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ORPHA:2495

Meningioma

medium confidenceDisorder

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

61,028

99.5th percentile

Trials

160

Interventional, condition-specific

Researchers

1,368

Distinct authors in sample

Gene link

NTHL1

Limited

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, mostly benign, neoplastic disease characterized by a primary tumor of the meninges, usually located intracranially (~90%) but spinal meningiomas occur as well. Clinical symptoms relate to the location of the tumor and may include , focal neurological deficits (sensory-motor or visual symptoms, cranial nerve dysfunction), vascular complications (occlusion of cerebral blood vessels, deep venous thrombosis, pulmonary embolism), chronically increased intracranial pressure neurocognitive impairment and/or loss of bladder/anus sphincter control.

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 (2)

meningioma · meningioma (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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Limited — NTHL1

  2. LiteraturePresent

    61,028 matched papers (29,842 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

    160 matched on ClinicalTrials.gov (63 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?

Possibly — only limited evidence so far for NTHL1.

GenCC classification: Limited.

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?

61,028

61,028 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.

61,028 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).

29,842 in the last 10 years · medium confidence · 99.5th percentile (publications denominator)

Phrase hits: 61,028 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,368

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
    Raleigh DR6 papers · 2026

    From the Department of Radiology & Biomedical Imaging (T.J.Y., T.L., E.C.), Neurological Surgery (J.E.V.-M.), University of California San Francisco, San Francisco, CA; Department of Radiation Oncology (A.C., D.R.R.), Department of Neurological Surgery, Radiation Oncology (W.C.C.), University of California San Francisco, San Francisco, CA; Department of Neurosurgery (M.W.M.), Miami Cancer Institute, Baptist Health South Florida, Miami, FL and Department of Neurosurgery (S.T.M.), Northwestern University, Feinberg School of Medicine, Chicago, IL.

    Papers in Europe PMC
  2. 02
    Zhang J5 papers · 2026

    GE HealthCare, MR Research, Beijing, China.

    Papers in Europe PMC
  3. 03
    Choudhury A4 papers · 2026

    From the Department of Radiology & Biomedical Imaging (T.J.Y., T.L., E.C.), Neurological Surgery (J.E.V.-M.), University of California San Francisco, San Francisco, CA; Department of Radiation Oncology (A.C., D.R.R.), Department of Neurological Surgery, Radiation Oncology (W.C.C.), University of California San Francisco, San Francisco, CA; Department of Neurosurgery (M.W.M.), Miami Cancer Institute, Baptist Health South Florida, Miami, FL and Department of Neurosurgery (S.T.M.), Northwestern University, Feinberg School of Medicine, Chicago, IL.

    Papers in Europe PMC
  4. 04
    Liu J4 papers · 2026

    MacFeeters Hamilton Neuro-Oncology Program, Princess Margaret Cancer Centre, University Health Network and University of Toronto, Toronto, ON, Canada; Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.

    Papers in Europe PMC
  5. 05
    McDermott MW4 papers · 2026

    From the Department of Radiology & Biomedical Imaging (T.J.Y., T.L., E.C.), Neurological Surgery (J.E.V.-M.), University of California San Francisco, San Francisco, CA; Department of Radiation Oncology (A.C., D.R.R.), Department of Neurological Surgery, Radiation Oncology (W.C.C.), University of California San Francisco, San Francisco, CA; Department of Neurosurgery (M.W.M.), Miami Cancer Institute, Baptist Health South Florida, Miami, FL and Department of Neurosurgery (S.T.M.), Northwestern University, Feinberg School of Medicine, Chicago, IL.

    Papers in Europe PMC
  6. 06
    Wang X4 papers · 2026

    Department of Neurosurgery, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China. xiefeng@njmu.edu.cn.

    Papers in Europe PMC
  7. 07
    Wang Z4 papers · 2026

    Department of Pathology, The First Hospital of China Medical University, Shenyang, PR China.

    Papers in Europe PMC
  8. 08
    Ajisebutu A3 papers · 2026

    MacFeeters Hamilton Neuro-Oncology Program, Princess Margaret Cancer Centre, University Health Network and University of Toronto, Toronto, ON, Canada; Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.

    Papers in Europe PMC
  9. 09
    Aldape K3 papers · 2026

    Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.

    Papers in Europe PMC
  10. 10
    Cheng X3 papers · 2026

    Department of Neurosurgery, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

160

interventional trials for this specific condition

160 interventional trials matched this specific condition name; 63 currently recruiting in our sample.

Data as of 27 July 2026

160 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 99.1th percentile).

medium confidence · 99.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

54 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

This 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.

"Meningioma" OR "meningioma (disease)"

Run this search on Europe PMC

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

"Meningioma" OR "meningioma (disease)" OR "NTHL1"

Recall-expansion terms: NTHL1

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: 160 interventional · 54 observational · 1 expanded access. Only interventional studies enter the trial headline.

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

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 2026-07-26T20:20:42.270Z