Treatments

Treatments & Therapies

From the first FDA-approved gene therapy to cutting-edge CRISPR approaches, LCA treatment is at the forefront of genetic medicine.

FDA Approved (December 2017)

Luxturna (Voretigene Neparvovec)

How It Works

Uses an AAV2 vector to deliver a functional copy of the RPE65 gene directly beneath the retina via subretinal injection. Each eye is treated separately with a dose of 1.5 x 10¹¹ vector genomes.

Eligibility

Confirmed biallelic RPE65 pathogenic variants
Sufficient viable retinal cells (assessed by OCT)
Age: 12 months to 65 years

Results

~70% patients maintained visual gains at 4 years

Improvements sustained 7.5+ years in long-term follow-up

~$425,000 per eye ($850,000 for both)

Learn more on EyeWiki

Treatment Pipeline

ATSN-101 for GUCY2D (LCA1)

Phase 3 Planned

AAV gene replacement therapy by Atsena/Nippon Shinyaku. Phase 1/2 complete with 15 patients treated. Highest dose showed clinically meaningful improvements in light sensitivity and mobility. 12-month results published in The Lancet (2024).

The Lancet - 12-month data

Gene Therapy for AIPL1 (LCA4)

MAA Submission Planned

MeiraGTx rAAV8.hRKp.AIPL1 gene therapy. First-in-human study published in The Lancet (Feb 2025): all 11 children aged 1-4 gained visual acuity. No serious adverse effects. Eli Lilly collaboration for global commercialization.

The Lancet - First-in-human results

EDIT-101 CRISPR for CEP290 (LCA10)

Phase 1/2

First-ever in vivo CRISPR therapy administered to a human. Editas Medicine's EDIT-101 targets the common IVS26 intronic mutation in CEP290 using CRISPR-Cas9 delivered via AAV5 vector. BRILLIANCE trial with 14 participants has demonstrated proof of concept.

FFB - CRISPR Trial Authorization

Sepofarsen (QR-110) RNA Therapy for CEP290 (LCA10)

Phase 3

Antisense oligonucleotide therapy by Sepul Bio targeting the c.2991+1655A>G mutation in CEP290. Administered via intravitreal injection (less invasive). HYPERION Phase 3 trial initiated early 2025. Requires repeated dosing unlike one-time gene replacement.

Nature Medicine - Phase 1b/2 results

OPGx-LCA5 for Lebercilin (LCA5)

Phase 1/2

Opus Genetics AAV gene replacement at University of Pennsylvania. Phase 1/2 trial (NCT05616793) evaluating 15 adults and pediatric patients. Pivotal trial supported by FDA. Dosing anticipated H2 2026.

Opus Genetics - FDA Meeting