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ORPHA:355

Gaucher disease

medium confidenceDisorder

Also known as: Acid beta-glucosidase deficiency · Glucocerebrosidase deficiency

Publications

12,325

97.7th percentile

Trials

93

Interventional, condition-specific

Researchers

1,239

Distinct authors in sample

Gene link

GBA1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).

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 (7)

Gaucher syndrome · acid beta-glucosidase deficiency · glucocerebrosidase deficiency · glucocerebrosidosis · glucosylceramidase deficiency · glucosylceramide beta-glucosidase deficiency · lipoid histiocytosis (kerasin type)

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 — GBA1

  2. LiteraturePresent

    12,325 matched papers (5,500 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

    93 matched on ClinicalTrials.gov (12 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: 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?

12,325

12,325 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=5449) is 41.

12,325 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).

5,500 in the last 10 years · medium confidence · 97.7th percentile (publications denominator)

Phrase hits: 12,325 · MeSH hits: 289

Open Europe PMC search

Who's working on it?

1,239

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
    Revel-Vilk S7 papers · 2026

    Gaucher Unit, The Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem, Israel.

    Papers in Europe PMC
  2. 02
    Mistry PK6 papers · 2026

    Department of Internal Medicine, Yale School of Medicine, New Haven, CT, United States.

    Papers in Europe PMC
  3. 03
    Sidransky E5 papers · 2026

    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.

    Papers in Europe PMC
  4. 04
    Zhang L5 papers · 2026

    Lanzhou University Second Hospital, Lanzhou, Gansu, China.

    Papers in Europe PMC
  5. 05
    Zhao X5 papers · 2026

    Divisions of Pathology and Laboratory Medicine and Biomedical Informatics, Burnet Campus, 3333 Burnet Avenue, Cincinnati, OH 45229-3026, USA.

    Papers in Europe PMC
  6. 06
    Zimran A5 papers · 2026

    Gaucher Unit, The Eisenberg R&D Authority, Shaare Zedek Medical Center, Jerusalem, Israel.

    Papers in Europe PMC
  7. 07
    Berger MG4 papers · 2026

    Service d'Hématologie Biologique et service d'Hématologie Clinique Adulte, CHU Estaing, Clermont-Ferrand, France.

    Papers in Europe PMC
  8. 08
    Caillaud C4 papers · 2026

    Laboratoire de Biochimie, Métabolomique et Protéomique, AP-HP.Centre Université Paris Cité, Hôpital Necker-Enfants Malades, Paris, France.

    Papers in Europe PMC
  9. 09
    Camou F4 papers · 2026

    Service de Médecine Interne et Maladies Infectieuses, Hôpital Haut-Lévêque, CHU de Bordeaux, Pessac, France.

    Papers in Europe PMC
  10. 10
    Ficicioglu C4 papers · 2026

    The Children's Hospital of Philadelphia, Division of Human Genetics and Metabolism, Philadelphia, Pennsylvania, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

93

interventional trials for this specific condition

93 interventional trials matched this specific condition name; 12 currently recruiting in our sample.

Data as of 27 July 2026

93 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 98.3th percentile).

medium confidence · 98.3th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

62 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

Directly listed under NPRD Group 3.

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" OR "Acid beta-glucosidase deficiency" OR "Glucocerebrosidase deficiency" OR "Gaucher syndrome" OR "glucocerebrosidosis" OR "glucosylceramidase deficiency" OR "glucosylceramide beta-glucosidase deficiency" OR "lipoid histiocytosis (kerasin type)"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Gaucher Disease

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

"Gaucher disease" OR "Acid beta-glucosidase deficiency" OR "Glucocerebrosidase deficiency" OR "Gaucher syndrome" OR "glucocerebrosidosis" OR "glucosylceramidase deficiency" OR "glucosylceramide beta-glucosidase deficiency" OR "lipoid histiocytosis (kerasin type)" OR "GBA1"

Recall-expansion terms: GBA1

Interventional trials matched via: both, 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: 93 interventional · 62 observational · 4 expanded access. Only interventional studies enter the trial headline.

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

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 2026-07-26T13:31:51.565Z