ORPHA:449427
IgG4-related pachymeningitis
Also known as: Idiopathic hypertrophic pachymeningitis
Publications
359
68.2th percentile
Trials
0
Interventional, condition-specific
Researchers
1,030
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, brain inflammatory disease characterized by thickening of the dura mater of the cranium or spine with at least two histiopatholgical features of IgG4-related disease: dense lymphoplasmacytic infiltrate, storiform fibrosis, and/or obliterative phlebitis. Patients typically have non-specific CSF findings, and might be without systemic involvement or serum IgG4 elevation. Clinical manifestation are caused by mechanical compression of nerve or vascular structure, leading to functional deficit, most commonly headache, cranial nerve palsies, vision problems and motor weakness.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018673
- UMLS:C4545992
Additional Mondo synonyms (1)
idiopathic hypertrophic pachymeningitis
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.”
2/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
359 matched papers (202 in last 10 years) Source
- Phenotype characterisedPresent
39 HPO annotations (e.g. Headache; Increased CSF protein concentration; Elevated circulating C-reactive protein concentration) 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
39
Associated phenotypes · MONDO:0018673
- Headache
- Increased CSF protein concentration
- Elevated circulating C-reactive protein concentration
- Diplopia
- Seizure
Showing 5 of 39 — 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?
359
359 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=3967) is 59.
359 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).
202 in the last 10 years · high confidence · 68.2th percentile (publications denominator)
Phrase hits: 359 · MeSH hits: 0
Who's working on it?
1,030
Distinct author names in 200 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.
- 01Silva GD5 papers · 2026
Department of Neurology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Dr. Ovídio Pires de Campos St., 225, São Paulo, São Paulo, Brazil.
Papers in Europe PMC - 02Perry A4 papers · 2020
MS and Neuroinflammation Center, Department of Neurology (R.D.S., J.M.G.), Neuropathology Division, Department of Pathology (M.W., A.P.), and Neuro-ophthalmology Division, Department of Ophthalmology (M.H.L.), University of California, San Francisco.
Papers in Europe PMC - 03Wang J4 papers · 2025
Department of Neurology, Yuquan Hospital, Medical Center, Tsinghua University, Beijing, People's Republic of China.
Papers in Europe PMC - 04Chen Y3 papers · 2025
Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, National Clinical Research Center for Dermatologic and Immunologic Diseases, Beijing, China.
Papers in Europe PMC - 05Graffeo CS3 papers · 2026
Department of Neurologic Surgery, Mayo Clinic, Rochester, MN, USA.
Papers in Europe PMC - 06Lucato LT3 papers · 2026
Neuroradiology Group, InRad, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil.
Papers in Europe PMC - 07Zhang X3 papers · 2022
Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Department of Neurology and Tianjin Neurological Institute, Tianjin Medical University General Hospital, Tianjin, China. Electronic address: shu-@neuro.med.kyushu-u.ac.jp.
Papers in Europe PMC - 08Adoni T2 papers · 2026
Neurology Division, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Rua Doutor Enéas de Carvalho Aguiar, 255 - Cerqueira César, Sao Paulo, SP, 05403-900, Brazil.
Papers in Europe PMC - 09Araújo DABS2 papers · 2024
Faculty of Medicine, Federal University of Ceara, Alexandre Baraúna St., 949, Fortaleza, 60430-160, Ceara, Brazil.
Papers in Europe PMC - 10Balasubramanian K2 papers · 2026
College of Medicine, Texas A&M Health Science Center, Houston, Texas, USA; Department of Neurosurgery, University of Oklahoma College of Medicine, Oklahoma City, Oklahoma, USA.
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).
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.
high 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 IgG4-related pachymeningitis — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
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.
"IgG4-related pachymeningitis" OR "Idiopathic hypertrophic pachymeningitis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"IgG4-related pachymeningitis" OR "Idiopathic hypertrophic pachymeningitis"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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 2026-07-27T16:38:35.259Z