Topics

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
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
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