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ORPHA:137596

Neurotrophic keratopathy

low confidenceDisorder

Also known as: Neurotrophic keratitis

Publications

2,313

Trials

29

Interventional, condition-specific

Researchers

973

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

neurotrophic keratitis

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

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    2,313 matched papers (1,781 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

    29 matched on ClinicalTrials.gov (9 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

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?

2,313

2,313 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=5449) is 41.

2,313 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).

1,781 in the last 10 years · low confidence

Phrase hits: 2,313 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

973

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
    Borschel GH9 papers · 2026

    Division of Plastic Surgery, Indiana University School of Medicine, Indianapolis, IN.

    Papers in Europe PMC
  2. 02
    Ali A7 papers · 2026

    Department of Ophthalmology & Vision Sciences, The Hospital for Sick Children, Toronto, ON, Canada.

    Papers in Europe PMC
  3. 03
    Crabtree J5 papers · 2026

    Indiana University, Indianapolis, IN, USA

    Papers in Europe PMC
  4. 04
    Feinberg K5 papers · 2026

    Indiana University, Indianapolis, IN, USA

    Papers in Europe PMC
  5. 05
    Li Y5 papers · 2025

    Xuzhou Medical University, Xuzhou, China.

    Papers in Europe PMC
  6. 06
    Navas A5 papers · 2026

    Instituto de Oftalmología Fundación Conde de Valenciana, Mexico City, Mexico.

    Papers in Europe PMC
  7. 07
    Gurnani B4 papers · 2026

    Gomabai Netralaya and Research Centre

    Papers in Europe PMC
  8. 08
    Hussain A4 papers · 2026

    Indiana University, Indianapolis, IN, USA

    Papers in Europe PMC
  9. 09
    Mulenga C4 papers · 2025

    From the Division of Plastic Surgery (S.T., C.M., K.T., G.H.B.), Indiana University School of Medicine, Indianapolis, Indiana, USA.

    Papers in Europe PMC
  10. 10
    Ramirez-Miranda A4 papers · 2026

    Department of Cornea and Refractive Surgery, Instituto de Oftalmología "Conde de Valenciana, Mexico City, Mexico.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

29

interventional trials for this specific condition

29 interventional trials matched this specific condition name; 9 currently recruiting in our sample.

Data as of 27 July 2026

29 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 95.6th percentile).

low confidence · 95.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

11 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.

"Neurotrophic keratopathy" OR "Neurotrophic keratitis"

Run this search on Europe PMC

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

"Neurotrophic keratopathy" OR "Neurotrophic keratitis"

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: 29 interventional · 11 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
  • Publication count (2313) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T07:25:12.606Z