Ataluren trial for classe I mutation

Question

Hello and thank you for your site ...

Our 12 year old son is heterozygous for the CFTR mutation: deltaF508/11717-1GtoA.
Reading this question in English on your site, here is the link: http://ecorn-cf.eu/index.php?id=32&no_cache=1&L=8&tx_expertadvice_pi1[showitem]=3182&tx_expertadvice_pi1[search]=
I understand that a study for mutations belonging to class I, but not ending with an X, would take place this summer. Am I right? If so, how should it be organized? Would the mutation 1717-1GtoA be involved?
In advance thank you very much for your reply. And thank you for the time you give for patients and their families.
Best regards
M.

Answer

Hello,

I would translate into french a part of the answer I've read by clicking on the link in your question:
The ataluren is known to affect patients with splicing mutations that cause a premature stop signal (stop codon).
A phase III clinical trial (Ataluren versus placebo) has been performed for patients with this type of mutation, and the results are expected for this summer.
Today we do not know if Ataluren can affect all splicing mutations, as 1717-1GtoA mutation is a splicing mutation but does not lead to a stop codon.

Best regards,
Anna Ronayette (Head of clinical research programs of Vaincre la mucoviscidose)

15.05.2012