Cystic fibrosis: increasing the CFTR protein to improve treatment


The research team develops a strategy to improve the response to drugs that affect the main mutations responsible for the disease: pharmacologically targeting the cellular mechanisms that are responsible for the degradation of the mutated CFTR protein allows to improve the efficacy of Kaftrio, the combination of CFTR modulating drugs recently approved by EMA.

Published in the international journal Cellular and Molecular Life Sciences Targeting the E1 ubiquitin-activating study enzyme (UBA1) improves elexacaftor / tezacaftor / ivacaftor efficacy towards F508del and rare misfolded CFTR mutants, the study was conducted by researchers from the University of Padua and by a team led by Dr. Nicoletta Pedemonte of the Giannina Gaslini Institute in Genoa.

Professor Mauro Salvi of the Department of Biomedical Sciences of the University of Padua coordinated the study funded by the Foundation for Research on Cystic Fibrosis (projects FFC # 11/2019 and FFC # 9/2019). The research paves the way for possible improvements and as an extension for the cystic fibrosis therapy Kaftrio, also known as Trikafta in the USA.

Cystic fibrosis is a widespread recessive genetic disease within Italy, with an incidence rate of one in every 2500-3000 births, with an average life expectancy of just over 40 years.