Article
AAV-Mediated Base Editing for Correction of RSPH4A Mutations in Primary Ciliary Dyskinesia: A Proof-of-Concept Study.
Human gene therapy - 1 Jul 2026
De Carli Alessandro, Pastore Sara, Maj Debora, Filippini Fabio, Matteucci Matteo, Di Cicco Maria Elisa, Peroni Diego, Donzelli Gabriele, Crucitta Stefania, Zentilin Lorena, Michelucci Angela, Gabellini Chiara, Freer Giulia, Lai Michele, Pifferi Massimo, Pistello Mauro
Abstract excerpt
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder, with abnormal ciliary motility, usually due to an ultrastructural defect, with chronic airway infections. Currently, no curative therapy exists for PCD. Given the prevalence of single nucleotide variants (SNVs) among causative mutations, we evaluated a novel base-editing approach. Specifically, we used a nickase Cas9 fused to...
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