Topics

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
Delta F508 x G542X mutation
Dear expert team, My two-month-old daughter has the mutations mentioned above; class 2 and class 1, respectively, i.e. very serious mutations. Do you know about any progressions of the disease with this combination? What should we expect? Can you recommend any drugs? My daughter is gaining ...
07.05.2012
IMPACTT protocole
The physician who follows my 15 year old son proposed him to participate in the IMPACTT study (http://impactt.eu/) which is to gargle and then swallow every night a formula enriched with egg yolk Y immunoglobulin. From what I understand, the hens are vaccinated against pyo and produce antibodies ...
07.05.2012
PTC124
I would like to know PTC124 results. Thank you
02.05.2012
Aberrant Splicing Mutations and Ataluren
My 14 year old daughter has the two mutations DF508 and 621 + 1G > T. It is my understanding that the 621 + 1G > T mutation causes aberrant splicing of mRNA. How is that different from a nonsense mutation? Currently, I see that Ataluren trials are targeting nonsense mutations in Class I.  ...
24.04.2012
DeltaF508/R553X, part II
Dear expert team, Please allow me a further question concerning the genotype mentioned in the subject line. In “Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis” ...
17.04.2012
VX 770
Hello, A CF individual from France told me that the French health authorities do not give approval for VX 770 (not even via the "named patient program" of Vertex) since it is supposed to cause hepatitis side effects. Do you know more about it? [The second part of the question was only ...
22.03.2012
PTC124 approval?
Dear expert team, as far as I know, the drug is currently in phase III, which is supposed to end by mid-2012. Can you predict roughly how long it will take until the drug is approved and how likely it is to get approved at all? In case it does not get approved, would it be possible to ...
22.03.2012
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