Durable vision improvement after a single treatment with antisense oligonucleotide sepofarsen: a case report
Artur V Cideciyan, Samuel G Jacobson, Allen C Ho, Alexandra V Garafalo, Alejandro J Roman, Alexander Sumaroka, Arun K Krishnan, Malgorzata Swider, Michael R Schwartz, Aniz Girach, Artur V Cideciyan, Samuel G Jacobson, Allen C Ho, Alexandra V Garafalo, Alejandro J Roman, Alexander Sumaroka, Arun K Krishnan, Malgorzata Swider, Michael R Schwartz, Aniz Girach
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.
Conflict of interest statement
Competing interests
M.R.S. and A.G. are employees of ProQR. All other authors have no competing interests.
Figures
Source: PubMed