A 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

What this Trial Is About

Researchers are evaluating the effects of Sepofarsen in people with Leber Congenital Amaurosis type 10 (LCA10) due to a specific mutation in the CEP290 gene. This phase 3 study is designed to assess the safety, tolerability, and effectiveness of Sepofarsen compared to placebo in subjects with this genetic cause of vision loss. The study is double-masked and randomized, meaning both participants and researchers do not know which eye receives the treatment or placebo during the first year. Participants will receive Sepofarsen by intravitreal injection in one eye and placebo in the other eye at the start and again at month 6. In the second year, the eye initially treated with Sepofarsen continues to receive it every 6 months, while the eye initially receiving placebo will either continue placebo or start Sepofarsen. Doses start with 160 micrograms followed by 40 micrograms for Sepofarsen. This paired-eye design allows each participant to compare treatment effects between their two eyes. During the study, participants will undergo visual tests including measurements of best-corrected visual acuity, low luminance visual acuity, retinal sensitivity, contrast sensitivity, and patient-reported vision questionnaires. The main measure is the change in visual acuity after 12 months. Safety and tolerability will be monitored throughout. The study is expected to last up to 3 years, with results collected at regular intervals to assess the impact of Sepofarsen on vision.

Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)