THE FIRST RESULTS OF TARGETED THERAPY IN CHILDREN WITH CYSTIC FIBROSIS IN KAZAKHSTAN
Introduction. Cystic fibrosis (CF) is an inherited, autosomal recessive disease caused by mutations in the CFTR gene. In the last decade, the effectiveness of CF treatment has increased significantly due to the development of targeted drugs aimed at restoring the function of the CFTR protein. The highest efficacy is observed in the triple combination elexacaftor/tezacaftor/ivacaftor (Trikafta® (Vertex Pharmaceuticals, USA). In Kazakhstan, it has been used since 2023 (generic elexacaftor/tezacaftor/ivacaftor Trilexa®, Tuteur S.A.S.I.F.I.A., Buenos Aires, Argentina). There have been no previous reports on the results of using targeted therapy in patients with CF in Kazakhstan. There is very little information about the effectiveness and safety of generic forms of CFTR modulators.
Aim: to evaluate the effectiveness and safety of the generic targeted drug elexacaftor/tezacaftor/ivacaftor Trilexa® (Tuteur S.A.S.I.F.I.A., Buenos Aires, Argentina) in children and adolescents with CF in real clinical practice
Materials and methods. An observational study included five children with CF aged 11 to 17 years who were treated with the three-component targeted drug elexacaftor/tezacaftor/ivacaftor. The safety of the drug was monitored by recording adverse events and the dynamics of the levels of biochemical blood parameters. The effectiveness of elexacaftor/tezacaftor/ivacaftor was assessed after 12 months based on the results of a sweat test, anthropometric characteristics, respiratory function (FEV1), number of exacerbations and courses of antibacterial therapy.
Conclusion. Within 12 months of therapy with the combination of elexacaftor/tezacaftor/ivacaftor, positive dynamics of clinical and functional parameters and the safety of three-component targeted therapy were shown. It is necessary to expand the circle of children with CF receiving three-component targeted therapy and continue research to assess its effectiveness in Kazakhstan.
Tatyana V. Marshalkina1, https://orcid.org/0000-0001-6320-3241
Nazgul T. Zhanuzakova1, https://orcid.org/0000-0002-8474-4706
Irina Y. Mukatova2, https://orcid.org/0000-0002-5804-8643
Saltanat S. Kim3, https://orcid.org/0009-0008-5057-106X
Elena L. Amelina2,4, https://orcid.org/0000-0002-5356-9415
1. Bell S.C., Mall M.A., Gutierrez H. et al. The future of cystic fibrosis care: a global perspective. Lancet Respir. Med. 2020; 8 (1): 65–124. DOI: 10.1016/S2213-2600(19)30337-6.
2. Castellani C, Duff AJA, Bell SC et al. ECFS best practice guidelines: the 2018 revision. J Cyst Fibros. 2018 Mar;17(2):153-178. doi: 10.1016/j.jcf.2018.02.006. Epub 2018 Mar 3. PMID: 29506920
3. Dawood S.N., Rabih A.M., Niaj A., Raman A., Uprety M., Calero M.J., Villanueva M.R.B., Joshaghani N., Villa N., Badla O., Goit R., Saddik S.E., Mohammed L. Newly Discovered Cutting-Edge Triple Combination Cystic Fibrosis Therapy: A Systematic Review. Cureus. 2022 Sep 20;14(9):e29359. doi: 10.7759/cureus.29359. PMID: 36284811; PMCID: PMC9583755.
4. Derichs N. Targeting a genetic defect: cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis. Eur Respir Rev. 2013 Mar 1.22(127):58-65. DOI: 10.1183/09059180.00008412. PMID: 23457166; PMCID: PMC9487424.
5. Elexacaftor-Tezacaftor-Ivacaftor and Ivacaftor (Trikafta): CADTH Reimbursement Recommendation: Indication: For the treatment of cystic fibrosis in patients aged 2 and older who have at least one F508del mutation in the cystic fibrosis transmembrane conductance regulator gene [Internet]. Ottawa (ON): Canadian Agency for Drugs and Technologies in Health; 2023 Dec. Available from: https://www.ncbi.nlm.nih.gov/books/NBK599836/
6. Graeber S.Y., Vitzthum C., Pallenberg S.T., Naehrlich L., Stahl M., Rohrbach A., Drescher M., Minso R., Ringshausen F.C., Rueckes-Nilges C., Klajda J., Berges J., Yu Y., Scheuermann H., Hirtz S., Sommerburg O., Dittrich A.M., Tümmler B., Mall M.A. Effects of Elexacaftor/Tezacaftor/Ivacaftor Therapy on CFTR Function in Patients with Cystic Fibrosis and One or Two F508del Alleles. Am J Respir Crit Care Med. 2022 Mar 1.205(5):540-549. doi: 10.1164/rccm.202110-2249OC. PMID: 34936849.
