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ORPHA:77259

Gaucher disease type 1

high confidenceSubtype of disorder

Also known as: Non-cerebral juvenile Gaucher disease

Publications

3,755

92.4th percentile

Trials

32

Interventional, condition-specific

Researchers

1,222

Distinct authors in sample

Gene link

GBA1

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia.

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 (4)

Gaucher disease type I · Gaucher disease, noncerebral juvenile · Gaucher's disease type I · non-cerebral juvenile 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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — GBA1

  2. LiteraturePresent

    3,755 matched papers (3,139 in last 10 years) Source

  3. Phenotype characterisedPresent

    73 HPO annotations (e.g. Decreased beta-glucocerebrosidase level; Gingival bleeding; Bruising susceptibility) Source

  4. Animal modelPresent

    6 genotype models (Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    32 matched on ClinicalTrials.gov (5 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)

73

Associated phenotypes · MONDO:0009265

  • Decreased beta-glucocerebrosidase level
  • Gingival bleeding
  • Bruising susceptibility
  • Hepatosplenomegaly
  • Thrombocytopenia

Showing 5 of 73 — open Monarch for the full list.

Animal models (Monarch / Alliance)

6

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)

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?

3,755

3,755 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.

3,755 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).

3,139 in the last 10 years · high confidence · 92.4th percentile (publications denominator)

Phrase hits: 820 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,222

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
    Mistry PK11 papers · 2026

    Yale University School of Medicine, New Haven, CT, USA.

    Papers in Europe PMC
  2. 02
    Peterschmitt MJ11 papers · 2025

    Sanofi Genzyme, Cambridge, MA, USA.

    Papers in Europe PMC
  3. 03
    Balwani M8 papers · 2026

    Icahn School of Medicine at Mount Sinai, New York, NY, USA.

    Papers in Europe PMC
  4. 04
    Belmatoug N8 papers · 2025

    Médecine Interne, AP-HP, Hôpital Beaujon, 100 boulevard Général Leclerc, 92110, Clichy, France.

    Papers in Europe PMC
  5. 05
    Schwartz IVD8 papers · 2025

    Postgraduate Program in Medical Sciences, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.

    Papers in Europe PMC
  6. 06
    Charrow J7 papers · 2024

    Northwestern University Feinberg School of Medicine, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA. Electronic address: jcharrow@northwestern.edu.

    Papers in Europe PMC
  7. 07
    Foster MC6 papers · 2025

    Sanofi Genzyme, Cambridge, Massachusetts, United States.

    Papers in Europe PMC
  8. 08
    Lukina E6 papers · 2025

    National Research Center for Hematology, Moscow, Russia.

    Papers in Europe PMC
  9. 09
    Cox TM5 papers · 2025

    University of Cambridge, Department of Medicine, Box 157, Level 5, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK. Electronic address: tmc12@medschl.cam.ac.uk.

    Papers in Europe PMC
  10. 10
    Gaemers SJM5 papers · 2021

    Sanofi Genzyme, Cambridge, MA, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

32

interventional trials for this specific condition

32 interventional trials matched this specific condition name; 5 currently recruiting in our sample. 56 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

32 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 96.2th percentile).

high confidence · 96.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: Gaucher disease

56

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

7 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 1 — 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 1" OR "Non-cerebral juvenile Gaucher disease" OR "Gaucher disease type I" OR "Gaucher disease, noncerebral juvenile" OR "Gaucher's disease type I") 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 1" OR "Non-cerebral juvenile Gaucher disease" OR "Gaucher disease type I" OR "Gaucher disease, noncerebral juvenile" OR "Gaucher's disease type I"

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: 32 interventional · 7 observational · 1 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

Ingested 2026-07-27T01:51:56.873Z