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The Teamwork of RCMG staff Devoted to the Assessment of the Population Frequency of Complex Allele in the CFTR Gene in the Russian Federation and Its Importance for Cystic Fibrosis Targeted Therapy Was Published

Employees of the scientific clinical department for cystic fibrosis together with the stem cell genetics laboratory and DNA-diagnostics laboratory at RCMG published an article in the highly rated international peer-reviewed journal «International Journal of Molecular Sciences» where the frequency of complex allele p. [Leu467Phe;Phe508del] in the Russian Federation among patients with the genotype F508del/F508del was established, its influence on the clinical course of cystic fibrosis and the effectiveness of targeted therapy. The study showed that patients with the genotype F508del/[L467F;F508del] can be recommended targeted therapy using a combination of ivakaftor + tezacaftor + elexacaftor.

The results of this research were included in the clinical recommendations «Cystic Fibrosis» (2021) and in the criteria of the Charity Fund for support of children with severe life-threatening and chronic diseases, including rare (orphan) ones «The Circle of Well».

Data on the population frequency of complex allele were obtained for the first time. No effect of allele p.[Leu467Phe;Phe508del] on patient health compared to homozygotes Phe508del/Phe508del is determined for the first time in the world.

Earlier, the same group of researchers of RCMG described a unique clinical case from its practice, which demonstrates that the presence of a complex allele in the CFTR gene can cause resistance to therapy by CFTR modulators. This fact is described and published in the scientific article «Personalized Selection of CFTR Modulator for the Patient with Complex Allele [L467F;F508del]» in the highly rated scientific peer-reviewed British journal «Current Issues in Molecular Biology».

This fact served as a reason to describe the clinical course of the disease in carriers of this allele, to determine its frequency in the Russian population of patients and to select targeted therapy with the help of forscolin test on intestinal organoids.

Follow the link to read more: https://www.mdpi.com/1422-0067/23/18/10377

Kondratyeva, E.; Efremova, A.; Melyanovskaya, Y.; Voronkova, A.; Polyakov, A.; Bulatenko, N.; Adyan, T.; Sherman, V.; Kovalskaia, V.; Petrova, N.;
Starinova, M.; Bukharova, T.; Kutsev, S.; Goldshtein, D. Evaluation of the Complex p.[Leu467Phe;Phe508del] CFTR Allele in the Intestinal Organoids Model: Implications for Therapy. Int. J. Mol. Sci. 2022, 23, 10377

https://doi.org/10.3390/ijms231810377