Hope for cure

Question

I am a carrier of two mutations, G542X and 2183AA>G. Are there any grounds for hope for a cure in my case? If yes, what does it mean and what will change in my everyday life? If not, is there anything being done for my mutations, or are they rare and indifferent to the researchers?

Answer

Dear friend,

There is hope soon. The G542X mutation is the third most frequent mutation in the Greek population and it belongs to a group of mutations named nonsense mutations, which carry the letter X and the end of their name. These mutations lead to the termination of the synthesis of the CFTR protein.
The eight most frequent mutations in the Greek population are as follows:

DF508 53,4%
G542X 3,9%
N1303K 2,6%
2183AA>G 1,4%
E822X 1,4%
2789+5G>A 1,7%
R1158X 1,0%

The mutation 2183ΑΑ>G is the fifth most frequent mutation in the Greek population and is a frame shift mutation.
Mutations G542X and 2183AA>G are neither rare, nor indifferent, since many CF patients carry this combination of mutations.
Dear friend, there are drugs under trial for the G542X mutation, like Atarulen, which is in the final phase and the results of the clinical trials will be most probably available in 2016. There are underway various studies for all the CF mutations. It is believed that there will be a radical cure for all mutations within the next five years.
Until such a discovery is made, you need to follow the treatment prescribed by your CF center and do daily physiotherapy.
I am not aware of your present condition. In a percentage of patients receiving Kalydeco (as a example for a drug targeting the genetic abnormalities) a there was a definitive reduction of the frequency of exacerbations, of the duration of IV treatment, increase of FEV1, reduction of the frequency of pseudomonas infection, increase of bodyweight, decrease of the need for insulin administration in patients with diabetes, even an improvement of CT findings.
Yours friendly,
Dr. Stavros Doudounakis

19.09.2015