Neurotrophic keratopathy

Summary

Neurotrophic keratopathy (MONDO:0015290) is a disease and 35 clinical trials. Top therapeutic interventions include cenegermin, insulin human, and corticotropin. A subtype of eye disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 15
• Clinical trials: 35

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-5 / 10 000	4.2	Europe	Validated

Signs & symptoms

Clinical features (HPO)

15 HPO clinical features (Orphanet curated; top 15 by frequency):

HPO ID	Term	Frequency
HP:0010824	Abnormal fifth cranial nerve morphology	Very frequent (80-99%)
HP:0012155	Decreased corneal sensation	Very frequent (80-99%)
HP:0007924	Slow decrease in visual acuity	Frequent (30-79%)
HP:0000483	Astigmatism	Occasional (5-29%)
HP:0000495	Recurrent corneal erosions	Occasional (5-29%)
HP:0000559	Corneal scarring	Occasional (5-29%)
HP:0000622	Blurred vision	Occasional (5-29%)
HP:0000632	Lacrimation abnormality	Occasional (5-29%)
HP:0000819	Diabetes mellitus	Occasional (5-29%)
HP:0012040	Corneal stromal edema	Occasional (5-29%)
HP:0012122	Anterior uveitis	Occasional (5-29%)
HP:0012804	Corneal ulceration	Occasional (5-29%)
HP:0012533	Allodynia	Very rare (<1-4%)
HP:0100583	Corneal perforation	Very rare (<1-4%)
HP:0100963	Hyperesthesia	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	neurotrophic keratopathy
Mondo ID	MONDO:0015290
Orphanet	137596
ICD-11	1257534118
SNOMED CT	128080005
UMLS	C0339296
MedGen	87384
GARD	0019878
MedDRA	10069732
Is cancer (heuristic)	no

Also known as: neurotrophic keratitis

Disease family

This is a subtype of eye disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye disorder › neurotrophic keratopathy

Related subtypes (119): ptosis, eye accommodation disease, corneal disorder, asthenopia, lens disorder, keratomalacia, scleral disorder, ocular siderosis, coloboma, luxation of globe, mucopolysaccharidosis type 1, lacrimal apparatus disorder, Foster-Kennedy syndrome, anterior dislocation of lens, uveal disorder, eyelid disorder, ocular hypotension, scotoma, exophthalmos, ophthalmia nodosa, eye degenerative disorder, refractive error, glaucoma, retinal disorder, eye allergy, ocular vascular disorder, optic neuritis, conjunctival disorder, ocular hypertension, Tietz syndrome, Alagille syndrome, glaucoma-sleep apnea syndrome, Marshall syndrome, microcornea-glaucoma-absent frontal sinuses syndrome, nail-patella syndrome, oculodentodigital dysplasia, piebaldism, Sturge-Weber syndrome, cerebrotendinous xanthomatosis, ocular cystinosis, alpha-mannosidosis, megalocornea-intellectual disability syndrome, mucolipidosis type IV, mucopolysaccharidosis type 6, Netherton syndrome, galactosialidosis, Niemann-Pick disease type A, ocular motor apraxia, Cogan type, Peters plus syndrome, isolated Pierre-Robin syndrome, ectodermal dysplasia-blindness syndrome, Sandhoff disease, SHORT syndrome, Sjogren-Larsson syndrome, Smith-Lemli-Opitz syndrome, Tay-Sachs disease, tyrosinemia type II, Ito hypomelanosis, X-linked cone dysfunction syndrome with myopia, red color blindness, oculocerebrorenal syndrome, Lowry-MacLean syndrome, pigment dispersion syndrome, hereditary hyperferritinemia with congenital cataracts, dyssegmental dysplasia-glaucoma syndrome, mevalonic aciduria, familial cavitary optic disk anomaly, blindness - scoliosis - arachnodactyly syndrome, fatty acyl-CoA reductase 1 deficiency, microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Cogan syndrome, atopic keratoconjunctivitis, rhizomelic chondrodysplasia punctata, Ehlers-Danlos syndrome, kyphoscoliotic type 1, IRVAN syndrome, Rothmund-Thomson syndrome type 2, microcornea-corectopia-macular hypoplasia syndrome, isolated anophthalmia-microphthalmia syndrome, Spasmus nutans, toxic maculopathy due to antimalarial drugs, syndromic recessive X-linked ichthyosis, acute zonal occult outer retinopathy, acute annular outer retinopathy, phakomatosis pigmentovascularis, lamellar ichthyosis, idiopathic linear interstitial keratitis, chondroectodermal dysplasia with night blindness, galactosemia, GM1 gangliosidosis, Gaucher disease, visual snow syndrome, extensive peripapillary myelinated nerve fibers, IgG4-related ophthalmic disorder, global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome, vernal keratoconjunctivitis, Gardner syndrome, anterior segment dysgenesis, isolated ankyloblepharon filiforme adnatum, hereditary optic neuropathy, essential strabismus, Axenfeld anomaly, eye neoplasm, isolated blepharochalasis, punctate inner choroidopathy, eye infectious disorder, vitreous body disorder, 9q33.3q34.11 microdeletion syndrome, autoimmune/inflammatory optic neuropathy, LTBP2-related ocular dysgenesis, ocular growth disorder, ocular dysgenesis caused by defects in PAX6 regulation, choroidal neovascularization, anterior segment developmental abnormality with extraocular manifestations, congenital optic disk excavation, neuroocular syndrome, isolated angioid streaks, multiple evanescent white dot syndrome, stellate multiform amelanotic choroidopathy, macular telangiectasia

