Fernando Augusto de Lima Marson, Carmen Silvia Bertuzzo and Jose Dirceu Ribeiro Pages 1007 - 1017 ( 11 )
Personalized drug therapy for cystic fibrosis (CF) is a long-term dream for CF patients, caregivers, physicians and researchers. After years of study, the fiction of personalized treatment has turned to hope. Basic information about CFTR mutations classes and new treatments is needed if we are to deal properly with the new CF era. The problems involved in this issue, however, should be evaluated with greater care and attention. VX-770 is a new drug available to treat CF patients with some class III CFTR mutations and other drugs are being studied regarding other classes. The scientific literature has constantly given information about each therapy, both in vitro and in vivo. The hope is increasing. Nevertheless the “scientific world” still lacks information about patients´ reality and daily health related practical needs. Clinical trials have showed good evaluation of some drugs so far, but clinical response is a wide spectrum yet to be analyzed: CFTR mutations spectrum, costs related to the treatment with new drugs (for VX-770 therapy), variability of CF clinical expression, limitations to test in vitro drugs, absence of good clinical markers to evaluate drug response, absence of long-term studies and with patients below six years old, multidrug treatment used to improve the expression response, and finally, the most important problem, who will benefit from the new drugs therapy, are issues that constitute a barrier that should be overcome. Personalized drug therapy may not be a fiction anymore, but it is not yet a reality for all CF patients.
CFTR, correctors, cystic fibrosis, personalized drug therapy, potentiators, PTC124, VX-770, VX-809.
Department of Medical Genetics and Department of Pediatrics; Faculty of Medical Sciences; State University of Campinas. Tessalia Vieira de Camargo, 126. Barao Geraldo, Cidade Universitaria “Zeferino Vaz”, CEP: 13083-887, Brazil.