Mutation n1303k

Question

My 3-year-old daughter has no germs, health condition well, drugs inhalation 6% NaCl with 5 drops Sultanol® (Salbutamol), UDC®250 (Ursodeoxycholic acid) 2x1 capsule, Kreon® (Pancreatin), Vigantoletten® (Cholecalciferol). Physiotherapy regularly. I would like to know if there is hope in future to treat this mutation, e.g. ataluren would that be relevant for us?
Thank you for answering.

[The original question was also asked in telegraphic style.]

Answer

Hello,

As far as I know there is no drug that is currently tested for the mutation N1303K. The mutation N1303K belongs, though, to the same mutation class as the most frequent mutation in CF which is F508del. As you probably know, due to the high frequency of F508del there is already an intensive search for a causal drug going on, even if studies have not been overly successful yet. But you can be sure that the search for F508del will be continued intensively. It looks like cell experiments have shown hints that a causal therapy for a certain mutation could under certain circumstances also have effects on other mutations of the same mutation class. For this reason, with N1303K it could possibly be worth it to test a successful therapy for F508del (if available somewhen in future) for this mutation. Insofar, there is still hope for a causal therapy for you; although there will be no such drug available at short notice it could be that there will be one in the medium term. Currently, though, there is no such research going on.
You mentioned Ataluren which is only effective for another mutation class and therefore it can be assumed that it does not have effects on N1303K.

Best regards,
Olaf Sommerburg

15.05.2012