G551D/S549R Kalydeco® - yes or no?

Question

Hello!
Our daughter has been diagnosed lately at the age of 6 years. She has a marked pancreatic insufficiency, for 1.5 years a stagnating course of height and weight, furthermore an FEV1 value of 111%. Staphylococcus aureus and Haemophilus influenzae have been there for a short time, however have disappeared fast after oral antibiotic treatment.
With Kreon and Omeprazol (beacuse of too much gastic acid and a gastritis) she has gained in the meantime one kilogram.

Our question is now, does it make sense in spite of this favourable course, to take Kalydeco®? Can it protect the lung against potential germs and damages?
What is your opinion?
Best regards!

Answer

Hello,
the focus of the illness of your daughter seems at first to be the gastro-intestinal tract, as well as the pancreas. The lung function appreas to be very good and problematic germs, like Pseudomonas, have not been detected. In spite of this, it has to be stated, that an FEV1 value of over 100% is not an exception in case of CF at that age. This does not mean much. The course if of greater importance. Further investigations could give more detailed information about the involvement of the lung. Overall, your question can be answered easily. We have a drug with Kalydeco®, that is licensed for both mutations of your daughter. The improvement of the patients under the therapy with Kalydeco® in case of the respective mutation, is not limited to the lungs. Kalydeco® leads in the gastro-intestinal tract to a normalization of the pH value and consequently, the enzyme therapy has a better effect. I would in any case advise such a therapy for your daughter. Please talk about this to your physician in charge.

Best regards,
Dr. Olaf Eickmeier

16.05.2015