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limbal stem cell deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

limbal stem cell deficiency

MONDO:0025667

Find Clinical TrialsTrials

Overview

TreatmentsNo approved treatments · 2 in pipeline

Clinical Trials6 registered · 5 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Photophobia, Lacrimation abnormality, Blepharospasm, and Reduced visual acuity and others; and sometimes findings: Keratitis, Corneal scarring, Opacification of the corneal epithelium, and Generalized opacification of the cornea and others. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	10	Decreased corneal reflex, Conjunctival hyperemia, Ocular pain

Diagnosis

Biomarker and diagnostic research for limbal stem cell deficiency has been reported in the published literature.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for limbal stem cell deficiency. An additional 2 compounds hold orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for limbal stem cell deficiency, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for limbal stem cell deficiency. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor

Prognosis

Phenotype severity distribution: 8 common features.

Estimated prevalence: 1-5 in 10,000 (Uncommon).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

6 clinical trials registered, 5 recruiting. Interventions under study include other interventions, procedural interventions, and biologic therapy. Pipeline includes 1 PHASE1, 2 NA. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT06412718](https://clinicaltrials.gov/study/NCT06412718)

Data assembled from 6 of 12 sources · Last updated Oct 3, 2026, 8:10 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:171673

GARD

Genetic and Rare Diseases Info Center

GARD:20123

Questions for Your Care Team

→Are any of the 6 active clinical trials a good fit for my situation?
→What is the current development status of allogeneic ABCB5-positive limbal stem cells, and when might it become available?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Research Type	Count	% of Total
Research summaries	48	38%
Laboratory research	27	21%
Clinical study results	17	13%
Patient case studies	16	13%
Disease patterns and progression	8	6%
New treatment approaches	8	6%
Testing and diagnosis research	3	2%
Other research	1	1%

Kisho

limbal stem cell deficiency

Overview

Clinical Presentation

Diagnosis

Treatment

Orphan Drug Designations

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Clinical Trials

Recent Publications

Latest News & Developments

An eye drug biotech banks $118M and stocks its executive suite

limbal stem cell deficiency

Overview

Clinical Presentation

Diagnosis

Treatment

Orphan Drug Designations

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Clinical Trials

Recent Publications

Latest News & Developments

An eye drug biotech banks $118M and stocks its executive suite