%0 Case Reports
%T Durable vision improvement after a single treatment with antisense oligonucleotide sepofarsen: a case report.
%A Cideciyan AV
%A Jacobson SG
%A Ho AC
%A Garafalo AV
%A Roman AJ
%A Sumaroka A
%A Krishnan AK
%A Swider M
%A Schwartz MR
%A Girach A
%J Nat Med
%V 27
%N 5
%D 05 2021
%M 33795869
%F 87.241
%R 10.1038/s41591-021-01297-7
%X Leber congenital amaurosis due to CEP290 ciliopathy is being explored by treatment with the antisense oligonucleotide (AON) sepofarsen. One patient who was part of a larger cohort (ClinicalTrials.gov NCT03140969 ) was studied for 15 months after a single intravitreal sepofarsen injection. Concordant measures of visual function and retinal structure reached a substantial efficacy peak near 3 months after injection. At 15 months, there was sustained efficacy, even though there was evidence of reduction from peak response. Efficacy kinetics can be explained by the balance of AON-driven new CEP290 protein synthesis and a slow natural rate of CEP290 protein degradation in human foveal cone photoreceptors.