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 35.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	14
PHASE4	7
PHASE2	6
PHASE1/PHASE2	4
PHASE3	2
PHASE2/PHASE3	1
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06947850	PHASE4	ACTIVE_NOT_RECRUITING	DOMPE -MT Neurotrophic Keratitis
NCT06964269	PHASE4	RECRUITING	Use of Acthar Gel Single-Dose Pre-Filled SelfJectTM Injector in Patients With Moderate-Severe Keratitis and Autoimmune Disease
NCT07502378	PHASE4	RECRUITING	Effect of Acoltremon Ophthalmic Solution 0.003% on Signs and Symptoms of Ocular Surface Disease in Stage I Neurotrophic Keratopathy Patients With Tear Deficiency
NCT02707120	PHASE4	WITHDRAWN	Efficacy and Safety of Plasma Rich in Growth Factors (PRGF-Endoret) Eye-drops in the Treatment of Neurotrophic Keratitis
NCT04485546	PHASE4	COMPLETED	Study to Evaluate OXERVATE® in Patients With Stage 1 Neurotrophic Keratitis
NCT06331910	PHASE4	UNKNOWN	Efficacy and Safety of Topical Insulin for Neurotrophic Corneal Ulcers
NCT06411145	PHASE4	WITHDRAWN	Open-label Trial to Evaluate Efficacy and Safety of rhNGF on Corneal Thickness Via AS-OCT in Neurotrophic Keratitis
NCT05555589	PHASE3	RECRUITING	Assessment of the Safety and Efficacy of 0.1% RGN-259 Ophthalmic Solution for the Treatment of NK: SEER-2
NCT02600429	PHASE3	TERMINATED	Assessment of the Safety and Efficacy Study of RGN-259 Ophthalmic Solutions for Neurotrophic Keratopathy : SEER-1
NCT05321251	PHASE2/PHASE3	WITHDRAWN	Topical Insulin Drops for the Treatment of Neurotrophic Keratopathy.
NCT05927428	PHASE2	RECRUITING	Assessment of the Initial Efficacy and Safety of BRM424 Ophthalmic Solutions in Patients With Neurotrophic Keratitis
NCT06975748	PHASE2	RECRUITING	A Phase II Study of STSP-0902 Ophthalmic Solution in Patients With Neurotrophic Keratitis
NCT06999733	PHASE1/PHASE2	RECRUITING	A Study Comparing KB801 Verse Placebo in Patients With Stage 2 or 3 Neurotrophic Keratitis
NCT07568730	PHASE2	RECRUITING	A Multicenter, Randomized, Vehicle-Controlled, Double-Masked to Open-Label Study to Evaluate the Safety and Efficacy of Lacripep in Subjects With Neurotrophic Keratitis
NCT01756456	PHASE1/PHASE2	COMPLETED	Evaluation of Safety and Efficacy of rhNGF in Patients With Stage 2 and 3 Neurotrophic Keratitis.
NCT02227147	PHASE2	COMPLETED	Evaluation of Efficacy of 20 µg/ml rhNGF New Formulation (With Anti-oxidant) in Patients With Stage 2 and 3 NK
