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Topics
- pct drug
- hello, i would like to know if the pct drug can be used on haemophiliacs.
- 29.04.2009
- VX 809 -gene therapy
- My son is 6 years old and he has a cystic fibrosis - genotype Delta F 508 in both allels. When we can to expect the gene therapy of product VX 809 in Europe as part of necessary medical therapy?
- 07.04.2009
- PTC 124 / Vertex VX-809
- My son has the following mutations: 1717 1g --> A (class I mutation) as well as s549R (class II mutation). “1717 1g --> a” is a class I mutation. More precisely, it is a splice site mutation which, however, triggers a stop codon. Is PTC 124 effective with this kind of mutation? The ...
- 24.03.2009
- CF with two nonsense mutations
- Hello, our son (5 weeks old) was born with meconium ileus and suffers from exocrine pancreatic insufficiency, which is being treated with pancreatin. By now, it is clear that he has CF. The genetic test showed a compound heterozygosity with nonsense mutation in exons 6 and 11 (heterozygous ...
- 02.03.2009
- PCT 124
- Dear expert advice team, I have the following mutations, 508 and R 1066C. Since R1066C is a so-called nonsense mutation: Could you inform me if PCT 124 can be a cure in this case or makes treatment more effective? Is there already a date when this drug will be available? Thank you very ...
- 24.02.2009
- PCT 124
- Does PCT 124 help in case of cftr dele 2,3?
- 24.02.2009
- Information on PTC-124
- Hello, I have read with great interest the question of a father of two CF children in Austria. In this question, the study drug PTC124 was mentioned. Could you please provide more information on this interesting medication and scientific approach? My daughter (28yr) suffers from CF, which was ...
- 15.01.2009
- Stem Cells
- Hello, Our first son is affected by Cystic Fibrosis. Currently I am pregnant again and heard about archival storage of stem cells from the umbilical cord. Is there really any sense in investing a lot of money there? Of course we would hope that science might be thus far advanced one day that our ...
- 13.11.2008
- PTC-124
- Could you please give me some information about PTC-124. My children have the mutation F508/R553X. PTC-124 is according to my research only applicable for stopp-mutations. As a consequence also to the ones of my children? How far is the research on this field really?
- 16.06.2008
- Genotype F508/R553x, Gentamycin Inhalation
- Hello, My 30-year old son has the genetic constellation delF508 and R553X. He inhales since approx. 20 years Colistin, after his Pseudomonas showed resistance against Gentamycin. Could he, nevertheless, inhale with Gentamycin? According to Professor Kerem, the substance PTC 124 is also ...
- 21.01.2008