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Question #1: Is it PTC 124? / Question #2: Amendment to my question

Question
[Note from ECORN-CF: This combines two questions the questioner asked consecutively.]

Dear expert team,

I have three important questions:

1) My doctor, who unfortunately is not there anymore now, had me examined in order to find out which mutation I have. I do not remember the name now; she only said that I had the mutation that most inhabitants of Israel have and that there is a drug against it. Now the question is who can one contact or where can one get information on how far one has progressed? I am roughly 22 years old and my FEV1 is at roughly 80%. Do you have an address or phone number?
[Comment from ECORN-CF: the following information was added from the questioner as he asked the second time]:
My mutations are: in exon 5 the splicing mutation 711+1G>T and in exon 19 the stop mutation p.R1162X.

2) I run for 45 minutes every other day and inhale Mukoclear® 6% (hypertonic saline solution) 2-3 times a day as well as Sultanol® (salbutamol) once a day. I am doing pretty well, I cough once in a while during the day, mostly before inhalation. I also have physiotherapy once a week. Now I would like to know whether all this is enough to keep the lungs in shape or whether it is not sufficient?

3) Which inhalation equipment is most effective for the lungs?

Many, many thanks.
Answer
Dear questioner,

You asked three CF-specific question. Before I address those, I would like to give you some general advice. It is not entirely clear from your explanations whether you are being treated in a specialized CF institution. If this is not the case, then I would first of all like to encourage you to put yourself in the care of a CF clinic as a CF patient. There it is very likely that you will get good answers to questions specifically relating to your individual case. The ECORN-CF expert advice platform can only provide rather general answers and can help you in your conversation with your treating doctor. The specific relation to your case can only be made with a doctor who knows you personally. You can get names and addresses of experts from your local or national patient organization. [Translator's comment: information relating only to a specific country was not included in the translation.]

I would now like to address your questions concretely.

Question 1:
[Translator's comment: information relating only to a specific country was not included in the translation.]

It appears that you have stop mutation R1162X (for which Ataluren®, i.e. PTC 124®, could potentially help) and 711+1G>T, a so-called splice mutation (for which the drug is not effective, though).

In patients with a so-called stop mutation (such as the R1162X mutation), the reading of the CFTR gene is canceled prematurely due to a wrong stop signal so that a functioning CFTR protein cannot be produced. Ataluren® (PTC124®) is currently being tested; this agent enables the further reading of a gene beyond a wrong stop signal so that the cause of the disease in patients with your mutation can be fought.

So much for the theory the researchers of PTC Therapeutics, a pharmaceutical company, have been following in the development of Ataluren® for the treatment of CF. In the phase 1/2 clinical trials carried out so far, Ataluren® has been described as safe and effective, and the results of a recently published phase 2 study seem to confirm its effectiveness: The 19 patients between 19 and 57 years of age were given three tablets of Ataluren® per day in a low and a high dosage over 12 weeks. The result was a statistically significant improvement of the chloride channel activity (determined by nasal potential difference measurement) regardless of the dosage administered. For lung function, only a trend towards improvement could be detected. In addition, in a 24-hour measurement, coughing frequency was reduced by 23%.

A phase 3 clinical trial to test Ataluren’s® saftety and effectiveness over 48 weeks has already started. The results are expected for May 2012.

[Translator's comment: information relating only to a specific country was not included in the translation.]

Question 2:
Here you would like to know whether your sporting activities and physiotherapy are sufficient and whether you are inhaling the right drug.

Getting a lot of physical activity, exercising regularly, and getting physiotherapy are important recommendations for a CF patient in order to improve and stabilize his/her health. Drug therapy with drugs such as the expectorant you mention (Mukoclear® 6% / hypertonic saline solution) depend on the health status of each individual CF patient. It is therefore hard to answer your question via the internet. It certainly is good that you work out regularly, get physiotherapy, and support your therapy by inhaling expectorants. Regular health checks in a CF clinic can provide information on how stable your health is, and also on whether your therapy has to be changed.

Question 3:
Here you would like to know which inhalation device is suited best for your therapy. When choosing an inhalation device, several aspects have to be considered, such as:
- which drug should be inhaled?
- how many times per day should the inhalation be done?
- what is the patient’s ability to do an inhalation? (how sick is the patient?, how limited is his/her lung function?)
- which time slots does the patient have for the inhalation? (job? school? travel?)
- which device does the health insurance company cover?

It would therefore be very helpful for you to contact your CF doctor and CF physiotherapist and determine which inhalator is best for you together with the care team based on all those aspects that apply to your particular situation. Usually, CF patients use inhalators produced by Pari (E-Flow®, Pari-Master®, each with different nebulizer heads), but also other devices produced by INQUA (Akita®), Schill (Multisonic®) and many others.

I hope I could help you with my answers.

Kind regards and best wishes for 2012,
Dr. Christina Smaczny
28.02.2012