7. Kracowckij C.A., Kagasezhew R.U. Experience with generic drug use elekcakavtor / tesakavtor / iwakavtor + iwakavtor u pazientow. Pul'monology. 2023;33(6):781-791. https://doi.org/10.18093/0869-0189-2023-33-6-781-791
8. Middleton P.G., Mall M.A., Dřevínek P. et al. Elexacaftor–tezacaftor–ivacaftor for cystic fibrosis with a single Phe508del allele. N. Engl. J. Med. 2019; 381 (19): 1809–1819. DOI: 10.1056/NEJMoa1908639
9. Mukatova I., Amelina E., Syzdykova A., Kim S., Ramankul A., Mukanov A. P137 Clinical characteristics of adult cystic fibrosis (CF) patients in Kazakhstan. Journal of Cystic Fibrosis. Volume 23, Supplement 1. June 2024, Pages S127-S128. DOI: 10.1016/S1569-1993(24)00495-8
10. Okroglic L., Sohier P., Martin C. et al. Acneiform eruption following elexacaftor–tezacaftor–ivacaftor treatment in patients with cystic fibrosis. JAMA Dermatol. 2023; 159 (1): 68–72. DOI: 10.1001/jamadermatol.2022.5208
11. Patel S.D., Bono T.R., Rowe S. M., Solomon G.M. CFTR targeted therapies: recent advances in cystic fibrosis and possibilities in other diseases of the airways. Eur. Respir. Rev. 2020; 29 (156): 190068. DOI:10.1183/16000617.0068-2019.
12. Schnell A., Jüngert J., Klett D. et al. Increase of liver stiffness and altered bile acid metabolism after triple CFTR modulator initiation in children and young adults with cystic fibrosis. Liver Int. 2023; 43 (4): 878–887. DOI: 10.1111/liv.15544
13. Shteinberg M., Haq I.J., Polineni D., Davies J.C.. Cystic fibrosis. Lancet. 2021 Jun 5;397(10290):2195-2211. DOI: 10.1016/S0140-6736(20)32542-3. PMID: 34090606.
14. Southern K.W., Murphy J., Sinha I.P., Nevitt S.J. Corrector therapies (with or without potentiators) for people with cystic fibrosis with class II CFTR gene variants (most commonly F508del). Cochrane Database Syst Rev. 2020 Dec 17;12(12):CD010966. doi: 10.1002/14651858.CD010966.pub3. Update in: Cochrane Database Syst Rev. 2023 Nov 20;11:CD010966. doi:10.1002/14651858.CD010966.pub4. PMID:33331662; PMCID: PMC8094390.
15. Taylor-Cousar J.L., Mall M.A., Ramsey B.W. et al. Clinical development of triple-combination CFTR modulators for cystic fibrosis patients with one or two F508del alleles. ERJ Open Res. 2019; 5 (2): 00082–02019. DOI: 10.1183/23120541.00082-2019.
16. Teper A., Lubovich S., Rodríguez V., Zaragoza S., Rodríguez E., Bournissen F.G. Real-life experience with a generic formulation of lumacaftor-ivacaftor in patients with cystic fibrosis homozygous for the Phe508del CFTR mutation. Pediatr Pulmonol. 2023 Dec;58(12):3560-3565. doi: 10.1002/ppul.26690. Epub 2023 Sep 15. PMID: 37712606
17. Tewkesbury D.H., Athwal V., Bright-Thomas R.J. et al. Longitudinal effects of elexacaftor/tezacaftor/ivacaftor on liver tests at a large single adult cystic fibrosis centre. J. Cyst. Fibros. 2023; 22 (2): 256–262. DOI: 10.1016/j.jcf.2023.01.007
18. Zampoli M., Verstraete J., Baird C., Calligaro G., Morrow B. Affordable Cystic Fibrosis (CF) Transmembrane Conductance Regulator Modulator Drugs for CF: All CF Lives Worldwide Matter! Am J Respir Crit Care Med. 2023 Nov 1. 208(9):915-916. doi: 10.1164/rccm.202307-1200VP. PMID: 37549229. PMCID: PMC10870869
19. Zemanick E.T., Taylor-Cousar J.L., Davies J., Gibson R.L., Mall M.A., McKone E.F., McNally P., et al. A Phase 3 Open-Label Study of Elexacaftor/Tezacaftor/Ivacaftor in Children 6 through 11 Years of Age with Cystic Fibrosis and at Least One F508del Allele. Am J Respir Crit Care Med. 2021 Jun 15;203(12):1522-1532. doi: 10.1164/rccm.202102-0509OC. PMID: 33734030; PMCID: PMC8483230.
20. Zolin A., Adamoli A., Bakkeheim E., van Rens J. et al. ECFSPR Annual Report 2022, 2024 https://www.ecfs.eu/sites/default/files/Annual%20Report_2022_ECFSPR_20240603.pdf. https://www.ecfs.eu/projects/ecfs-patient-registry/annual-reports
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Marshalkina T.V., Zhanuzakova N.T., Mukatova I.Y., Kim S.S., Amelina E.L. The First Results of Targeted Therapy in Children with Cystic Fibrosis in Kazakhstan // Nauka i Zdravookhranenie [Science & Healthcare]. 2024. Vol.26 (4), pp. 7-14. doi 10.34689/SH.2024.26.4.001Похожие публикации:
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