CFTR rescue in W1282X cystic fibrosis patient-derived intestinal organoids (PDIOs) mediated by translational readthrough-inducing drugs (TRIDs)
In conclusion, this study highlights the potential of translational readthrough-inducing molecules to restore CFTR function in cells with nonsense variants. By leveraging patient-derived intestinal organoids, our findings showed that NV848, in combination with Elexacaftor-Tezacaftor-Ivacaftor and the nonsense-mediated mRNA decay inhibitor NMDI14, enhances CFTR activity. This contributes to the development of personalized therapies for individuals with rare <i>CFTR</i> variants, addressing a critical unmet need in cystic fibrosis treatment.
Authors
- F. Vermeulen (ORCID: https://orcid.org/0000-0003-2303-2470)
- Ivana Pibiri (ORCID: https://orcid.org/0000-0001-5885-164X)
- Riccardo Perriera (ORCID: https://orcid.org/0000-0003-1127-0391)
- Laura Lentini (ORCID: https://orcid.org/0000-0002-1355-8252)
- Andrea Pace
- Anabela S. Ramalho (ORCID: https://orcid.org/0000-0002-6480-8725)
- Emanuele Vitale (ORCID: https://orcid.org/0009-0000-0130-6878)
Institutions
- Universitair Ziekenhuis Leuven (BE)
- Istituto Mediterraneo per i Trapianti e Terapie ad Alta Specializzazione (IT)
- University of Palermo (IT)
- KU Leuven (BE)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-11-20
- DOI
- https://doi.org/10.1016/j.gimo.2025.103472
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- European Commission
- Università degli Studi di Palermo
- Fondazione per la Ricerca sulla Fibrosi Cistica