PCT124 in Greece

Question

When will the drug that cures the symptoms of the mutations ending in x be available in Greece? I have the mutation G542X. Will the administration of this drug enable me to stop physiotherapy, the drugs for pseudomonas, and will my everyday life become normal? Will I have this, since nothing has been found for my other mutation, 2183AA.
I feel different due to all this. I am too young and I have to explain things to other people and I must follow a set course, and if I want to have a good life I must work for it. However, I get disappointed sometimes and bored, my parents become a burden by caring for me so much. I have a good teacher and I study a lot.

Answer

Dear friend,
The drug PTC124 (commercial name Ataluren) acts at the level of ribosomes and allows the passage of early ending codons and the production of the full length CFTR protein in people with nonsense (MMCF) mutations of cystic fibrosis.
An international phase III trial has been completed in October 2012. For this trial, 238 patients over 6 years with a stop mutation were included. At random, patients received for 48 weeks Ataluren or placebo.
The results showed that patients with Ataluren had lower decline in lung function and less pulmonary exacerbations, compared to those who took a placebo. But this difference was not significant.
It seems that inhaled antibiotics have a negative effect on the action of ataluren. When analyzing only the data of patients not treated chronically by inhaled antibiotics, the decline in function and number of pulmonary exacerbations is lower for those who took the Ataluren compared with placebo. This time the difference between the two groups is greater and therefore significant.
At them moment, a phase III extension study is active (completion in december 2013) with 208 patients who participated in the mentioned phase III Ataluren vs. placebo study in order to gather more information about safety and efficacy.
As a significant improvement could only be shown in a subgroup of patients (those not inhaling antibiotics chronically), it is at the moment not clear if and when Ataluren will receive market authorization. Hopefully, furhter studies will provide data showing a clearer effect.
Dear friend, I am not aware of your clinical picture. I believe, though, that if you have bronciecatasis and permanent pseudomonas colonization, you will not stop the treatments you receive, but the treatment regime will be significantly less.
Every person is different, and one should not be ashamed of his/her differences. You are young and you must have aims in your life. You must love yourself as well and you must struggle every day to implement the recommended treatment.
Your parents love you and protect you, as most parents usually do, something you will understand when you become a parent.
I think that you will find other people to inspire you and encourage you to stay on course with your life.
If you visit the CF center at “Aghia Sofia” ask for an appointment with me to discuss all this in person.
Yours friendly,
Dr. Stavros Doudounakis and Dr. Daniela d'Alquen

23.09.2013