The response of rare CFTR mutations to specific modulator combinations
Our results support that CFTR function measurements in patient-derived intestinal organoids carrying rare CFTR alleles can detect potential responders to modulator treatment and serve as the basis for drug approval by health providers. Furthermore, this approach allows for patient-specific optimisation of modulator combinations, minimising unnecessary exposure to ineffective treatments.
Authors
- Ronen Bar‐Yoseph (ORCID: https://orcid.org/0000-0002-0055-5415)
- Eitan Kerem (ORCID: https://orcid.org/0000-0002-4635-386X)
- Michal Shteinberg (ORCID: https://orcid.org/0000-0002-0432-3398)
- Jeffrey M. Beekman (ORCID: https://orcid.org/0000-0003-4886-3756)
- Aryeh Weiss
- Michal Gur (ORCID: https://orcid.org/0000-0002-9874-7617)
- Liron Birimberg‐Schwartz (ORCID: https://orcid.org/0000-0001-9014-3686)
- Л. М. Певзнер (ORCID: https://orcid.org/0000-0002-1678-2524)
- Batsheva Kerem (ORCID: https://orcid.org/0000-0001-5722-0379)
- Michael Wilschanski (ORCID: https://orcid.org/0000-0002-6223-5185)
- Noemie Stanleigh (ORCID: https://orcid.org/0000-0001-9526-2246)
- Myriam Grunewald (ORCID: https://orcid.org/0000-0001-5394-9218)
- Deborah Duran
- Naama Sebbag-Sznajder
Institutions
- Bar-Ilan University (IL)
- Technion – Israel Institute of Technology (IL)
- Utrecht University (NL)
- Hebrew University of Jerusalem (IL)
- Hadassah Medical Center (IL)
- Rambam Health Care Campus (IL)
- University Medical Center Utrecht (NL)
- Carmel Medical Center (IL)
- Wilhelmina Children's Hospital (NL)
Publication Details
- Journal
- ERJ Open Research
- Published
- 2025-03-13
- DOI
- https://doi.org/10.1183/23120541.01308-2024
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Cystic Fibrosis Foundation
- Hebrew University of Jerusalem