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ORPHA:77260

Gaucher disease type 2

medium confidenceSubtype of disorder

Also known as: Acute neuronopathic Gaucher disease · Infantile cerebral Gaucher disease

Publications

220

69.5th percentile

Trials

8

Interventional, condition-specific

Researchers

1,230

Distinct authors in sample

Gene link

GBA1

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

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 (5)

Gaucher disease type II · Gaucher disease, acute neuronopathic type · Gaucher's disease type II · acute neuronopathic Gaucher disease · infantile cerebral 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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — GBA1

  2. LiteraturePresent

    220 matched papers (120 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

    8 matched on ClinicalTrials.gov (4 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)

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?

220

220 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=5449) is 41.

220 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).

120 in the last 10 years · medium confidence · 69.5th percentile (publications denominator)

Phrase hits: 220 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,230

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 E23 papers · 2025

    Section on Molecular Neurogenetics, Medical Genetics Branch, National Institutes of Health, Bethesda, MD 20892, USA. sidranse@mail.nih.gov.

    Papers in Europe PMC
  2. 02
    Grabowski GA12 papers · 2019

    Division of Human Genetics, Cincinnati Children's Hospital Research Foundation, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States of America; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States of America; Synageva BioPharma Corp., Lexington, Massachusetts, United States of America.

    Papers in Europe PMC
  3. 03
    Tayebi N9 papers · 2020

    Section on Molecular Neurogenetics, Medical Genetics Branch, National Institutes of Health, Bethesda, MD 20892, USA.

    Papers in Europe PMC
  4. 04
    Sun Y8 papers · 2019

    Division of Human Genetics, Cincinnati Children's Hospital Research Foundation, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States of America; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States of America.

    Papers in Europe PMC
  5. 05
    Brady RO5 papers · 2010

    National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA. bradyr@ninds.nih.gov

    Papers in Europe PMC
  6. 06
    Chan JKY4 papers · 2024

    Academic Clinical Program in Obstetrics and Gynaecology, Duke-NUS Medical School, Singapore; Department of Reproductive Medicine, KK Women's and Children's Hospital, Singapore.

    Papers in Europe PMC
  7. 07
    Goker-Alpan O4 papers · 2026

    Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), Fairfax, Virginia.

    Papers in Europe PMC
  8. 08
    Lopez G4 papers · 2020

    Section on Molecular Neurogenetics, Medical Genetics Branch, National Institutes of Health, Bethesda, MD 20892, USA.

    Papers in Europe PMC
  9. 09
    Mistry PK4 papers · 2026

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

    Papers in Europe PMC
  10. 10
    Ran H4 papers · 2019

    Division of Human Genetics, Cincinnati Children's Hospital Research Foundation, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States of America.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

8

interventional trials for this specific condition

8 interventional trials matched this specific condition name; 4 currently recruiting in our sample. 85 trials are registered for Gaucher disease, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

8 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 90.6th percentile).

medium confidence · 90.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: Gaucher disease

85

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

2 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

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 2" OR "Acute neuronopathic Gaucher disease" OR "Infantile cerebral Gaucher disease" OR "Gaucher disease type II" OR "Gaucher disease, acute neuronopathic type" OR "Gaucher's disease type II"

Run this search on Europe PMC

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

"Gaucher disease type 2" OR "Acute neuronopathic Gaucher disease" OR "Infantile cerebral Gaucher disease" OR "Gaucher disease type II" OR "Gaucher disease, acute neuronopathic type" OR "Gaucher's disease type II" OR "GBA1"

Recall-expansion terms: GBA1

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

Study-type breakdown: 8 interventional · 2 observational · 1 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"Gaucher disease"

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 (220) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T01:52:10.903Z