Elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis and rare mutations.
Autor: | Fainardi V; Department of Medicine and Surgery, Cystic Fibrosis Unit, Pediatric Clinic, Parma, Italy., Cresta F; UOSD Centro Fibrosi Cistica, IRCCS Istituto Giannina Gaslini, Genova, Italy., Sorio C; Cystic Fibrosis Laboratory D. Lissandrini, Department of Medicine, Division of General Pathology, University of Verona, Verona, Italy., Melotti P; Cystic Fibrosis Centre, Azienda Ospedaliera Universitaria Integrata Verona, Verona, Italy., Pesce E; IRCCS Istituto Giannina Gaslini, UOC Genetica Medica, Genova, Italy., Deolmi M; Cystic Fibrosis Unit, Pediatric Clinics, University Hospital of Parma, Parma, Italy., Longo F; Department of Medicine and Surgery, Respiratory Disease and Lung Function Unit, Parma, Italy., Karina K; Cystic Fibrosis Laboratory D. Lissandrini, Department of Medicine, Division of General Pathology, University of Verona, Verona, Italy., Esposito S; Department of Medicine and Surgery, Cystic Fibrosis Unit, Pediatric Clinic, Parma, Italy., Pisi G; Cystic Fibrosis Unit, Pediatric Clinics, University Hospital of Parma, Parma, Italy. |
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Jazyk: | angličtina |
Zdroj: | Pediatric pulmonology [Pediatr Pulmonol] 2024 Dec; Vol. 59 (12), pp. 3383-3390. Date of Electronic Publication: 2024 Aug 30. |
DOI: | 10.1002/ppul.27211 |
Abstrakt: | Introduction: The triple combination of elexacaftor/tezacaftor/ivacaftor (ETI) has dramatically improved the outcome of people with Cystic Fibrosis (pwCF) with at least one F508del mutation. However, carriers of rare cystic fibrosis transmembrane conductance regulator (CFTR) variants are not candidates for this innovative treatment. Methods: In this observational study, we report the results of the compassionate use of ETI in 10 pwCF carriers of rare mutations after 2 months of treatment. Rectal organoids and short-term cultures of nasal epithelium obtained from rectal suction biopsies and nasal brushing were obtained from four subjects. Results: After 2 months of ETI, all patients (4 males, mean age 30.1 ± 13.3 years) showed a significant increase of FEV Conclusions: Despite the limited number of cases, our results support the use of CFTR modulators in patients with rare CFTR variants that are not currently approved for ETI in Europe. (© 2024 Wiley Periodicals LLC.) |
Databáze: | MEDLINE |
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