2. Academic Validation
  3. Durable vision improvement after a single treatment with antisense oligonucleotide sepofarsen: a case report

Durable vision improvement after a single treatment with antisense oligonucleotide sepofarsen: a case report

  • Nat Med. 2021 May;27(5):785-789. doi: 10.1038/s41591-021-01297-7.
Artur V Cideciyan 1,  Samuel G Jacobson 2,  Allen C Ho 3,  Alexandra V Garafalo 2,  Alejandro J Roman 2,  Alexander Sumaroka 2,  Arun K Krishnan 2,  Malgorzata Swider 2,  Michael R Schwartz 4,  Aniz Girach 4
Affiliations

Affiliations

  • 1 Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. [email protected].
  • 2 Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • 3 Wills Eye Hospital, Thomas Jefferson University, Philadelphia PA, USA.
  • 4 ProQR Therapeutics, Leiden, The Netherlands.
PMID: 33795869 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.

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