Effectiveness of Elexacaftor/Tezacaftor/Ivacaftor Therapy in Three Subjects with the Cystic Fibrosis Genotype Phe508del/Unknown and Advanced Lung Disease
Abstract
:1. Introduction
2. Materials and Methods
3. Results
3.1. Clinical Characteristics of the Enrolled Patients
3.2. Outcome Measures Following Elexacaftor/Tezacaftor/Ivacaftor Treatment
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Characteristics | Baseline | After 8 Weeks | After 12 Weeks | After 24 Weeks | Baseline | After 8 Weeks | After 12 Weeks | After 24 Weeks | Baseline | After 8 Weeks | After 12 Weeks | After 24 Weeks |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Subject 1 | Subject 2 | Subject 3 | ||||||||||
Sweat chloride (mEq/L) | 110 | 26 | 46 | 46 | 103 | 40 | 34 | 31 | 85 | 48 | 30 | 29 |
ppFEV1 (%) | 26.0 | 39.0 | 44.0 | 41.0 | 25.8 | 34.2 | 34.0 | 32.0 | 29.0 | 48.9 | 53.5 | 53.6 |
BMI (Kg/m2) | 20.3 | 20.9 | 21.6 | 21.2 | 24.4 | 25.8 | 25.7 | 26.2 | 19.5 | 20.5 | 21.6 | 22.6 |
6MWT (m) | 360 | 558 | 545 | 521 | 403 | 480 | 495 | 485 | 500 | 544 | 560 | 572 |
Oxigen saturation | 84 | 89 | 96 | 98 | 75 | 78 | 81 | 91 | 82 | 89 | 93 | 95 |
Heart rate | 138 | 139 | 120 | 110 | 119 | 129 | 145 | 122 | 154 | 141 | 130 | 135 |
CFQ-R 14 + domain | ||||||||||||
Physical functioning | 16.67 | 62.50 | 62.50 | 58.33 | 25.00 | 41.67 | 100.00 | 58.33 | 12.50 | 62.50 | 75.00 | 100.00 |
Role perception | 91.67 | 91.67 | 100.00 | 91.67 | 66.67 | 83.33 | 100.00 | 83.33 | 58.33 | 83.33 | 83.33 | 100.00 |
Vitality | 41.67 | 83.33 | 83.33 | 75.00 | 25.00 | 50.00 | 83.33 | 75.00 | 25.00 | 75.00 | 75.00 | 83.33 |
Emotion | 73.33 | 100.00 | 100.00 | 93.33 | 40.00 | 46.67 | 46.67 | 66.67 | 46.67 | 66.67 | 60.00 | 73.33 |
Social perception | 72.22 | 83.33 | 88.89 | 77.78 | 22.22 | 50.00 | 38.89 | 44.44 | 50.00 | 55.56 | 77.78 | 88.89 |
Body image | 88.89 | 100.00 | 100.00 | 100.00 | 100.00 | 55.56 | 100.00 | 100.00 | 66.67 | 77.78 | 88.9 | 100.00 |
Eating disturbance | 100.00 | 100.00 | 100.00 | 100.00 | 55.56 | 55.56 | 100.00 | 66.67 | 55.56 | 100.00 | 100.00 | 100.00 |
Treatment burden | 33.33 | 44.44 | 55.56 | 55.56 | 77.78 | 77.78 | 77.78 | 77.78 | 22.22 | 55.56 | 66.67 | 77.78 |
Health perception | 55.56 | 66.67 | 66.67 | 55.56 | 66.67 | 88.89 | 88.89 | 100.00 | 11.11 | 66.67 | 66.67 | 88.89 |
Weight | 66.67 | 100.00 | 100.00 | 100.00 | 100.00 | 66.67 | 66.67 | 100.00 | 33.33 | 100.00 | 100.00 | 100.00 |
Respiratory symptoms | 44.44 | 83.33 | 83.33 | 83.33 | 50.00 | 72.22 | 83.33 | 77.78 | 44.44 | 83.33 | 83.33 | 83.33 |
Digestive symptoms | 88.89 | 100.00 | 100.00 | 88.89 | 88.89 | 77.78 | 88.89 | 77.78 | 88.89 | 100.00 | 77.78 | 100.00 |
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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
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 StyleTerlizzi, 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