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Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5

2 Jun 2020

Abstract excerpt

Currently, there are no treatments for Alport syndrome, which is the second most commonly inherited kidney disease. Here we report the development of an exon-skipping therapy using an antisense-oligonucleotide (ASO) for severe male X-linked Alport syndrome (XLAS). We targeted truncating variants in exon 21 of the COL4A5 gene and conducted a type IV collagen α3/α4/α5 chain triple helix formation assay, and in...

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PMID: 32488001
DOI: 10.1038/s41467-020-16605-x

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