A mutation-agnostic and allele-specific ASO strategy demonstrates potent functional rescue and retinal preservation in RHO-linked retinitis pigmentosa
Salome Spaag, Wen-Hsuan Wu, Justin Yun, Aykut DemirkoliD, Thomas WinogrodzkiiD, Anders Steen KnudseniD, Georgy Komissarov, Chyuan‐Sheng LiniD, Melita KaltakiD, Maddalena Fuso, Kaushambee J DaveiD, Katarína ŠtingliD, Angela ArmentoiD, Laura KuehleweiniD, Britta Baumann, Carmen AyusoiD, Lidia Fernández‐CaballeroiD, Rob W.J. ColliniD, Femke Bukkems, Susanne RoosingiD, Zelia CorradiiD, Sandro BanfiiD, Francesca SimonelliiD, Clemens LochmanniD, Marianthi KaraliiD, , Pietro De AngeliiD
Abstract
Autosomal dominant retinitis pigmentosa (adRP) caused by RHO mutations is a leading form of inherited retinal degeneration. Extensive allelic heterogeneity of RHO pathogenic variants limits the translational applicability of mutation-specific gene therapies. To address this, we developed SNARE (SNP-guided Silencing of Aberrant RHO Expression), a mutation-independent, allele-specific antisense oligonucleotide (ASO) strategy. SNARE selectively suppresses mutant RHO transcripts by targeting the common, benign c.-26A/G single-nucleotide polymorphism (SNP) as an allelic discriminator. Candidate gapmer ASOs were screened in engineered reporter lines and validated in patient-derived retinal organoids, identifying RHOligo-A as the lead c.-26A-targeting candidate. In vitro, RHOligo-A achieved robust, preferential knockdown of the target allele, improving RHO localization in retinal organoids, and demonstrated a favorable safety profile with minimal transcriptomic off-target effects and no detectable immunostimulatory activity. Subsequent validation in a novel, humanized RHOP347L/WT mouse model, achieved sustained c.-26A-linked allele-selective suppression, retinal structure preservation, and significantly restored visual function, upon a single intravitreal administration. These findings establish RHOligo-A and SNARE as a scalable, mutation-independent therapeutic platform with strong translational potential and substantial clinical reach for RHO-associated adRP.
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