G542X mutation

Question

I am 19 years old, have CF and carry the mutation G542X. I read and hear about a medication that will be commercially available the coming years for the radical cure of the disease.
Is this medicine available to purchase?
If not, do you know what state it is in?

Answer

Dear friend,
Ataluren (PTC 124) is an orally administered medicine that allows the ribosomes to continue the transcription, despite the presence of a premature stop codon.
At first gentamicin was used. Then Ataluren was administered, which has been used in another genetic disease with this kind of mutation (stop mutation). An improvement in nasal potential difference measurement was noted in various stage II clinical trials.
In a multi-centre stage III clinical trial, that was concluded recently, the intended results were not achieved.
When the results were further analysed, and the patients were grouped in those that received aminoglycosides and those who did not, an improvement of respiratory function was observed in the group that received Ataluren but not inhaled aminoglycosides, but not in the group that received Ataluren and inhaled aminoglycosides. No change in the results of the sweat test or nasal potential difference was observed in both groups.
Another clinical trial is expected to begin, where the effect of Ataluren in people that do not receive this kind of inhaled medicine will be investigated.
In any case, you must continue to receive your current treatment, which has been recommended by your CF centre, and keep in regular touch with the centre, in order to receive valid and updated information about the new developments.
Yours friendly,
Dr. Stavros Doudounakis

03.11.2014