adult form of Gaucher disease" OR "Cerebral juvenile and adult form of the Gaucher disease" OR "Chronic neuronopathic Gaucher disease" OR "Gaucher disease, subacute neuronopathic type" OR "Gaucher disease type III" OR "Gaucher disease, chronic neuronopathic type" OR "Gaucher disease, juvenile and adult, cerebral" OR "Gaucher's disease type III") OR ("GBA1" OR "GBA1 syndrome" OR "GBA1-related")

Run this search on Europe PMC

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

"Gaucher disease type 3" OR "Cerebral juvenile and adult form of Gaucher disease" OR "Cerebral juvenile and adult form of the Gaucher disease" OR "Chronic neuronopathic Gaucher disease" OR "Gaucher disease, subacute neuronopathic type" OR "Gaucher disease type III" OR "Gaucher disease, chronic neuronopathic type" OR "Gaucher disease, juvenile and adult, cerebral" OR "Gaucher's disease type III"

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: 14 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"Gaucher 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
  • Publication count (3292) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T01:52:22.877Z