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F508/R1162X
- Question
- Dear ladies und gentlemen,
unfortunately we have to assume that our unborn son (31 st week of gestation) has inherited the mutations F508 and R1162X, as we are both each heterozygous carrier of one of those mutations and in the last prenatal ultrasound investigations always an echogenic bowel could be detected.
Could you give us some information about the drugs Ataluren, VX-809 and Ivacaftor? Which centers in Germany take part in studies? Does it make sense to try such a therapy early in our child, in case after birth the suspicion of CF should be confirmed, in spite of the fact that he is not homozygous for the respective mutation? What else can be done, in order to treat the illness from the beginning as good as possible?
Many thanks for your expertise,
We hope on a soon answer,
two worried parents from collogne [Germany] - Answer
- Dear questioners,
I think that until now nothing has been missed, yet. At first it can be said on the two mutations, that have been found in you as parents, that it deals with so-called frequent mutations of the caucasian population and that in case of compound-heterozygousity of those mutations the classical picture of CF can be seen.
Now to your questions. In case of the possible heterozygous state of your child one has to assume at the moment, that the new substances (Ataluren, VX-809 and Ivacaftor) do not represent a therapeutic option for your child. As there are at the moment very many new drugs for CF in development, you can nevertheless see hopefully into the future. Studies, that are running at the moment, are only done with older children or adults, i.e. newborns are not included in those studies. Information on the current status concerning the participation in those studies in Germany can best ge gained from the German patient organization [contact data of the German patient organization was given here and also contact data of the specific CF-center in collogne].
After birth, the necessary diagnostics should be done as soon as possible in the mentioned regional CF-center. In case the suspicion of CF should be confirmed you got the optimal care for your child there.
We wish you much luck.
Best regards,
Dr. H.-G. Posselt - 19.06.2013
