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CFTR Modulator Therapy For Cystic Fibrosis

M. Nikolova, M. Galabova, N. Dobrudjanska, N. Rasheva, K. Koleva, M. Georgieva

Abstract

Introduction
Cystic fibrosis (CF) is the most common life-limiting autosomal recessive condition in Caucasians, affecting the respiratory system, digestive tract and all exocrine glands. It is caused by a mutation in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The genetic analysis, in addition to diagnosis, serves to create a modern individual CFTR modulator therapy.
Aim: The aim of this article is to do a presentation of products for CFTR modulator therapy, which are available worldwide; introduction to their pharmacokinetic and pharmacodynamic properties; evaluation of the effect of their application.
Materials: We have conducted a study of medical literature related to the products for CFTR modulator therapy and review of information on the topic.
Results: The use of approved CFTR modulator therapy products in patients suitable for their use (specific genotype) results in an improvement in FEV1 values and body mass index and a reduction in the incidence of exacerbations in these patients.
Conclusion: CFTR modulator therapy significantly improves the prognosis and quality of life of cystic fibrosis patients as a result of certain mutations in the CFTR gene. Quality care for other patients with other mutations is especially important so that they can benefit from personalized treatment in the future.

Keywords

cystic fibrosis, CFTR, therapy, genetics, products

Full Text


References

Antoniou, S., & Elston, C. (2016). Cystic fibrosis. Medicine, 44(5), 321–325.

Шмилев, Т. и колектив, Клинична пулмология в детската възраст. Второ издание, 2017г. Глава 45, стр. 473-487.

Egan, M., Clinics in Chest Medicine. Volume 37, Issue 1, March 2016, Pages 9-16.

Meng, X., Clews, J., Kargas, V., Wang X, Ford, RC., The cystic fibrosis transmembrane conductance regulator (CFTR) and its stability. Cell Mol Life Sci. 2017 Jan;74(1):23-38.

Moran, O., The gating of the CFTR channel. Cell Mol Life Sci. 2017 Jan;74(1):85-92.

http://www.genet.sickkids.on.ca/cftr

De Boeck, K., Amaral, MD., Progress in therapies for cystic fibrosis. Lancet Respir Med. 2016 Aug;4(8):662-674.

Савов, А., Генетични дефекти при пациенти с муковисцидоза в България. InSpiro, бр. №3 (15), септември 2011, 30-33.

Петрова, Г., Митева, Д., Переновска, П., Генно-модифицираща терапия на муковицсидоза. Medinfo, Брой 06, 2018, 52-57.

De Boeck, K., Munck.,A., Walker, S., Faro, A., Hiatt, P., Gilmartin, G., et al. Efficacy and safety of ivacaftor in patients with cystic fibrosis and a nonG551D gating mutation. J Cyst Fibros 2014;13:674–80.

Ramsey, B. W., Davies, J., McElvaney, N. G et al, A CFTR Potentiator in Patients with Cystic Fibrosis and the G551D Mutation. New England Journal of Medicine. 365(18), 1663-1672.

Boyle, MP., Bell, SC., Konstan, MW., et al. A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: a phase 2 randomised controlled trial. Lancet Respir Med 2014;2:527–38.

Bell, SC., De Boeck, K., Amaral, MD., New pharmacological approaches for cystic fibrosis: Promises, progress, pitfalls Pharmacology & Therapeutics 145 (2015) 19–34.

https://www.vrtx.com/


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