Evidence map›Paper›PMID 41492359›Full record

ArticleGenetics in medicine open2026

CFTR rescue in W1282X cystic fibrosis patient-derived intestinal organoids (PDIOs) mediated by translational readthrough-inducing drugs (TRIDs).

Riccardo Perriera, Anabela S Ramalho, Francois Vermeulen, Emanuele Vitale, Ivana Pibiri, Andrea Pace, Laura Lentini

Abstract read
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In one paragraph

Article in Genetics in medicine open, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Riccardo PerrieraDepartment of Biological, Chemical and Pharmaceutical Sciences and Technologies, University of Palermo, Palermo, Italy.
Anabela S RamalhoDepartment of Development and Regeneration, Woman and Child Unit, CF research lab, KU Leuven, Leuven, Belgium.
Francois VermeulenDepartment of Development and Regeneration, Woman and Child Unit, CF research lab, KU Leuven, Leuven, Belgium.
Emanuele VitaleDepartment of Biological, Chemical and Pharmaceutical Sciences and Technologies, University of Palermo, Palermo, Italy.
Ivana PibiriDepartment of Biological, Chemical and Pharmaceutical Sciences and Technologies, University of Palermo, Palermo, Italy.
Andrea PaceDepartment of Biological, Chemical and Pharmaceutical Sciences and Technologies, University of Palermo, Palermo, Italy.
Laura LentiniDepartment of Biological, Chemical and Pharmaceutical Sciences and Technologies, University of Palermo, Palermo, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Pathogenic variants in the cystic fibrosis transmembrane conductance regulator ( Methods: This study utilizes patient-derived intestinal organoids to evaluate the recovery of CFTR function in cells with nonsense variants. Results: Specifically, we tested 3 translational readthrough-inducing molecules: NV848, NV914, and NV930. Our studies highlighted the positive effect of NV848 on patient organoid swelling, improving CFTR channel function, whereas NV914 and NV930 did not induce organoid swelling, similar to PTC124 treatment. Conclusion: 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

Indexed as

CFTRCystic fibrosisIntestinal organoidsNonsense variantsTranslational readthrough

Identifiers

PMID41492359
PMCPMC12765443

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LicenceCC BY-NC-ND
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.