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From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides
This study explores antisense oligonucleotide (AON) therapy to correct cryptic pre-mRNA splicing defects in Pompe disease. Pathogenic variants in the GAA gene lead to aberrant splice site activation, disrupting enzyme production. Researchers developed a splicing assay to detect defects in patient-derived fibroblasts and successfully redirected cryptic splicing back to canonical sites, improving GAA enzyme activity. This personalized approach offers a promising alternative to enzyme replacement therapy for adult-onset Pompe disease.
