Leber Congenital Amaurosis
Recent clinical, regulatory, research and industry developments relating to this disease.
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What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
- 2 clinical trials expected to report results, the earliest in Q1 2027.
- Q1 2027A Phase 1/2 Study to Assess the Safety and Efficacy of OCU400 for Retinitis Pigmentosa Associated With NR2E3 and RHO Mutations and Leber Congenital Amaurosis With Mutation(s) in CEP290 Gene
- Q4 2027A Double-Masked, Randomized, Placebo-Controlled, Paired-Eye Study to Evaluate the Efficacy, Safety and Tolerability of Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Due to the c.2991+1655A>G (p.Cys998X) Mutation in the CEP290 Gene
Clinical MilestonesViewHide
- 2026-06-25A Double-Masked, Randomized, Placebo-Controlled, Paired-Eye Study to Evaluate the Efficacy, Safety and Tolerability of Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Due to the c.2991+1655A>G (p.Cys998X) Mutation in the CEP290 GeneResults expected Q4 2027
- 2025-08-06A Phase 1/2 Study to Assess the Safety and Efficacy of OCU400 for Retinitis Pigmentosa Associated With NR2E3 and RHO Mutations and Leber Congenital Amaurosis With Mutation(s) in CEP290 GeneResults expected Q1 2027
- 2026-06-25ClinicalA Double-Masked, Randomized, Placebo-Controlled, Paired-Eye Study to Evaluate the Efficacy, Safety and Tolerability of Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Due to the c.2991+1655A>G (p.Cys998X) Mutation in the CEP290 GeneResults expected Q4 2027
- 2025-08-06ClinicalA Phase 1/2 Study to Assess the Safety and Efficacy of OCU400 for Retinitis Pigmentosa Associated With NR2E3 and RHO Mutations and Leber Congenital Amaurosis With Mutation(s) in CEP290 GeneResults expected Q1 2027
Clinical trials
The current development programme across all trial phases.
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
Major themes8
- CRISPR-Associated Protein 91
- CRISPR-Cas Systems1
- Francisella1
- Gene Editing1
- Leber Congenital Amaurosis1
- Mutation1
- Retinal Dystrophies1
- Retinitis Pigmentosa1
Leading journals3
- Archives of ophthalmology (Chicago, Ill. : 1960)1
- Clinical & experimental ophthalmology1
- Nature communications1
Leading researchers8
- Acharya S1
- Afzal C1
- Agrawal T1
- Aich M1
- Aleman TS1
- Ansari AH1
- Boye SL1
- Byrne BJ1
Affiliations (unnormalised)6
- Academy of Scientific & Innovative Research (AcSIR)1
- Center for Ocular Regeneration1
- CSIR-Institute of Genomics & Integrative Biology1
- Graduate School of Engineering1
- Graduate School of Science1
- Inamori Research Institute for Science1
Reference
Authoritative identity, definition & identifiers.
A rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be confused with LEBER HEREDITARY OPTIC NEUROPATHY, the disease is thought to be caused by abnormal development of PHOTORECEPTOR CELLS in the RETINA, or by the extremely premature degeneration of retinal cells.
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
- Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
- Related entities are derived from literature co-mention (studied together) — associative, not causal.