ORPHA:85212
Fetal Gaucher disease
Also known as: Perinatal lethal Gaucher disease
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
3,125
Trials
0
Interventional, condition-specific
Researchers
207
Distinct authors in sample
Gene link
GBA1
Definitive
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD).
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011945
- MeSH:C564306
- OMIM:608013
- UMLS:C1842704
Additional Mondo synonyms (9)
Gaucher disease collodion type · Gaucher disease perinatal lethal · Gaucher disease, collodion type · Gaucher disease, perinatal lethal · Gaucher disease, perinatal-lethal form · Gaucher's disease perinatal lethal · fetal Gaucher disease · foetal Gaucher disease · perinatal lethal 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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — GBA1
- LiteraturePresent
3,125 matched papers (2,819 in last 10 years) Source
- Phenotype characterisedPresent
76 HPO annotations (e.g. Decreased body weight; Desquamation of skin soon after birth; Congenital nonbullous ichthyosiform erythroderma) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPartial
None under the specific name; 87 for broader category Gaucher disease
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)
76
Associated phenotypes · MONDO:0011945
- Decreased body weight
- Desquamation of skin soon after birth
- Congenital nonbullous ichthyosiform erythroderma
- Strabismus
- Hypertelorism
Showing 5 of 76 — 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
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?
3,125
3,125 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.
3,125 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).
2,819 in the last 10 years · low confidence
Phrase hits: 35 · MeSH hits: 0
Who's working on it?
207
Distinct author names in 35 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Sidransky E4 papers · 2021
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, USA. Electronic address: sidranse@mail.nih.gov.
Papers in Europe PMC - 02Kingsmore S2 papers · 2012Papers in Europe PMC
- 03Maire I2 papers · 2006Papers in Europe PMC
- 04Mignot C2 papers · 2006
Service de Neurologie Pédiatrique, Hôpital Armand Trousseau, AP-HP, Paris, Centre de Référence des Maladies Lysosomiales, 26 avenue du docteur Arnold Netter, 75012 Paris, France
Papers in Europe PMC - 05Proia RL2 papers · 2021
Genetics of Development and Disease Section, Genetics and Biochemistry Branch, National Institute of Diabetes and Digestive and Kidney Diseases, 9000 Rockville Pike, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: proia@nih.gov.
Papers in Europe PMC - 06Vanier MT2 papers · 2017
Unité 820, Institut National de la Santé et de la Recherche Médicale (INSERM), Lyon, France.
Papers in Europe PMC - 07Adachi H1 paper · 2017
Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan.
Papers in Europe PMC - 08Adachi Y1 paper · 1998
First Department of Pathology, Kansai Medical University, Moriguchi, Japan.
Papers in Europe PMC - 09Akdag A1 paper · 2011
Zekai Tahir Burak Maternity Teaching Hospital, Ankara, Turkey. arzuakdag@hotmail.com
Papers in Europe PMC - 10Al Harthy T1 paper · 2023
Schulich School of Medicine and Dentistry Western University London Ontario Canada.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 87 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 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
87 interventional trials matched Gaucher disease, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: Gaucher disease
87
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
- NCT06272149·RECRUITING·An Exploratory Clinical Trial of VGN-R08b in Patients With Type II Gaucher Disease
Conditions: Type II Gaucher Disease·Matched via name phrase
- NCT04532047·RECRUITING·PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)
Conditions: MPS I · MPS II · MPS IVA · MPS VI·Matched via name phrase
- NCT07715084·NOT YET RECRUITING·Study to Evaluate the Efficacy and Safety of Nizubaglustat (AZ-3102) in Patients With Gaucher Disease Type 3 (GD3)
Conditions: Gaucher Disease Type 3·Matched via name phrase
- NCT06818838·RECRUITING·A Clinical Study Evaluating LY-M001 Injection in the Treatment of Adult Patients With Type I Gaucher Disease
Conditions: Gaucher Disease Type 1·Matched via name phrase
- NCT06162338·RECRUITING·A Study of the Safety and Preliminary Efficacy of LY-M001 Injection in the Treatment of Adult Patients With Gaucher Disease Type I
Conditions: Gaucher Disease Type I·Matched via name phrase
- NCT07603050·NOT YET RECRUITING·A Phase I/II Clinical Study to Evaluate the Safety and Efficacy of VGN-R08b in Patients With Type III Gaucher's Disease
Conditions: Gaucher Disease Type 3·Matched via name phrase
- NCT07223944·RECRUITING·A Gaucher Disease Gene Therapy Trial With FLT201
Conditions: Gaucher Disease Type 1·Matched via name phrase
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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).
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 Fetal Gaucher disease — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26Likely 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.
("Fetal Gaucher disease" OR "Perinatal lethal Gaucher disease" OR "Gaucher disease collodion type" OR "Gaucher disease perinatal lethal" OR "Gaucher disease, collodion type" OR "Gaucher disease, perinatal lethal" OR "Gaucher disease, perinatal-lethal form" OR "Gaucher's disease perinatal lethal" OR "foetal Gaucher disease") OR (MESH:"Gaucher Disease, Perinatal Lethal") OR ("GBA1" OR "GBA1 syndrome" OR "GBA1-related")MeSH descriptor terms unioned into the query: Gaucher Disease, Perinatal Lethal
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Fetal Gaucher disease" OR "Perinatal lethal Gaucher disease" OR "Gaucher disease collodion type" OR "Gaucher disease perinatal lethal" OR "Gaucher disease, collodion type" OR "Gaucher disease, perinatal lethal" OR "Gaucher disease, perinatal-lethal form" OR "Gaucher's disease perinatal lethal" OR "foetal Gaucher disease"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Gaucher disease"
Query health: suspect — strategies attempted: phrase, mesh; 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 (3125) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T02:50:42.517Z