Genetically-Caused Blindness Reversed with Single Injection of Antisense Therapeutic

Abstract

Clinical OMICsVol. 8, No. 3 NewsFree AccessGenetically-Caused Blindness Reversed with Single Injection of Antisense TherapeuticPublished Online:18 Jun 2021https://doi.org/10.1089/clinomi.08.03.04AboutSectionsPDF/EPUB ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions Back To Publication ShareShare onFacebookTwitterLinked InRedditEmail A patient with a genetic form of childhood blindness gained vision for more than a year after receiving a single injection of an experimental antisense oligonucleotide, sepofarsen, into the eye.The clinical trial was conducted by researchers at the University of Pennsylvania. According to their study, which appeared in Nature Medicine, the treatment led to marked changes at the fovea, the most important locus of human central vision.Almost a dozen antisense treatments have been approved by the FDA to date. Almost all of these are for orphan diseases, including the drug used in this study. It targets Leber congenital amaurosis (LCA), but is specifically designed for LCA patients with the CEP290 mutation – one of the more commonly implicated gene variants. Patients with this form of LCA suffer from severe visual impairment, typically beginning in infancy.In an international clinical trial led by Penn Medicine researchers Artur Cideciyan, Ph.D., and Samuel Jacobson, M.D., Ph.D., participants received an intraocular injection of sepofarsen. This oligonucleotide works by increasing normal CEP290 protein levels in the eye's photoreceptors.In a previous study, Cideciyan, Jacobson, and collaborators found that injections of sepofarsen every three months resulted in continued vision gains in ten patients.The eleventh patient, whose results are reported in this study, had only one injection and was examined over a 15-month period. Prior to treatment, the patient had reduced visual acuity, small visual fields, and no night vision.After a single injection, more than a dozen measurements of visual function and retinal structure showed large improvements supporting a biological effect from the treatment, which were retained at month 15. The patient's vision reached a peak effect after month two.FiguresReferencesRelatedDetails Volume 8Issue 3May 2021 InformationCopyright © GEN PublishingTo cite this article:Clinical OMICs.May 2021.5-5.http://doi.org/10.1089/clinomi.08.03.04Published in Volume: 8 Issue 3: June 18, 2021PDF download