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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
