Topics

State of research?
Dear expert team, How far advanced is the current state of research on VX809 really? Is there a chance for this drug to be released to the market this year (2013)? And is it correct that it is only applicable to the Delta F508 homozygous mutation – and only to patients in very bad ...
04.11.2013
medicines (small molecules)
I try to find medicines or research projects for possible medication for class V and VI mutations. For class V mutations, the mRNA splicing does not work properly or the transcription level is too low, as for class VI mutations, there is not enough CFTR channel in the membrane because the increased ...
14.10.2013
PCT124 in Greece
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 ...
23.09.2013
Two Class I mutations
Hi our son has two class one mutations, 3659delC and 2183AA>G. My research has shown that these are both frame shift mutations. Are there any drugs or studies for people with two Class I mutations?
11.09.2013
Muscular dystrophy
What is the latest news about drug PTC124 (Ataluren) ? and does medication proved its effectiveness in the treatment of muscular dystrophy? I heard that the drug will be available at the end of 2013 or the beginning of 2014 Is this true? I do not know if it has been the answer to this ...
12.08.2013
Possible medicamentous treatment of this form of mutation?
Dear expert team, I have already asked a question about the respective CF mutation form of my son; many thanks for the extensive answer (see below). Now, I would also like to know if there will be a medicamentous treatment for my son’s mutation form in the near future? Best ...
31.07.2013
D1152H and G85E
Hello, my son (5 months plus) has inherited the D1152H and G85E mutations. His sweat test at 14 days old came back borderline at 33. His first two fecal elastase tests came back borderline, but his most recent test came back normal. Overall he has been healthy thus far. Any info on these two ...
31.07.2013
Novelties on Pseudomonas aeruginosa
Would it be possible to know where the research stands on Pseudomonas aeruginosa worldwide? Is there any new antibiotic? Thank you.
31.07.2013
Crataegus
Hello, Several years ago, a study group in Gießen [Germany] showed in a small study a positive effect of Crataegutt® [crataegus] on the chloride channel in CF patients. What is the current status? Formely, I was a participant of the study and maybe I would like to repeat the tests, i.e. ...
29.07.2013
Cystic fibrosis
DEAR EXPERT TEAM I would like to know more about the availabilty of Kalydeco® in Bulgaria and if there will be any point for someone suffering from CF with the mutations 621+1G/T, N1303K to try this medication and also if not suitable what other treatment should we look for in order to keep ...
22.07.2013
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