ORPHA:647815
Keratitis fugax hereditaria
Also known as: KFH · Keratoendotheliitis fugax hereditaria
Publications
32
42.4th percentile
Trials
10
Interventional, condition-specific
Researchers
166
Distinct authors in sample
Gene link
NLRP3
Limited
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare ophthalmic disorder characterized by periodic inflammatory attacks of the cornea manifesting as unilateral ocular pain, conjunctival hyperemia, photophobia and epiphora lasting for 1 to 3 days, followed by blurred vision for several weeks.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007849
- MeSH:C563650
- OMIM:148200
- UMLS:C1835697
Additional Mondo synonyms (3)
keratitis fugax hereditaria · keratoendotheliitis fugax hereditaria · keratoendothelitis fugax hereditaria
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.
- Gene identifiedPresent
Limited — NLRP3
- LiteraturePresent
32 matched papers (28 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
10 matched on ClinicalTrials.gov (2 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 NLRP3.
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?
32
32 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=5449) is 41.
32 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).
28 in the last 10 years · medium confidence · 42.4th percentile (publications denominator)
Phrase hits: 32 · MeSH hits: 0
Who's working on it?
166
Distinct author names in 32 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.
- 01Kivelä TT8 papers · 2026
Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Papers in Europe PMC - 02Turunen JA7 papers · 2026
Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Folkhälsan Institute of Genetics, Biomedicum Helsinki, Helsinki, Finland. Electronic address: joni.turunen@helsinki.fi.
Papers in Europe PMC - 03Immonen AT6 papers · 2026
Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Papers in Europe PMC - 04Kawan S4 papers · 2025
Department of Ophthalmology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland; Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland.
Papers in Europe PMC - 05Majander A3 papers · 2022
Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Papers in Europe PMC - 06Moshirfar M3 papers · 2026
John A. Moran Eye Center, Department of Ophthalmology and Visual Sciences, School of Medicine, University of Utah, Salt Lake City, UT, USA.
Papers in Europe PMC - 07Repo P3 papers · 2026
Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Folkhälsan Institute of Genetics, Biomedicum Helsinki, Helsinki, Finland.
Papers in Europe PMC - 08Backlund MP2 papers · 2025
Eye Genetics Group, Folkhälsan Research Center, Helsinki, Finland.
Papers in Europe PMC - 09Järvinen RS2 papers · 2020
Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Folkhälsan Institute of Genetics, Biomedicum Helsinki, Helsinki, Finland.
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
10
interventional trials for this specific condition
10 interventional trials matched this specific condition name; 2 currently recruiting in our sample.
Data as of 27 July 2026
10 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 91.7th percentile).
medium confidence · 91.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
10 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07017517·RECRUITING·NLRP3 Inflammasome and Physical Therapy in ICU-Acquired Weakness
Conditions: Critical Illness Myopathy·Matched via recall expansion
- NCT06507280·RECRUITING·The Effects of Periodontal Therapy on Gingival Crevicular Fluid NLRP3,Caspase-1,IL-1β Levels in Children With Gingivitis
Conditions: Gingivitis·Matched via recall expansion
Observational and natural-history studies
18 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
- NCT06724133·RECRUITING·Relationship Among Oral Microbiome and NLRP3 Inflammatome and Colorectal Polyps
Conditions: Search MeSH·Matched via recall expansion
- NCT07120711·RECRUITING·EGR2 and NLRP3 Pathways in Obstructive Sleep Apnea-Related Cognitive and Mood Disorders
Conditions: Obstructive Sleep Apnea-Hypopnea Syndrome · Anxiety Disorders · Depressive Disorders·Matched via recall expansion
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 2026-07-26This 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.
"Keratitis fugax hereditaria" OR "Keratoendotheliitis fugax hereditaria" OR "keratoendothelitis fugax hereditaria"
MeSH descriptor terms unioned into the query: Keratitis Fugax Hereditaria
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Keratitis fugax hereditaria" OR "Keratoendotheliitis fugax hereditaria" OR "keratoendothelitis fugax hereditaria" OR "NLRP3"
Recall-expansion terms: NLRP3
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 10 interventional · 18 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: KFH
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 2026-07-27T19:49:06.081Z