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PTC124 study
- Question
- Hello,
I heard about a PTC124 study. My daughter is five years old and has the R553x/IVS8-5T-TG12 mutations.
Could the above medication help her? How far advanced is the study by now?
Many thanks.
Kind regards
C.M. - Answer
- Hello,
the drug PTC124 is being tested in several international studies on patients with so-called stop mutations. Mutation R553X falls into this category, so that for patients carrying R553X in a homozygous (passed on by both parents) or a “compound”-homozygous (heterozygous, each parent passed down a different CFTR mutation) condition, PTC124 may have a positive effect (which is the case with your daughter). At this point, however, PTC124 is only available in the context of clinical trials.
[Translator’s comment: information that is only relevant locally has been omitted in the translation.]
Kind regards
Prof. M. Stuhrmann-Spangenberg - 07.09.2010
