1. Restoration of Cone Sensitivity to Individuals with Congenital Photoreceptor Blindness within the Phase 1/2 Sepofarsen Trial
- Author
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Cideciyan, Artur V., Jacobson, Samuel G., Ho, Allen C., Krishnan, Arun K., Roman, Alejandro J., Garafalo, Alexandra V., Wu, Vivian, Swider, Malgorzata, Sumaroka, Alexander, Van Cauwenbergh, Caroline, Russell, Stephen R., Drack, Arlene V., Leroy, Bart, Schwartz, Michael R., and Girach, Aniz
- Subjects
Medicine and Health Sciences ,General Earth and Planetary Sciences ,General Medicine ,General Environmental Science - Abstract
To understand consequences of reconstituting cone photoreceptor function in congenital binocular blindness resulting from mutations in thePhase 1b/2 open-label, multicenter, multiple-dose, dose-escalation trial.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.Participants received a single intravitreal injection of sepofarsen (160 or 320 μg) into the study eye.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.All 5 participants with LP vision demonstrated severely abnormal FST and TPLR findings. At baseline, FST threshold estimates were 0.81 and 1.0 log cd/mBy subjective and objective evidence, intravitreal sepofarsen provides improvement of light sensitivity for individuals with LP vision. However, translation of increased light sensitivity to improved spatial vision may occur preferentially in those with a history of visual experience during early neurodevelopment. Interventions for congenital lack of spatial vision in
- Published
- 2022