{Reference Type}: Case Reports
{Title}: Durable vision improvement after a single treatment with antisense oligonucleotide sepofarsen: a case report.
{Author}: Cideciyan AV;Jacobson SG;Ho AC;Garafalo AV;Roman AJ;Sumaroka A;Krishnan AK;Swider M;Schwartz MR;Girach A;
{Journal}: Nat Med
{Volume}: 27
{Issue}: 5
{Year}: 05 2021
{Factor}: 87.241
{DOI}: 10.1038/s41591-021-01297-7
{Abstract}: 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.