NCT03084861	PHASE1/PHASE2	TERMINATED	A Clinical Trial to Asses Efficacy and Safety of Cord Blood Eye Drops in Neurotrophic Keratopathy
NCT04276558	PHASE2	COMPLETED	REC 0/0559 Eye Drops for Treatment of Moderate and Severe Neurotrophic Keratitis in Adult Patients
NCT04909450	PHASE1/PHASE2	COMPLETED	Study to Evaluate the Safety and Efficacy of CSB-001 Ophthalmic Solution 0.1% in Neurotrophic Keratitis Subjects
NCT04957758	PHASE2	COMPLETED	Phase 2 Clinical Trial to Evaluate OC-01 Nasal Spray in Subjects With Neurotrophic Keratopathy
NCT06597422	PHASE1	COMPLETED	A Study of STSP-0902 Ophthalmic Solution in Healthy Subjects
NCT04604834	Not specified	RECRUITING	Autologous Platelet-rich Plasma (APRP) in the Treatment of Neurotrophic Keratopathy
NCT07073729	Not specified	NOT_YET_RECRUITING	Corneal Neurotization vs. Cenergermin for Neurotrophic Keratitis: A Pilot Study
NCT03037450	Not specified	TERMINATED	Miniinvasive Corneal Neurotization. A Pilot Study.
NCT04293549	Not specified	COMPLETED	An 8-week Follow-up to Evaluate the Renewal of Corneal Nerves Structure and Function in Patients With Neurotrophic Keratopathy Treated With Recombinant Human Nerve Growth Factor (rhNGF) Eyedrops
NCT04552730	Not specified	COMPLETED	Nerve Growth Factor for the Treatment of Cornea Disease
NCT04573647	Not specified	UNKNOWN	OCT Evaluation of Neurotrophic Ulcer Following Treatment With Oxervate
NCT04627571	Not specified	COMPLETED	Corneal Nerves After Treatment With Cenegermin
NCT04820010	Not specified	COMPLETED	Topical Insulin - Utility and Results in Neurotrophic Keratopathy in Stages 2 and 3
NCT05552261	Not specified	COMPLETED	DEFENDO Long Term Follow-up Study in Stage 1 NK Patients
NCT05566717	Not specified	UNKNOWN	An Investigator-Initiated Study to Assess the Association of Diabetic Retinopathy Severity Scale (DRSS) With Level of Decreased Corneal Sensitivity
NCT05758753	Not specified	SUSPENDED	QST for Corneal Nerve Function
NCT05809245	Not specified	TERMINATED	Corneal Neurotization as a Treatment for Neurotrophic Keratopathy
NCT06364657	Not specified	TERMINATED	Differences in Corneal Structure and Function in Patients With Sjogrens vs. Non-Sjogrens Dry Eye
NCT06412718	Not specified	UNKNOWN	Validation of Human Drugs Target of Repurposed Drugs and Novel Therapies

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CENEGERMIN	4	6
INSULIN HUMAN	4	2
CORTICOTROPIN	4	1
TIMBETASIN ACETATE	3	2
UDONITRECTAG	2	1