The session will focus on new therapeutic approaches for CF patients carrying non-F508 mutations. Mutations have traditionally been grouped by their according to type (nonsense, missense, etc.) or by the CFTR functional classes. However, in the era of novel therapies it may be more useful to characterize mutations in terms of their response to particular therapies. We will discuss the CFTR2 project and how it has defined the genetic epidemiology across North America and Europe. We will also introduce therapeutic approaches for patients carrying nonsense and splicing mutations as well as the option of clinical trials for patients carrying rare or private mutations.
Summarize the distribution of CFTR mutations woldwide.
Describe how CFTR mutations can be characterized according to response to therapies
Assess novel therapies directed at non F508del CFTR mutations