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ORPHA:355

Gaucher disease

medium confidenceDisorder

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

Publications

13,999

96.1th percentile

Trials

87

Interventional, condition-specific

Researchers

1,239

Distinct authors in sample

Gene link

GBA1

Definitive

Readiness

6/6

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — GBA1

  2. LiteraturePresent

    13,999 matched papers (7,110 in last 10 years) Source

  3. Phenotype characterisedPresent

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

  4. Animal modelPresent

    21 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationPresent

    9 FDA · 11 EMA designations (5 FDA orphan-indication approvals) — e.g. venglustat Source

  6. Interventional trialPresent

    87 matched on ClinicalTrials.gov (9 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)

436

Associated phenotypes · MONDO:0018150

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

Showing 5 of 436 — open Monarch for the full list.

Animal models (Monarch / Alliance)

21

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)

20

Designations · 5 with FDA orphan-indication approval

  • FDA venglustatGaucher Disease · 2014-09-11 · Not FDA Approved for Orphan Indication
  • FDA ambroxolGaucher Disease · 2011-06-29 · Not FDA Approved for Orphan Indication
  • FDA isofagomine tartrateGaucher Disease · 2006-01-10 · Not FDA Approved for Orphan Indication
  • FDA Alendronate disodiumGaucher Disease · 2001-02-13 · Not FDA Approved for Orphan Indication
  • FDA L-cycloserineGaucher's Disease · 1989-08-01 · Not FDA Approved for Orphan Indication
  • EMA taliglucerase alfa (Elelyso)Treatment of Gaucher disease · 23/03/2010 · PositiveEMA designation
  • EMA Adeno-associated viral vector serotype S3 containing codon-optimised expression cassette encoding human beta-glucocerebrosidase variantTreatment of Gaucher disease · 20/08/2021 · PositiveEMA designation
  • EMA (3S)-1-azabicyclo[2.2.2]oct-3-yl{2-[2-(4-fluorophenyl)-1,3-thiazol-4-yl]propan-2-yl}carbaNmate (venglustat)Treatment of Gaucher disease · 19/11/2014 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

15

Drugs / clinical candidates · MONDO_0018150

CTD chemicals (MyDisease.info)

6 associated chemicals · 25 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • miglustat · therapeutic
  • Warfarin · therapeutic
  • Cholesterol, HDL · marker/mechanism
  • Cholesterol, LDL · marker/mechanism
  • conduritol epoxide · marker/mechanism
  • Glucosylceramides · marker/mechanism

Pathways: Other glycan degradation; Amino sugar and nucleotide sugar metabolism; Sphingolipid metabolism; Metabolic pathways; Lysosome; Renin-angiotensin system; Renin secretion; Alzheimer's disease

MyDisease.info · MONDO:0018150

Literature

Is anyone studying this?

13,999

13,999 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.

13,999 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).

7,110 in the last 10 years · medium confidence · 96.1th 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?

87

interventional trials for this specific condition

87 interventional trials matched this specific condition name; 9 currently recruiting in our sample.

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

87 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.3th percentile).

medium confidence · 98.3th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

87 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

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 12 · after dedupe 12 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 12 · 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 (12)

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 — check Associations / patient organisations on that page.

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)") OR (MESH:"Gaucher Disease") OR ("GBA1" OR "GBA1 syndrome" OR "GBA1-related")

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)"

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

Study-type breakdown: 87 interventional · 62 observational · 3 expanded access. Only interventional studies enter the trial headline.

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

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