My son went to the dr Friday and as soon as he gets off the antibiotics hes on- two more weeks- he will be enrolled in an exciting study- one of his mutations ends in an X - dont know all the letters and numbers- its fairly rare in US but more common in Israel in the Jewish population. He will be on a medicine for two weeks ,off two and then a higher dose for two more. This is to see if his gene will begin to work. This of course is just a first step but still exciting. He will be hospitalized two nights after each of the rounds of medicine. Does anyone else know if they have this mutation -from what I understand this medicine will only work for this certain one. But hopefully we will learn stuff that will help everyone.
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new study
- Thread starter anonymous
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Anonymous1
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my son also has a mutation that ends with a X------ his mutations are DF508 and G542X
Melissa mom to dylan 6 no cf and caleb 4wcf
Melissa mom to dylan 6 no cf and caleb 4wcf
In all honesty im not sure what the whole mutation is- I just know that the researchers get real excited because one of his mutations ends in x- Im not sure if there is more than one that ends in x. This mutation is called a nonsense mutation or a premature stop. The study will involve a new experimental drug.
My daughter has mutation R553X which is a non sense mutation. I think you are talking about Ptc124 which is a new approach to the treatment of generic disorder for people with non sense mutation. It works like gentamicin, but unlike gentamicin PTC124 has not antibiotic properties, it is oral delivered and so far do not have serious side effects. You can find more information @ www.ptcbio.org.