Theranostics by testing CFTR modulators in patient-derived materials: The current status and a proposal for subjects with rare CFTR mutations

J Cyst Fibros. 2019 Sep;18(5):685-692. doi: 10.1016/j.jcf.2019.06.010. Epub 2019 Jul 17.


The last decade has witnessed developments in the CF drug pipeline which are both exciting and unprecedented, bringing with them previously unconsidered challenges. The Task Force group came together to consider these challenges and possible strategies to address them. Over the last 18 months, we have discussed internally and gathered views from a broad range of individuals representing patient organizations, clinical and research teams, the pharmaceutical industry and regulatory agencies. In this and the accompanying article, we discuss two main areas of focus: i) optimising trial design and delivery for speed/efficiency; ii) drug development for patients with rare CFTR mutations. We propose some strategies to tackle the challenges ahead and highlight areas where further thought is needed. We see this as the start of a process rather than the end and hope herewith to engage the wider community in seeking solutions to improved treatments for all patients with CF.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Culture Techniques / methods
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Cystic Fibrosis* / drug therapy
  • Cystic Fibrosis* / epidemiology
  • Cystic Fibrosis* / genetics
  • Drug Approval
  • Drug Development* / methods
  • Drug Development* / standards
  • Europe / epidemiology
  • Humans
  • Membrane Transport Modulators / pharmacology*
  • Molecular Targeted Therapy / methods
  • Molecular Targeted Therapy / standards
  • Mutation / genetics
  • Quality Improvement
  • Registries / statistics & numerical data
  • Theranostic Nanomedicine / methods*


  • Membrane Transport Modulators
  • Cystic Fibrosis Transmembrane Conductance Regulator