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I don't think so. I hope the n of 1 trial will be based on phenotype rather than on genotype. So they are focusing on discussing with FDA (And I hope for myself even with EMA) on approving this drug for other patients based on biomarkers of improvements and markers of residual function (I.E...

Go little Big super Hero!

Hallo, I know there are several of us with this kind of mutation. My genotype is very rare. 2789+5G->A + E585X. I tried to enroll in the Denver study with Kalydeco (Ivacaftor) but I'm form europe, then it's too far from here. And no one would pay for the trips. I'm 31, Pancreas Suff. MSSA and...

Well then i m slightly different. I have it coupled with a severe mutation. Schloride at diagnosis on birth 87. I improved in last 12 months my fev1 from 89 to 108 thx to jogging. Wow. Now steady at 104. I m 31. After 3 yrs of Mrsa i decided to use no abx and managed to use it just 5 times. Mrsa...

I have a lot of papers regarding this mutation. Since I do this as a job too. There 2 siblings living in the late 60s with this mutation. And a study in France in which this mutation and 3849+10KbC mutation were studied in large groups of patients. (This study shows exactly what you said about...

Fev1? Why don't you try Kalydeco? Arent you eligible?

How are you? I read from your profile your mutation is: 2789+2insA, I Think it's slightly different. I'm 31 and doing quite fine.. no PA, some Hemoptysis. MRSA coming and going. FEV1>90%. Some GI problems.

Just wodering who has this allele. I have it aswell as a Stop class I mutation.

I guess that they will finally be able to test remotely according to this trial results. They are in discussion with FDA and EMA on what are the biomarkers for the activity of kalydeco on residuals. Residuals usually have a better decline in Lung function and fewer esacerbations or related...

Let us know something as soon as you can. I'm almost in your same condition. Screened at 3months, residual cftr mutation (2789+5g->A), sChloride at screening 87. age 31. I think I'm slightly pancreatic sufficient since I don't get Creon and gain weight. But Dr Stclaire told me i couldn't fit in...

Actually those mutations are among class IV and V (and some Class I splicing). 1717 mutation is a Class I splicing mutation. I think Pancreas sufficiency is a marker for eligibility to this study. And it is cause by the association between 1717 and V520F mutation. Inclusion criteria are...

I know of 2 for sure. One offlabel. One in the residual cftr function clinical trial. No news at the moment. I ll report any news coming from the girl offlabel on cftrsplicing.com as soon as possible

It's quite normal. It's been the same for me. for more than 15 years. Then mucus quantity improved and now it starts at about 11am and it calm down at 16-17 in the afternoon. at 30 years it's not that bad. I think this is related to hormones. (maybe corticosteroids?) or just because mucus...

Rest in peace. Protect all of us

Yes it means Any of those 3 criteria. StClair answered me back via mail and said that recruitment will go on for 6 months. Study is not full. What do you think about next? Will there be a phase III study involving all residuals? or will this be enough to expand labels? Will a 20mmol decrease in...

especially coupled with a severe one. I think time will tell

Double post (http://forum.cysticfibrosis.com/threads/35614). Anyway great news. I think this will open the doors to test it on more and more mutations. I believe stop mutations too (class I) can have some benefit by Ivacaftor. Especially if the stop codon happens after R Domain. And I hope...

I swear I didn't know before. http://clinicaltrials.gov/ct2/show/study/NCT01685801 Trial for mild conductance and splicing (residual) started.

What do you think about this? Here are my thoughts. http://www.cftrsplicing.com/page.php?7 Any hints will be usefull.