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ORPHA:637

Full NF2-related schwannomatosis

medium confidenceDisorder

Also known as: Full NF2 · Full neurofibromatosis type 2 · Nonmosaic NF2-related schwannomatosis · Nonmosaic neurofibromatosis type 2

Publications

13,453

96.3th percentile

Trials

36

Interventional, condition-specific

Researchers

1,161

Distinct authors in sample

Gene link

NF2

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare inherited cancer-predisposing syndrome disorder characterized by the development of multiple schwannomas, meningiomas and ependymoma. Schwannomas typically affect both vestibular nerves but also other cranial and peripheral nerves, leading to tinnitus, hearing loss and balance dysfunction. Intradermal schwannomas and ocular involvement (cataract, retinal hamartoma) are also typical.

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 (11)

NF2 · NF2-related schwannomatosis · SWNV · bilateral acoustic neurofibromatosis · central neurofibromatosis · full NF2 · full neurofibromatosis type 2 · neurofibromatosis 2 · neurofibromatosis type 2 · nonmosaic NF2-related schwannomatosis · nonmosaic neurofibromatosis type 2

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 — NF2

  2. LiteraturePresent

    13,453 matched papers (7,616 in last 10 years) Source

  3. Phenotype characterisedPresent

    76 HPO annotations (e.g. Meningioma; Hyperesthesia; Sensory neuropathy) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationPresent

    1 FDA · 2 EMA designations (1 FDA orphan-indication approval) — e.g. bortezomib Source

  6. Interventional trialPresent

    36 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 (NF2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

76

Associated phenotypes · MONDO:0007039

  • Meningioma
  • Hyperesthesia
  • Sensory neuropathy
  • Hyperpigmentation of the skin
  • Polyneuropathy

Showing 5 of 76 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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)

3

Designations · 1 with FDA orphan-indication approval

  • FDA bortezomibNeurofibromatosis Type 2 · 2016-07-05 · Not FDA Approved for Orphan Indication
  • EMA N-Hydroxy-4-(3-methyl-2-(S)-phenyl-butyrylamino) benzamideTreatment of neurofibromatosis type 2 · 26/04/2012 · PositiveEMA designation
  • EMA 4-(4-(2-(Diethylamino)ethoxy)phenyl)-1-(4-methoxybenzyl)-1H-1,2,3-triazol-5-amineTreatment of neurofibromatosis type 2 · 13/12/2024 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

9

Drugs / clinical candidates · MONDO_0007039

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

13,453

13,453 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.

13,453 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).

7,616 in the last 10 years · medium confidence · 96.3th percentile (publications denominator)

Phrase hits: 13,453 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,161

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
    Plotkin SR14 papers · 2026

    Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.

    Papers in Europe PMC
  2. 02
    Evans DG13 papers · 2026

    Director, Neurofibromatosis Clinic, Manchester University Hospitals;, Foundation NHS Trust Regional Genetic Service, St Mary's Hospital, Manchester, United Kingdom

    Papers in Europe PMC
  3. 03
    Kalamarides M11 papers · 2026

    Sorbonne Université, AP-HP, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Hôpitaux Universitaires La Pitié Salpêtrière - Charles Foix, Service de Neurochirurgie, Paris, France.

    Papers in Europe PMC
  4. 04
    Blakeley JO8 papers · 2026

    Johns Hopkins University, Baltimore, Maryland, USA.

    Papers in Europe PMC
  5. 05
    Peyre M8 papers · 2026

    Department of Neurosurgery, Bâtiment Babinski, Groupe Hospitalier Pitié-Salpêtrière, APHP, Sorbonne Universités, 47-83 boulevard de l'Hôpital, 75013, Paris, France. matthieu.peyre@aphp.fr.

    Papers in Europe PMC
  6. 06
    Welling DB7 papers · 2026

    Department of Otolargynology, Massachusetts Eye and Ear, Boston, MA, USA.

    Papers in Europe PMC
  7. 07
    Carlson ML6 papers · 2026

    Department of Otolaryngology-Head and Neck Surgery, Mayo Clinic, MN.

    Papers in Europe PMC
  8. 08
    Tamura R6 papers · 2026

    Department of Neurosurgery, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-Ku, Tokyo, 160-8582, Japan. moltobello-r-610@keio.jp.

    Papers in Europe PMC
  9. 09
    Clapp DW5 papers · 2026

    Department of Pediatrics, Herman B Wells Center for Pediatric Research Department of Biochemistry, Indiana University School of Medicine, Indianapolis, IN, USA.

    Papers in Europe PMC
  10. 10
    Fernandez-Valle C5 papers · 2026

    Burnett School of Biomedical Sciences, University of Central Florida, Orlando, FL, USA. cfv@ucf.edu.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

36

interventional trials for this specific condition

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

Data as of 11 September 2026

36 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 96.4th percentile).

medium confidence · 96.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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 (3)

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 Full NF2-related schwannomatosis — check Associations / patient organisations on that page.

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.

"Full NF2-related schwannomatosis" OR "Full NF2" OR "Full neurofibromatosis type 2" OR "Nonmosaic NF2-related schwannomatosis" OR "Nonmosaic neurofibromatosis type 2" OR "NF2-related schwannomatosis" OR "bilateral acoustic neurofibromatosis" OR "central neurofibromatosis" OR "neurofibromatosis 2" OR "neurofibromatosis type 2"

Run this search on Europe PMC

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

"Full NF2-related schwannomatosis" OR "Full NF2" OR "Full neurofibromatosis type 2" OR "Nonmosaic NF2-related schwannomatosis" OR "Nonmosaic neurofibromatosis type 2" OR "NF2-related schwannomatosis" OR "bilateral acoustic neurofibromatosis" OR "central neurofibromatosis" OR "neurofibromatosis 2" OR "neurofibromatosis type 2"

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: 36 interventional · 7 observational · 1 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: NF2; SWNV

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T14:39:17.769Z