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Nonsense Mutations

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Seana30

New member
Thank you Emily and Allie for explaining that to me.

Why have I never heard of this before?

Is this something they are just learning about?????

Seana
 
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john81john

New member
Hi,

I have got one Celtic mutation (G551D) and one Germanic nonsence mutation (R553X) and I live in Slavonic central Europe (Czech republic), interesting and ironical, istnt it?. I am 25 and I have FEV1 90%, moderate lung involvement (3-4 hours daily therapy is necessary) and severe digestive involvement (30 caps Croen 25000 daily).
There is the PTC124 study in Birmingham Alabama and in Izrael for those who have 1 or both nonsence mutations. This drug could restore CFTR protein in CF patiens with nonsence mutations. I was in contact with prof. Kerem, but it wasnt easy to negotiate my residence in Izrael for 2 moth, also I dint joined that study.There was similar study by prof Kerem with Gentamicin, i.v. Gentamicin could restore CFTR protein in CF patiens with nonsence mutations too, but it can be toxic. Inhaled Gentamicin is used for almost 20 years fot CF treatmnet in Denmark, also i.v. Gentamicin and Denmark has the best life expectancy for CF patients in all world...

GOOD LUCK!
 
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john81john

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>anonymous</b></i>

My son has a nonsense mutation and was involved in the PTC124 study in Birmingham Al- there are 4 sites in the US doing the study as well as in Israel- he finished the study in December. He has had more sinus trouble than lung- I would call his lung and digestive involvement mild and his sinus involvement moderate. He is soon to be 21 and is working full time and going to school also. Please write back with any more questions. Susan</end quote></div>

Hi Susan,

please can you tell us, how had your son judged that study, does he feel better, does he feel any positive effects of PTC124?Any negative effect? Thanks for all of us with nonsence CF mutation...
 
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anonymous

New member
Dear John81john- The drug is supposed to be something that you take daily so it was not supposed to have a lasting effect. But strictly from my observing him in the months after he took the meds I did notice him feeling better, less coughing, weight gain. He generally does very well anyway. After two weeks on the meds the dr who was doing his testing-nasal pds and nasal scrapings- said that Wills measurements were not normal but had moved more toward normal. He was off the med for two weeks and then on a higher dose - the tests didnt show a great deal of difference between the doses. But when they got the results back from his nasal scrapings it showed more promise. Now dont ask me exactly what they are measuring because I cant get it exactly straight in my mind lol much less write it down but before the drug whatever it was in Will measured a 3 and normal- the dr measured himself was a 52. After the study Will measured a 26 so that sounded great. The only side effects we noticed that for 30 seconds or so after he swallowed the med- it was a powder you mixed with water his throat burned and his first urination of the day burned. But all testing of kidneys, throat were ok. The last time I talked with our resp therapist who was involved in conducting the study it was still ongoing in other sights in the US. Hopefully if everything goes well the next phase will be next yr- I hope Will can be involved in that too. This phase was mainly to test safety and see about dosing. Susan
 
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anonymous

New member
I think the next phase- not positive- the drug will be taken for a longer period of time and be open to more patients and possibly younger patients- you had to be 18 to be in this one. Susan
 
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