Restoration of Cone Sensitivity to Individuals with Congenital Photoreceptor Blindness within the Phase 1/2 Sepofarsen Trial.

ABSTRACT:

Purpose

To understand consequences of reconstituting cone photoreceptor function in congenital binocular blindness resulting from mutations in the centrosomal protein 290 (CEP290) 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 measur

SUBMITTER: Cideciyan AV 

PROVIDER: S-EPMC9562351 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature