Topics

394delTT and Ataluren (PTC124)
My two children (aged 6 months and 2.5 years old) have cystic fibrosis and one of their mutations is the class I frameshift mutation 394delTT (a.k.a., the scandinavian mutation). 394delTT encodes a stop codon in exon 4.
09.07.2012
Kalydeco (VX770/Ivacaftor)
Have just read the devastating news on the CF Trust Forum that NICE (National Institute for Health and Clinical Excellence in the UK) are not going to recommend the National health service (NHS) provide Kalydeco in UK and want to know your thoughts and any suggestions on this to get it available? ...
09.07.2012
VX770 and R347P
Dear Team, I refer to the question you have already (partly) answered before. I think the more concrete questions is: if VX770 will help R117H - how likely is it that it can work on R347P (or any other class 4 mutation which is not a gating/class 3 mutation)? It is difficult to understand the ...
09.07.2012
genetic therapy
Hello, I wanted to have news about research on gene therapy
25.06.2012
G542X
Recently we were informed that the child I am about to give birth to will carry the mutations PG542X & C2183AA>G. Are these mutations grave? In average what is prognosis? Will the new drugs help my child? Is there some other way to help my child, other that physiotherapy and visiting the CF center? ...
02.07.2012
Meveol®
Hello I have a 4 month old baby suffering from cystic fibrosis. I have heard about Meveol® as a treatment that would be quite effective against recurrent infections. Could you give me some news regarding the research about this drug. Will this drug be available for children? Thanks in ...
11.06.2012
Mutation-specific treatment options
Dear expert team, my son is heterozygous IVS8-2A>C (intron 8) and F508del (exon 10). According to the CF clinic, he has had a mild course of the disease and is in very good shape. Which therapy forms (mutation-specific) are options for this very rare heterozygosity? I assume research mainly ...
05.06.2012
Mutation n1303k
My 3-year-old daughter has no germs, health condition well, drugs inhalation 6% NaCl with 5 drops Sultanol® (Salbutamol), UDC®250 (Ursodeoxycholic acid) 2x1 capsule, Kreon® (Pancreatin), Vigantoletten® (Cholecalciferol). Physiotherapy regularly. I would like to know if there is hope in future ...
15.05.2012
Ataluren trial for classe I mutation
Hello and thank you for your site ... Our 12 year old son is heterozygous for the CFTR mutation: deltaF508/11717-1GtoA. Reading this question in English on your site, here is the link: ...
15.05.2012
p.W1204X Mutation
Hello, I wanted to know if the mutation carried by my daughter, the p.W1204X could possibly benefit from the drug that would result from project ataluren?
15.05.2012
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