Recent content by MissMe

I have one nonsense mutation that produces no protein and ends with an X. The other one is extremely rare and I found out that because of it's structure the mutation was thought to be a class one splicing mutation without any functioning protein and is probably a class V mutation in stead of a...

Hi! I would love to read more updates on people with residual function splice mutations on Kalydeco! I have a really rare residual function splice mutation, 4005+2T-c that would likely respond to a potentiator but since it's so rare it has never been included in any trial. I live in Sweden where...

You can try to send an e-mail to the adress on the cftrsplicing.com web site!

Hi! I just wanted to add an interesting detail that Vertex presented during the European Cystic Fibrosis Conference this year: “ Results presented at the meeting showed that treatment with ORKAMBI produces two effects on lung function – an acute improvement in ppFEV1 and a reduced rate of...

WOW! That's great news! They said previously that they only considered one of those 5 (which would have been strange) but now all 5 are approved. I hope they find a strategy to move forward with the rest of residual function splice mutations, there are so many different ones. It seems that they...

4005+2T->c splice mutation with residual function, PS and the second is an X-mutation. Wanting to try Kalydeco for my rarest mutation.

Thanks Jeannine for your efforts to inform about the EAP! I don’t know if the Vertex’ EAP’s are valid in Europe but knowledge about these modulator drugs is really lacking here… So these are only for investigational drugs? And for drugs that have been approved but not yet for some mutations or...

Hi! I just saw in another post here that you have one of the splice mutations that Vertex want to discuss label expansion for, the 2789+5G->A ? Do you know the name of the study you would participate in? I’m curious because I also have a splice mutation (pancreatic sufficient) but my mutation is...

Sarah, I totally understand you ask your self if those two hours a day, spend on treatments are really necessary. Does she have any mucus at all? If there isn't much mucus to evacuate from the lungs, I honestly don't see the point in doing 2 a day. This is off course something to discuss with...

That's a valid question Sarah. I don´t know the awnser though. I guess, your daughter might have the opportunity to keep her good lung function for maybe all her life, thanks to the fact that she has been given Kalydeco early in life, before any decline in lung function. She might not even need...

Here in Sweden we all more or less use what you call NAC in an efervescent tablet 1200 mg/day. I have used it since I was a child and I am now 44 and it is quite cheap too and sold in most pharmcies around Europe to combat colds (with lower dose). I cannot undertand why cf-doctors dont prescribe...

Wow! That sounds great if it could be used to administer IV-antibiotics! Do you think it would replace pick-lines and ports? I live in Stockholm but have never heard of it.

I´ve seen 2 of the plenaries so far and I agree it´s inspiring! I especially liked the speach by the young dutch researcher Gitte Berkers on organoid in vitro testing. I hope organoids will be used to speed up drug testing and research and help us with rare mutations to access drugs too.

Thanks Jeannine! Were you at the conference?

A lab in the Netherlands have found a new, reliable way to test drugs like Kalydeco in vitro, by growing an organoid of a patient´s intestine. If the gut reacts positively on the drug this could be a way to help patients with rare mutations (with residual function) to access drugs like Kalydeco...