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Re: Re: stop mutations -

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Hi ,

I don't understand - from the article I read about

PTC124, the pill seemed to work on any mutation that

was a stop. In fact, it works on other diseases where

stop mutations caused a problem. There was no

indication in the article that it would work on some

stop mutations, but not others.

How did the doctor describe the interaction of

the drug on the mutations to you to make you

believe it wouldn't work on all stop mutations?

C

Mommy to Mick and Alli, 4 yo twins wcf

--- dwson2 wrote:

> Oh No. I was hoping it did mean that it would work

> for all stop

> mutations. Just our luck, Zach has a rare stop

> mutation. I was so

> hoping he caught a break. Only time will tell I

> guess.

> Sara

>

> I don't think that the med would apply to most

> splice mutations and

> maybe not even to all stop mutations? Just from my

> understanding of

> what the doc explained.........

> >

>

>

>

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Well, it was about a month or so ago that he mentioned that it was " in the

pipeline " for the med to be used in class one mutations and he seemed like he

was unsure if it would even work on all stop mutations for CF (something about

where the stop is in the chain). We did not discuss the stop mutations at

length because 's mutation is a splice mutation, and I was more concerned

with if it would work on splices........ The whole thing was a bit confusing to

me actually but it seemed more hopeful for stop mutations than splices.

Re: Re: " stop " mutations -

Hi ,

I don't understand - from the article I read about

PTC124, the pill seemed to work on any mutation that

was a stop. In fact, it works on other diseases where

stop mutations caused a problem. There was no

indication in the article that it would work on some

stop mutations, but not others.

How did the doctor describe the interaction of

the drug on the mutations to you to make you

believe it wouldn't work on all stop mutations?

C

Mommy to Mick and Alli, 4 yo twins wcf

--- dwson2 wrote:

> Oh No. I was hoping it did mean that it would work

> for all stop

> mutations. Just our luck, Zach has a rare stop

> mutation. I was so

> hoping he caught a break. Only time will tell I

> guess.

> Sara

>

> I don't think that the med would apply to most

> splice mutations and

> maybe not even to all stop mutations? Just from my

> understanding of

> what the doc explained.........

> >

>

>

>

-------------------------------------------

The opinions and information exchanged on this list should IN NO WAY

be construed as medical advice.

PLEASE CONSULT YOUR PHYSICIAN BEFORE CHANGING ANY MEDICATIONS OR TREATMENTS.

------------------------------------

------------------------------------------------------------------------------

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Guest guest

Hi ,

Thanks for explaining that to me. I may try to get

more information on the researchers doing the

phase 2 trials and ask them if they've had any

luck with splice mutations, or if they've even

been looking at that, and also if there are any

stop mutations that would not respond to the drug.

hugs,

C

Mommy to Mick and Alli, 4 yo twins wcf

--- ANDREA FITTING wrote:

> Well, it was about a month or so ago that he

> mentioned that it was " in the pipeline " for the med

> to be used in class one mutations and he seemed like

> he was unsure if it would even work on all stop

> mutations for CF (something about where the stop is

> in the chain). We did not discuss the stop

> mutations at length because 's mutation is a

> splice mutation, and I was more concerned with if it

> would work on splices........ The whole thing was a

> bit confusing to me actually but it seemed more

> hopeful for stop mutations than splices.

>

> Re: Re: " stop " mutations -

>

>

>

> Hi ,

>

> I don't understand - from the article I read about

> PTC124, the pill seemed to work on any mutation

> that

> was a stop. In fact, it works on other diseases

> where

> stop mutations caused a problem. There was no

> indication in the article that it would work on

> some

> stop mutations, but not others.

>

> How did the doctor describe the interaction of

> the drug on the mutations to you to make you

> believe it wouldn't work on all stop mutations?

>

> C

> Mommy to Mick and Alli, 4 yo twins wcf

>

> --- dwson2 wrote:

> > Oh No. I was hoping it did mean that it would

> work

> > for all stop

> > mutations. Just our luck, Zach has a rare stop

> > mutation. I was so

> > hoping he caught a break. Only time will tell I

> > guess.

> > Sara

> >

> > I don't think that the med would apply to most

> > splice mutations and

> > maybe not even to all stop mutations? Just from

> my

> > understanding of

> > what the doc explained.........

> > >

> >

> >

> >

>

>

>

> -------------------------------------------

> The opinions and information exchanged on this

> list should IN NO WAY

> be construed as medical advice.

>

> PLEASE CONSULT YOUR PHYSICIAN BEFORE CHANGING ANY

> MEDICATIONS OR TREATMENTS.

>

> ------------------------------------

>

>

>

>

>

------------------------------------------------------------------------------

>

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