Sammendrag
Introduction: In Cystic Fibrosis (CF), a life limiting disease caused by Cystic Fibrosis Transmembran Regulator (CFTR) gene mutations, lung disease is the main contributor to morbidity and mortality. Over the past decades, treatment strategies such as pancreatic enzyme replacement therapy, mucus clearing techniques and antibiotics have improved prognosis substantially. Life expectancy in CF is now beyond 40 years of age. The introduction of causal CFTR modulator treatment, that corrects the underlying defects of the CFTR protein, is expected to improve CF patients’ prognosis and life quality further. The objective of this literature review is to describe the clinical effects of these medicines. Method: A systematic literature search was conducted using both Pubmed and Embase. Search terms used were ivacaftor, lumacaftor, tezacaftor, elexacaftor and phase 3. Identified studies had to meet these four inclusion criteria: 1) phase-3 study, 2) participants ≥ 50, 3) intervention phase ≥ 4 weeks and 4) randomized and double-blinded. Results: Twelve of the identified studies met the inclusion criteria. Their combined results show that CFTR modulators can reduce symptom burden, reduce incidence and severity of pulmonary exacerbations, improve lung function and increase BMI in a large proportion of CF patients. Conclusions: CFTR modulator treatment has the potential of improving the prognosis and quality of life of CF patients substantially. Ongoing drug development is expected to provide causal treatment for more patients at a lower cost in the future. CFTR modulators give hope for patients with CF, and their future has never looked brighter!