Restoration of Cone Sensitivity to Individuals with Congenital Photoreceptor Blindness within the Phase 1/2 Sepofarsen Trial
Artur V. Cideciyan, Samuel G. Jacobson, Allen C. Ho, Arun K. Krishnan, Alejandro J. Román, Alexandra V. Garafalo, Vivian Wu, Małgorzata Świder, Alexander Sumaroka, Caroline Van Cauwenbergh, Stephen R. Russell, Arlene V. Drack, Bart P. Leroy, Michael R. Schwartz, Aniz Girach
Abstract
Purpose: ) gene. Design: Phase 1b/2 open-label, multicenter, multiple-dose, dose-escalation trial. Participants: A homogeneous subgroup of 5 participants with light perception (LP) vision at the time of enrollment (age range, 15-41 years) selected for detailed analyses. Medical histories of 4 participants were consistent with congenital binocular blindness, whereas 1 participant showed evidence of spatial vision in early life that was later lost. Intervention: Participants received a single intravitreal injection of sepofarsen (160 or 320 μg) into the study eye. Main Outcome Measures: Full-field stimulus testing (FST), visual acuity (VA), and transient pupillary light reflex (TPLR) were measured at baseline and for 3 months after the injection. Results: < 0.001), whereas control eyes showed no significant change versus baseline. Specialized tests performed in 1 participant confirmed and extended the standardized results from all 5 participants. Conclusions: -associated Leber congenital amaurosis may lead to better results if performed before visual cortex maturity.