Limbal stem cell deficiency
disease diseaseOn this page
Summary
Limbal stem cell deficiency (MONDO:0025667) is a disease and 30 clinical trials. A subtype of corneal disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: 1-5 / 10 000 (Europe) [Orphanet-validated]
- Phenotypes (HPO): 15
- Clinical trials: 30
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 20 | Europe | Validated |
Signs & symptoms
Clinical features (HPO)
15 HPO clinical features (Orphanet curated; top 15 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000613 | Photophobia | Frequent (30-79%) |
| HP:0000632 | Lacrimation abnormality | Frequent (30-79%) |
| HP:0000643 | Blepharospasm | Frequent (30-79%) |
| HP:0007663 | Reduced visual acuity | Frequent (30-79%) |
| HP:0008000 | Decreased corneal reflex | Frequent (30-79%) |
| HP:0009926 | Epiphora | Frequent (30-79%) |
| HP:0030953 | Conjunctival hyperemia | Frequent (30-79%) |
| HP:0200026 | Ocular pain | Frequent (30-79%) |
| HP:0000491 | Keratitis | Occasional (5-29%) |
| HP:0000559 | Corneal scarring | Occasional (5-29%) |
| HP:0007727 | Opacification of the corneal epithelium | Occasional (5-29%) |
| HP:0011494 | Generalized opacification of the cornea | Occasional (5-29%) |
| HP:0011496 | Corneal neovascularization | Occasional (5-29%) |
| HP:0100583 | Corneal perforation | Very rare (<1-4%) |
| HP:0500008 | Cornea verticillata | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | limbal stem cell deficiency |
| Mondo ID | MONDO:0025667 |
| Orphanet | 171673 |
| UMLS | C1561989 |
| MedGen | 295775 |
| GARD | 0020123 |
| Is cancer (heuristic) | no |
Disease family
This is a subtype of corneal 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 › corneal disorder › limbal stem cell deficiency
Related subtypes (23): cornea plana, pseudopterygium, corneal deposit, Bowman’s membrane folds or rupture, corneal degeneration, corneal staphyloma, corneal argyrosis, corneal ectasia, keratopathy, keratitis, corneal edema, brittle cornea syndrome, megalocornea, X-linked corneal dermoid, Peters anomaly, pellucid marginal degeneration, keratoconus, corneal dystrophy, sclerocornea, cornea neoplasm, Arnold stickler bourne syndrome, thygeson superficial punctate keratopathy, Terrien marginal degeneration
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: 30.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 17 |
| PHASE1/PHASE2 | 6 |
| PHASE1 | 5 |
| PHASE3 | 1 |
| PHASE2 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT01489501 | PHASE3 | WITHDRAWN | Multicenter Study of CAOMECS Transplantation to Patients With Total Limbal Stem Cell Deficiency |
| NCT00736307 | PHASE1/PHASE2 | COMPLETED | Autologous Transplantation of Cultivated Limbal Stem Cells on Amniotic Membrane in Limbal Stem Cell Deficiency (LSD) Patients |
| NCT00845117 | PHASE1/PHASE2 | UNKNOWN | Cultivated Stem Cell Transplantation for the Treatment of Limbal Stem Cell Deficiency |
| NCT02318485 | PHASE2 | COMPLETED | Limbal Epithelial Stem Cell Transplantation: a Phase II Multicenter Trial |
| NCT02415218 | PHASE1/PHASE2 | COMPLETED | Transplantation of Autologous Oral Mucosal Epithelial Sheets for Limbal Stem-cell Deficiency |
| NCT02592330 | PHASE1/PHASE2 | COMPLETED | Limbal Stem Cell Deficiency (LSCD) Treatment With Cultivated Stem Cell (CALEC) Graft |
| NCT03015779 | PHASE1/PHASE2 | UNKNOWN | Transplantation of Autologous Oral Mucosal Epithelial Stem Cell Sheet for Treating Limbal Stem Cell Deficiency Disease |
| NCT03549299 | PHASE1/PHASE2 | UNKNOWN | Allogeneic ABCB5-positive Limbal Stem Cells for Treatment of LSCD |
| NCT03957954 | PHASE1 | ACTIVE_NOT_RECRUITING | Stem Cell Therapy for Limbal Stem Cell Deficiency |
| NCT06452316 | PHASE1 | RECRUITING | Study to Evaluate the Safety and Efficacy of CSB-001 Ophthalmic Solution 0.1% in Subjects With Limbal Stem Cell Deficiency |
| NCT02649621 | PHASE1 | COMPLETED | The Improvement of Limbal Stem Cell Deficiency (LSCD) in Unilateral Stem Cell Damage by Amniotic Membrane Extract Eye Drop (AMEED) |
| NCT03943797 | PHASE1 | UNKNOWN | Cultivated Autologous Oral Mucosal Epithelial Transplantation |
| NCT05909735 | PHASE1 | COMPLETED | Treatment of LSCD With DM |
| NCT01756365 | Not specified | RECRUITING | Autologous Cultured Corneal Epithelium (CECA) for the Treatment of Limbal Stem Cell Deficiency |
| NCT02149732 | Not specified | AVAILABLE | Clinical Trial on the Effect of Autologous Oral Mucosal Epithelial Sheet Transplantation |
| NCT03884569 | Not specified | NOT_YET_RECRUITING | Cultivated Limbal Epithelial Transplantation (CLET) for Limbal Stem Cell Deficiency (LSCD) |
| NCT06265298 | Not specified | RECRUITING | Implementation of a Protocol for the Transdifferentiation of Buccal Mucosal Epithelium Into Corneal Epithelium |
| NCT07119580 | Not specified | RECRUITING | Association Between Limbal Function and Tear Proteomics in Chronic Ocular Diseases: Focusing on Glaucoma |
| NCT07422389 | Not specified | AVAILABLE | BRM421 Ophthalmic Solution in Patients With Limbal Stem Cell Deficiency |
| NCT02568527 | Not specified | COMPLETED | Biodegradable Synthetic Scaffold as a Substitute for hAM in Limbal Epithelial Cells Transplant in LSCD Patients |
| NCT02579993 | Not specified | TERMINATED | ABCB5 as a Prognostic Marker in Survival of Cultivated Limbal Stem Cell Transplantation |
| NCT03217435 | Not specified | COMPLETED | Corneal Epithelial Allograft From Living-related Donor for LSCD |
| NCT03217487 | Not specified | UNKNOWN | Corneal Epithelial Autograft for LSCD |
| NCT03226015 | Not specified | COMPLETED | Autologous Oral Mucosa Transplantation for Limbal Stem Cell Deficiency |
| NCT03594370 | Not specified | COMPLETED | Multiple Noninvasive Examination Modality to Evaluate the Severity of Ocular Surface Disorders |
| NCT04021134 | Not specified | UNKNOWN | The Effects of Allogeneic SLET |
| NCT04021875 | Not specified | UNKNOWN | The Effects of Autologous SLET |
| NCT04995926 | Not specified | UNKNOWN | Labial Mucosal Epithelium Grafting for Corneal Limbus Substitution |
| NCT05461469 | Not specified | COMPLETED | CDL Validation Study |
| NCT06412718 | Not specified | UNKNOWN | Validation of Human Drugs Target of Repurposed Drugs and Novel Therapies |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.