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Article

Effectiveness of Elexacaftor/Tezacaftor/Ivacaftor Therapy in Three Subjects with the Cystic Fibrosis Genotype Phe508del/Unknown and Advanced Lung Disease

1
Cystic Fibrosis Regional Reference Center, Department of Paediatric Medicine, Anna Meyer Children’s University, 50139 Florence, Italy
2
Cystic Fibrosis Center, AOR Ospedale San Carlo, 19104 Potenza, Italy
3
Infectious and Tropical Diseases Unit, Azienda Ospedaliero-Universitaria Careggi, 50134 Florence, Italy
4
Department of Molecular Medicine and Medical Biotechnology, University of Naples, 20122 Naples, Italy
5
CEINGE—Advanced Biotechnology, 20122 Naples, Italy
*
Author to whom correspondence should be addressed.
Academic Editors: Michele Cioffi and Maria Teresa Vietri
Genes 2021, 12(8), 1178; https://doi.org/10.3390/genes12081178
Received: 6 July 2021 / Revised: 26 July 2021 / Accepted: 28 July 2021 / Published: 29 July 2021
(This article belongs to the Special Issue Genotype-Phenotype Study in Disease)
We evaluated the effectiveness and safety of elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) in three subjects carrying the Phe508del/unknown CFTR genotype. An ex vivo analysis on nasal epithelial cells (NEC) indicated a significant improvement of CFTR gating activity after the treatment. Three patients were enrolled in an ELX/TEZ/IVA managed-access program, including subjects with the highest percent predicted Forced Expiratory Volume in the 1st second (ppFEV1) < 40 in the preceding 3 months. Data were collected at baseline and after 8, 12 and 24 weeks of follow-up during treatment. All patients showed a considerable decrease of sweat chloride (i.e., meanly about 60 mmol/L as compared to baseline), relevant improvement of ppFEV1 (i.e., >8) and six-minute walk test, and an increase in body mass index after the first 8 weeks of treatment. No pulmonary exacerbations occurred during the 24 weeks of treatment and all domains of the CF Questionnaire-Revised improved. No safety concerns related to the treatment occurred. This study demonstrates the benefit from the ELX/TEZ/IVA treatment in patients with CF with the Phe508del and one unidentified CFTR variant. The preliminary ex vivo analysis of the drug response on NEC helps to predict the in vivo therapeutic endpoints. View Full-Text
Keywords: elexacaftor/tezacaftor/ivacaftor; cystic fibrosis; CFTR; nasal brushing; sweat chloride elexacaftor/tezacaftor/ivacaftor; cystic fibrosis; CFTR; nasal brushing; sweat chloride
MDPI and ACS Style

Terlizzi, V.; Colangelo, C.; Marsicovetere, G.; D’Andria, M.; Francalanci, M.; Innocenti, D.; Masi, E.; Avarello, A.; Taccetti, G.; Amato, F.; Comegna, M.; Castaldo, G.; Salvatore, D. Effectiveness of Elexacaftor/Tezacaftor/Ivacaftor Therapy in Three Subjects with the Cystic Fibrosis Genotype Phe508del/Unknown and Advanced Lung Disease. Genes 2021, 12, 1178. https://doi.org/10.3390/genes12081178

AMA Style

Terlizzi V, Colangelo C, Marsicovetere G, D’Andria M, Francalanci M, Innocenti D, Masi E, Avarello A, Taccetti G, Amato F, Comegna M, Castaldo G, Salvatore D. Effectiveness of Elexacaftor/Tezacaftor/Ivacaftor Therapy in Three Subjects with the Cystic Fibrosis Genotype Phe508del/Unknown and Advanced Lung Disease. Genes. 2021; 12(8):1178. https://doi.org/10.3390/genes12081178

Chicago/Turabian Style

Terlizzi, Vito, Carmela Colangelo, Giovanni Marsicovetere, Michele D’Andria, Michela Francalanci, Diletta Innocenti, Eleonora Masi, Angelo Avarello, Giovanni Taccetti, Felice Amato, Marika Comegna, Giuseppe Castaldo, and Donatello Salvatore. 2021. "Effectiveness of Elexacaftor/Tezacaftor/Ivacaftor Therapy in Three Subjects with the Cystic Fibrosis Genotype Phe508del/Unknown and Advanced Lung Disease" Genes 12, no. 8: 1178. https://doi.org/10.3390/genes12081178

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