Splicing mutations

Question

Do you know whether there are or there will be clinical trials on CF patients carrying a splicing mutation (other than stop-codons)?
Additionally, can you tell me whether VX770 (for G551D mutations) and VX770/VX809 (for homozygous F508del mutations) will be further tested in patients with any kind of mutations?

Answer

To the best of my knowledge, there are no clinical trials specifically assessing patients with splicing mutations.
These splicing mutations are a heterogenous group, with some mutations leading to truncation of the protein (which is non functional) and belonging to Class 1 mutations. Other splicing mutations lead to an abnormal protein which may be, at least partly, functional and is usually classified as class 5 mutation.

VX770 is currently tested in patients with Class 3 mutations other than G551D. Vertex announced that they may soon start clinical trials in patients with pancreatic sufficiency, regardless their type of mutations.
Combination of VX770/VX809 is currently limited to clinical trials in patients with F508del/F508del. If this program appears successful, it may be further tested in CF patients carrying only one F508del mutation.
Best regards,
Dr Pierre-Régis Burgel

07.05.2013