Study AAV2-hRPE65v2-101/102 (Phase 1):
- Title: An Open-Label, Phase 1, Dose-Escalation Study of the Safety and Tolerability of Voretigene Neparvovec in Subjects with RPE65-mediated Retinal Dystrophy.
- Objectives: To determine the safety of three escalating doses (Study 101) and of administering the high dose to the contralateral eye (Study 102).
- Design: Open-label, dose-escalation (n=12). Study 101 involved unilateral injection. Study 102 involved contralateral injection in 11 subjects 1.7 to 4.6 years later.
- Population: 12 subjects (ages 8-44) with RPE65-LCA.
- Results: The high dose (1.5 x 10^11 vg) was well-tolerated. Preliminary efficacy signals were observed in mobility testing and FST, which were durable for over 3 years.

Study AAV2-hRPE65v2-301 (Phase 3):
- Title: An Open-Label, Randomized, Controlled, Phase 3 Study of the Efficacy and Safety of Voretigene Neparvovec in Subjects with RPE65-mediated Retinal Dystrophy.
- Objectives: To evaluate the efficacy, safety, and tolerability of sequential bilateral subretinal administration of voretigene neparvovec.
- Design: Open-label, randomized (2:1), controlled with a crossover option for the control group at 1 year.
- Population: 31 subjects (ages 4-44) with confirmed biallelic RPE65 mutations.
- Results: The study met its primary endpoint, demonstrating a statistically significant (p=0.001) and clinically meaningful improvement in MLMT score at Year 1. Safety profile was consistent with the risks of the surgical procedure. The results provide substantial evidence of efficacy.