Pregnancy and childbirth in a cystic fibrosis patient receiving a generic CFTR modulator: the first clinical case in Republic of Kazakhstan

The use of CFTR modulators in patients with cystic fibrosis (CF) during pregnancy and the impact of this therapy on the health of the mother and fetus are actively discussed in the international CF medical literature. Clinical data are accumulating to build consensus recommendations on this issue.

The aim of the article is to present the first case of pregnancy and childbirth during CF treatment with a CFTR modulator in the Republic of Kazakhstan. This is also the first published experience of using the generic triple combination targeted medication elexacaftor/tezacaftor/ivacaftor+ ivacaftor (Trilexa®, Tuteur S.A.C.I.F.I.A., Argentina) in a patient with CF during pregnancy. The clinical course of the disease before and after the initiation of pathogenetic therapy are highlighted. Significant clinical improvement was observed, including a reduction in the frequency of infectious exacerbations, improved lung function, and weight gain. Pregnancy occurred during targeted therapy and was successfully carried to term.

Conclusion. The presented case illustrates the high clinical efficacy and safety of the three-component targeted CF therapy in general and the used generic medication in particular. Considering the obtained data, it is advisable to expand the number of patients with CF receiving targeted therapy in Kazakhstan, both children and adults.

1. Siegel B., Siegel S. Pregnancy and delivery in a patient with cystic fibrosis of the pancreas: report of a case. Obstet. Gynecol. 1960; 16: 438–440. Available at: https://journals.lww.com/greenjournal/citation/1960/16040/pregnancy_and_delivery_in_a_patient_with_cystic.8.aspx

2. Amelina E.L., Krasovskiy S.A., Shuginin I.O. [Cystic fibrosis and pregnancy: clinical, genetic, functional and microbiological characteristics of patients]. Pediatriya im. G.N.Speranskogo. 2014; 93 (4): 38–43. Available at: https://pediatriajournal.ru/archive?show=336&section=4018&returnurl=%2Fauthors%2Fshow3789%2FAmelina_E.L..html (in Russian).

3. Cystic Fibrosis Foundation Patient Registry. Annual data report 2022. Bethesda (Maryland): Cystic Fibrosis Foundation; 2023. Available at: https://www.cysticfibrosis.org.uk/sites/default/files/2023-12/CFT_2022_Annual_Data_Report_Dec2023.pdf

4. 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.

5. Krasovskiy S.A., Kagazezhev R.U. [Using generic drug elexacaftor/tezacaftor/ivacaftor+ ivacaftor in patients with cystic fidosis in routine clinical practice]. Pul'monologiya. 2023; 33 (6): 781–791. DOI: 10.18093/0869-0189-2023-33-6-781-791 (in Russian).

6. Mukatova I., Amelina E., Kim S., Serikova A. P066 the first experience of triple targeted therapy in adult patients with cystic fibrosis in Kazakhstan. J. Cyst. Fibros. 2025; 24 (Suppl. 1): S86. DOI: 10.1016/j.jcf.2025.03.084.

7. Marshalkina T.V., Zhanuzakova N.T., Mukatova I.Y. et al. [The first results of targeted therapy in children with cystic fibrosis in Kazakhstan]. Nauka i zdravookhranenie. 2024; 26 (4): 7–14. DOI: 10.34689/SH.2024.26.4.001 (in Russian).

8. Kung K., Riond J.L., Wanner M: Pharmacokinetics of enrofloxacin and its metabolite ciprofloxacin after intravenous and oral administration of enrofloxacin in dogs. J. Vet. Pharmacol. Ther. 1993; 16 (4): 462–468. DOI: 10.1111/j.1365-2885.1993.tb00212.x.

9. Chouchana L., Collier M., Martin C. et al. CFTR modulators and pregnancy outcomes: Early findings from a nationwide cohort study J. Cyst. Fibros. 2025; 24 (3): 469–475 10.1016/j.jcf.2025.03.002.

10. Trimble A.T., Donaldson S.H. Ivacaftor withdrawal syndrome in cystic fibrosis patients with the G551Dmutation. J. Cyst. Fibros. 2018, 17: e13–16. DOI: 10.1016/j.jcf.2017.09.006.