- •Treatment with CFTR modulators is ineffective for patients carrying nonsense mutations introducing a premature termination codon (PTC).
- •The best-characterized drugs active against PTCs are aminoglycoside antibiotics, including ELX-02, previously referred to as NB-124.
- •ELX-02 induced a significant enhancement of mRNA level and protein function of S1196X and S466X CFTR variants.
- •The S1196X and S466X CFTR variants provide a favorable "U UGA C" genetic context for stabilization of CFTR transcript and their readthrough by ELX-02.
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Published online: November 15, 2022
Accepted: October 24, 2022
Received in revised form: September 22, 2022
Received: July 2, 2022
Publication stageIn Press Corrected Proof
© 2022 Published by Elsevier B.V. on behalf of European Cystic Fibrosis Society.