The recent success of CFTR modulators has led to a paradigm shift in the care of CF patients with many common CFTR mutations. However, for the 5-10% of patients with mutations causing premature termination codons (PTCs), or the so-called nonsense mutations, CFTR modulators alone are unable to address the fundamental defect: absence of CFTR protein production. For patients with this often severe form of CF, development of novel and innovative treatments is necessary. Furthermore, we now understand that there is heterogeneity in the molecular consequences of nonsense mutations that must inform our therapeutic approach. In this session, we will explore our current understanding and approaches to restoring function of CFTR nonsense mutations.
Discuss the molecular and functional consequences of PTC mutations in CF.
Describe the variability of CFTR PTC mutations and how this may impact therapeutic approaches.
Discuss potential therapies to address CFTR PTC mutations and the challenges associated with bringing these safely to the clinic.