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CF with F508del and G542X mutations
- Question
- Hello,
My son was born in april 2011. He was diagnosed with CF (two mutations G542X and F508del). Are there any progress on treatments that could cure these two mutations?
He never had any diseases, it receives his Physio and takes Creon, the ADEK vitamins and does not gain much weight.
Yours - Answer
- Hello,
You will find many answers on this forum about the mutations present in your son (in French and English).
F508del (or DeltaF508) is the most frequent mutations among the 1,900 already known. Several clinical trials involving the combination of two molecules are in progress and show promising preliminary results (Vx770 (or Kalydeco) and Vx809). G542X mutation is a class 1 mutation, also called stop mutation. Tests were conducted with a molecule (Ataluren), and the results are being analyzed (see answers on this molecule).
Be aware that each CF is unique and it is difficult to predict an individual prognosis. Outside of CFTR mutations, many other parameters can affect the severity of patients' symptoms, such as regular monitoring by a specialized team, early treatment of infections and good nutrition. All these parameters influence the prognosis favorably.
I encourage you to discuss this and other matters with the CF team in charge of your son.
Dr. Sophie Ravilly - 13.08.2012
