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ORPHA:636

Neurofibromatosis type 1

medium confidenceDisorder

Also known as: Nonmosaic NF1 · Nonmosaic neurofibromatosis type 1 · Von Recklinghausen disease

Publications

28,661

97.8th percentile

Trials

117

Interventional, condition-specific

Researchers

1,274

Distinct authors in sample

Gene link

NF1

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (10)

NF1 · Neurofibromatosis 1 · Nf1-Microdeletion syndrome · neurofibromatosis 1 · neurofibromatosis type 1 · neurofibromatosis type i · neurofibromatosis, type 1 · nonmosaic NF1 · nonmosaic neurofibromatosis type 1 · peripheral neurofibromatosis

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 — NF1

  2. LiteraturePresent

    28,661 matched papers (13,587 in last 10 years) Source

  3. Phenotype characterisedPresent

    380 HPO annotations (e.g. Reduced social responsiveness; Multiple cafe-au-lait spots; Abnormal heart morphology) Source

  4. Animal modelPresent

    18 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    1 FDA · 3 EMA designations (none yet with FDA orphan-indication approval) — e.g. selumetinib Source

  6. Interventional trialPresent

    117 matched on ClinicalTrials.gov (23 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 (NF1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

380

Associated phenotypes · MONDO:0018975

  • Reduced social responsiveness
  • Multiple cafe-au-lait spots
  • Abnormal heart morphology
  • Memory impairment
  • Beaking of vertebral bodies T12-L3

Showing 5 of 380 — open Monarch for the full list.

Animal models (Monarch / Alliance)

18

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)

4

Designations · no FDA orphan-indication approval yet

  • EMA selumetinib (Koselugo)Treatment of neurofibromatosis type 1 · 31/07/2018 · PositiveEMA designation
  • EMA N-((R)-2,3-dihydroxypropoxyl)-3,4-difluro-2-(2-fluoro-4-iodo-phenylamino)-benzamide (Ezmekly)Treatment of neurofibromatosis type 1 · 25/07/2019 · PositiveEMA designation
  • EMA 2-((2-fluoro-4-iodophenyl)amino)-N-(2-hydroxyethoxy)-1-methyl-1H-pyrrolo[2,3-b]pyridine-3-carboxamideTreatment of neurofibromatosis type 1 · 22/05/2023 · PositiveEMA designation
  • FDA selumetinibNeurofibromatosis type 1 · 2018-02-14

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

32

Drugs / clinical candidates · MONDO_0018975

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

28,661

28,661 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.

28,661 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).

13,587 in the last 10 years · medium confidence · 97.8th percentile (publications denominator)

Phrase hits: 28,661 · MeSH hits: 160

Open Europe PMC search

Who's working on it?

1,274

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
    Payne JM6 papers · 2026

    Murdoch Children's Research Institute, Melbourne, Australia; Department of Pediatrics, University of Melbourne, Melbourne, Australia.

    Papers in Europe PMC
  2. 02
    Walsh KS4 papers · 2026

    Children's National Hospital, USA.

    Papers in Europe PMC
  3. 03
    Wang Z4 papers · 2026

    Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, No.639, Zhizaoju Road, Shanghai, 200011, China. shmuwzc@163.com.

    Papers in Europe PMC
  4. 04
    Yang Y4 papers · 2026

    Department of Ophthalmology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, No.1665, Kongjiang Road, Shanghai, 200092, China.

    Papers in Europe PMC
  5. 05
    Blakeley JO3 papers · 2026

    Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

    Papers in Europe PMC
  6. 06
    Ejerskov C3 papers · 2026

    Department of Pediatric and Adolescent Medicine, Centre for Rare Diseases, Aarhus University Hospital.

    Papers in Europe PMC
  7. 07
    Garg S3 papers · 2026

    Jhalawar Medical College, Rajasthan, India.

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

    Department of Medicine, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA.

    Papers in Europe PMC
  9. 09
    Gutmann DH3 papers · 2026

    Department of Neurology, Washington University, St. Louis, MO. Electronic address: gutmannd@wustl.edu.

    Papers in Europe PMC
  10. 10
    Li Y3 papers · 2026

    Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

117

interventional trials for this specific condition

117 interventional trials matched this specific condition name; 23 currently recruiting in our sample. 48 trials are registered for neurofibromatosis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

117 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.7th percentile).

medium confidence · 98.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: neurofibromatosis

48

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

58 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 14 · after dedupe 14 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 14 · 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 (14)

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 Neurofibromatosis type 1 — 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.

"Neurofibromatosis type 1" OR "Nonmosaic NF1" OR "Nonmosaic neurofibromatosis type 1" OR "Von Recklinghausen disease" OR "Neurofibromatosis 1" OR "Nf1-Microdeletion syndrome" OR "neurofibromatosis type i" OR "neurofibromatosis, type 1" OR "peripheral neurofibromatosis"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Neurofibromatosis 1

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

"Neurofibromatosis type 1" OR "Nonmosaic NF1" OR "Nonmosaic neurofibromatosis type 1" OR "Von Recklinghausen disease" OR "Neurofibromatosis 1" OR "Nf1-Microdeletion syndrome" OR "neurofibromatosis type i" OR "neurofibromatosis, type 1" OR "peripheral neurofibromatosis"

Interventional trials matched via: both, 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: 117 interventional · 58 observational · 2 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"neurofibromatosis"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: NF1

Confidence reasoning

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

Ingested 2026-07-26T14:39:17.742Z