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Review

A Focus on Cystic Fibrosis Transmembrane Regulator (CFTR) Genetic Lesions, Phenotype Expressions and Emerging Therapies for Cystic Fibrosis: An Update

Shaik Karimulla1★★ Corresponding author

  1. 1Department of Pharmacy Practice, College of Pharmacy, University of Hafr Al Batin, Hafar Al-Batin, SAUDI ARABIA.

CORRESPONDENCE

Shaik Karimulla

Department of Pharmacy Practice, College of Pharmacy, University of Hafr Al Batin, Hafar Al-Batin, SAUDI ARABIA.

kshaik@uhb.edu.sa

Received: 28-09-2024; Revised: 17-12-2024; Accepted: 07-04-2025.

Volume 17, Issue 2 · pp. 299–305 · PUBLISHED · DOI: 10.5530/jyp.20251508

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ABSTRACT

Cystic Fibrosis (CF) is a multisystem disorder primarily impacting the lungs, characterized by bronchial obstruction, infection and inflammation. Over 75% of CF patients are diagnosed by age 2, with most living beyond 18. The disease is linked to over 2,000 mutations in the CFTR gene. Current treatments focus on CFTR modulators like ivacaftor, lumacaftor and tezacaftor, which enhance CFTR protein function and improve lung health. However, these therapies face challenges, including limited efficacy against a wide range of CFTR mutations, high costs and concerns about long-term safety and effectiveness. Poor patient adherence and inefficacy of genetic therapies further complicate treatment. This review explores the genotypic and phenotypic expression of CFTR, evaluates current treatment strategies and analyzes the clinical outcomes of CFTR modulators in specific populations. It also examines the scope of ongoing clinical trials and considers future approaches, such as advanced gene editing technologies and personalized medicine, aiming to address the limitations of current treatments and improve disease management. These futuristic strategies hold promise in enhancing therapeutic efficacy, broadening mutation coverage and reducing the prevalence of CF through more targeted and durable interventions.

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    Karimulla, S. (). A Focus on Cystic Fibrosis Transmembrane Regulator (CFTR) Genetic Lesions, Phenotype Expressions and Emerging Therapies for Cystic Fibrosis: An Update. Journal of Young Pharmacists, 17(2), 299–305. https://doi.org/10.5530/jyp.20251508