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LCA2

RPE65

Retinal pigment epithelium isomerase; essential for the visual cycle (converts all-trans-retinyl ester to 11-cis-retinol)

FDA Approved Therapy Available

Luxturna (voretigene neparvovec) — FDA approved Dec 2017, EMA approved 2018, ~$425,000 per eye

Chromosomal Locus

1p31.2

Inheritance

Autosomal Recessive

Frequency

5-10% of LCA cases

OMIM #204100

Key Clinical Features

  • 1Profound night blindness from birth
  • 2Residual cone-mediated vision in first 3 decades
  • 3Blond fundus with peripheral white deposits
  • 4FDA-approved gene therapy (Luxturna) available

Clinical Trials

Luxturna Phase 3 Pivotal Trial

Spark Therapeutics · Phase 3

Completed — FDA Approved
ClinicalTrials.gov: NCT00999609

RPE65 Gene Therapy Phase 1

Spark / CHOP · Phase 1

Completed
ClinicalTrials.gov: NCT00516477

RPE65 Gene Therapy (UCL/Moorfields, UK)

UCL / Moorfields Eye Hospital · Phase 1

Completed
ClinicalTrials.gov: NCT00643747

Luxturna Post-Marketing Patient Registry (US)

Spark / Novartis · Post-marketing

Active
ClinicalTrials.gov: NCT03597399

Sources: