This discussion is to hopefully stay connected with other families of boys who participated on the Phase 2a (38 boys in three sites), and to communicate with all the DMD community the progress of our boys while on PTC124.
My son Daniel Castro (10 years old) participated in the 28 days clinical trial of PTC124 along with other 37 boys a couple of years ago. Since, we have been patiently wating for the extension study. Thank God as of last week, we got the confirmation from Dr. Finkel's team in Philadelphia that everything is ready to go, and they are asking ALL the families of the boys who participated to request the weeks in which they would prefer to go to start the new study. If you are one of those families and you haven't gotten in contact with your hospital in which you did the original trial, please contact them ASAP to get this going for our boys. Great news is that our boys will be taken PTC124 for almost 2 years. They will need to get muscle byopsies again, but that is an small price to pay for the potential benefit we all expect to get out of it.
I encourage parents and families in general of these boys to use this discussion to talk about anything related to the development of this new study, and to report progress, complications, experiences, syntoms, differences noticed while in treatment etc. I think it would be good not only for those 38 families, but hopefully for ALL the kids with non-sence mutation who are participating on the new 2b study and even for all other DMD kids with other type of mutations since PTC therapeutics is working on a new medicine for ALL the cases of DMD.
God bless you ALL.
Jose, Angie, Daniel and the Castro Gang.

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hello

i am from france; may son will begin to take the PTC 124 in mid october; he had nearly finished the included tests

ibest

françoise
Mixing up PTC-124 or "stirring up the Dark Side"

Ok, Jonathan has been on the drug for a week now; With cold Milk or cool water it just will not mix in well. The mixing directions suck and it has been a ####-#####ing time getting this stuff to mix up. It's like trying to mix Styrofoam balls into solution. UNTIL today, this evening actually.

Here's what I think works pretty good ( though I haven't run this by anyone yet).
- take a couple of tablespoons of warm about 80 degrees water. stir slowly for about a minute.
- take 2 or 3 ounces of warm milk at about room temp or a bit more NOT HOT now mix that in.
- Pop, 90% mixed no clumping, no frothing

It still tastes weird ( yes I licked the spoon) but it mixes much easier ( which is Way Cool ) and Jonathan can actually drink less than a quart of milk to get the complete dose ....
Oh, yeah, I think it gives him gas;

Michael
Thanks for sharing Michael,
We go to Philly next week for our pre-screening and will probably start in November with the drug. I'm not sure why they think this stuff tastes just like Vanilla. I remember my son having to choke it down two years ago. Hi Francoise, Good luck with the trial! Keep us posted how it goes.
Joanne

Michael said:
Mixing up PTC-124 or "stirring up the Dark Side"

Ok, Jonathan has been on the drug for a week now; With cold Milk or cool water it just will not mix in well. The mixing directions suck and it has been a ####-#####ing time getting this stuff to mix up. It's like trying to mix Styrofoam balls into solution. UNTIL today, this evening actually.

Here's what I think works pretty good ( though I haven't run this by anyone yet).
- take a couple of tablespoons of warm about 80 degrees water. stir slowly for about a minute.
- take 2 or 3 ounces of warm milk at about room temp or a bit more NOT HOT now mix that in.
- Pop, 90% mixed no clumping, no frothing

It still tastes weird ( yes I licked the spoon) but it mixes much easier ( which is Way Cool ) and Jonathan can actually drink less than a quart of milk to get the complete dose ....
Oh, yeah, I think it gives him gas;

Michael
I'll add a couple of things to my husband Michael's post. Just using water not matter what temp makes Jonathan gag and gives him gas.

Michael said:
Mixing up PTC-124 or "stirring up the Dark Side"

Ok, Jonathan has been on the drug for a week now; With cold Milk or cool water it just will not mix in well. The mixing directions suck and it has been a ####-#####ing time getting this stuff to mix up. It's like trying to mix Styrofoam balls into solution. UNTIL today, this evening actually.

Here's what I think works pretty good ( though I haven't run this by anyone yet).
- take a couple of tablespoons of warm about 80 degrees water. stir slowly for about a minute.
- take 2 or 3 ounces of warm milk at about room temp or a bit more NOT HOT now mix that in.
- Pop, 90% mixed no clumping, no frothing

It still tastes weird ( yes I licked the spoon) but it mixes much easier ( which is Way Cool ) and Jonathan can actually drink less than a quart of milk to get the complete dose ....
Oh, yeah, I think it gives him gas;

Michael
I'll add to Christine and Michael's comments, our experience. Tim has also been on just over a week. The only way we have found to mix the PTC is with a battery powered milk frother. The downside to this is it creates frothy milk but it does disolve the powder. Tim gags on the taste most of the time. It does also seem to give him a stomach ache and looser stools. The PTC has completely solved any constipation problems that existed before. We have not seen any energy changes yet but I guess it is still too soon. If anyone else has any ideas regarding mixing or the taste we would love to hear any suggestions.

Ellen
How much of the powder do the boys have to take in the extension study?

Our son is quite lucky in the 2B study. He only has to take one A packet in the morning, one A packet midday and two B packets at night. With so little powder we really don't have serious mixing problems. It takes more liquid at night with the two packets but he is getting used to all the liquid and has never minded the taste. We stir it - he drinks some - we stir again - he drinks and so on. Then we add more water as needed. He has been taking it for more than 6 weeks. Jacob prefers it with water.

It would be nice if it were put into a capsule. It would be much faster and more convenient when you have to take it when you are not at home.
When my son Nick was in the original 2a study, we had to measure out the powder in an alligator-shaped spoon. He hated it. I'll tell you, though, that if we can give the boys something they can swallow, in lieu of an injection or multiple injections, that's a postive. The multiple blood draws the boys in the study must go through are bad enough--imagine if our only viable therapy involved three needles per day. I count our blessings. :) (I must share that I've just finished Randy Pausch's The Last Lecture and refuse to complain about anything we bear as parents of DMD boys.

Angela Ryan said:
How much of the powder do the boys have to take in the extension study?

Our son is quite lucky in the 2B study. He only has to take one A packet in the morning, one A packet midday and two B packets at night. With so little powder we really don't have serious mixing problems. It takes more liquid at night with the two packets but he is getting used to all the liquid and has never minded the taste. We stir it - he drinks some - we stir again - he drinks and so on. Then we add more water as needed. He has been taking it for more than 6 weeks. Jacob prefers it with water.

It would be nice if it were put into a capsule. It would be much faster and more convenient when you have to take it when you are not at home.
Yeah, Gretchen & Angela - Jonathan takes the powder by is a foil packet ( sachet). It's done by weight so because Jon is 15 he takes a 1000mg in the morning, same for lunch then 2 + a 125mg packet at night. But mixing this "magic powder" to get every last particle into solution is un-nerving. so the warm water & warm milk helps. Good question though, why the heck couldn't the boys take it as a pill form. When we were in the prelim study, the drug was a powder in bottles that had to be refrigerated ( what a pain that was ) and of course save the bottles and return them... Like what were going to sell this stuff on the street??? Anyway after almost 6 years of waiting for this to come to fruition, whatever it takes, it takes. We've kept Jonathan walking, and he's done a lot himself to keep active; Too bad he was not younger, but the alternative; well; we'll go with whatever we have to do.
Hello all, just an update on my son's status on the trial. We finally are going to Philly next week for the muscle byopsy and are scheduled to go back on Dec 3rd and 4th to start taking the medicine. As we progress in this process i will post here my observations.
I am wondering for those who are already on PTC124 for a while... has there been any improvements in energy levels, strenght......? any side effects have been noticed? Could you guys post your observations until now? That would be greatly appreciated by the families behind of you in the process.
Thanks
Hello

my son is now on the trial for 6 weeks, he is on phase 2b, so may be on placebo

we 've seen digestiv problem (diarrhoa mostly)
i don't find any improvment in strenght; the only thing , may be he walks less on the toe and his muscle are may be softer

best

françoise
Thanks Ferre, lets hope your son is taking the medicine (likely) since he is showing mild side effects. Hopefully the longer he is in it the more improvements you notice on him.
As far as we are concerned i would like to report that we got Daniel's byopsi done in Philly last week, and as of Dec 4th he should start taking the medicine. One great thing i haven;t heard any one talking about here is the fact of an additional study we are exposed to which is related to the PTC124 and it is conducted by the University of Florida in Gainsville. It is basically a pararell study while taking PTC124 in which they take MRIs to the kids and therefore they can see the amount of damaged tissue in the muscles and hopefully as they take the medicine the MRI could show improvement in the tissue. I think this is great because it might give a very real evidence of thge effects of PTC124 in the boys taking the medicine. Anyways i still would love to hear from those families already in the extension study and taking the medicine to report if they have experience any improvements, side effects etc.
Thanks and God bless
Jose
Hi Ferre,

My son started the 2b on 20th november.He is taking his packets and we hope its drug but day 2 has shown no side effect.As far as mixing goes there is no real issue and he has not said much about the taste.We will wait and see how he does on this compound for next few months and if he improves.

Thanks Neeraj

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