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I have just received the genetic results for Preston. They have found that he is missing Exon 44. I have been doing some research regarding clinical trials being done, but everything I am finding is basically out dated. Does anyone one know where I could find more current information?

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My son has also exon 44 deletion. The study of Sarepta has still not started recruiting. See the link https://www.clinicaltrials.gov/ct2/show/NCT02500381?term=NCT0250038...

Bad news is that this study is going to have a 96 weeks placebo.

Hey,


my son also have exon 44 deletion. My doctor say that this mutation is mild type of DMD. I hope its true. My son was 2 in september. He is doing ok, he have a lot of anergy. I think this is a good sign :) I have writen to Sarepta too and i didn get a answer. I heard if now exon skipping 51 is approved, every next exon skipping drugs (exon 45 and exon 53) will be on the market before we think... They call DOMINO EFFECT. So i hope that in 3 years they will be seeking for approval.


Wish you all the best and hope we will save our sons!!!

Olá, meu filho está com 9 anos e tem deleção no 45, estão a recrutar nos EU, alguem me sabe dizer se esta para breve em outros países?!

Vivo em profunda anciedade, pois por enquanto ele ainda anda e tem os requesitos todos....

Hey,

So i have question about clinical trial of exon skipping 45. If Placebo-Controlled trial will last for 96 weeks, but when i went to clinical trials.gov it is writen A Double-Blind, Placebo-Controlled, Multi-Center Study With an Open-Label Extension.
Is that mean that trial will last for five years? So it could reach market in 5-6 years??? 

Estimated Study Completion Date:
June 2021


Estimated Primary Completion Date: September 2019 (Final data collection date for primary outcome measure)
 
I am realy confused...

Thanks for the reply.

That's correct this is a 96 week placebo trial. So for almost 2 years you give IV to your child not knowing if they are getting medicine or not. Bad on our children. After 96 weeks the open label will start and will be completed in 2019. Sarepta is being very cautious after their struggle with the approval of the first drug. But PPMD needs to intervene to reduce the placebo phase. The drug should be compared with the natural history. My son has 44 deletion but I am confused whether to enroll for this study or not.

Hey,


thanks for reply Rahul. Yes i understand about placebo phase, but this need to be done because they can compare effect in the drug. it is truth that last for too long, but maybe FDA Will approve drug sooner because 96 week long placebo trial. I really hope it Will be on market by the 2020 or even sooner!


Another think, i went to therapist- functional and evolutionary medicine in my country who is learning from one of the best therapist in the world know as Chris Kresser he is from Carlifornia and we talk about healthy food can slow down a muscle progression and he advice me some vitamins for my two year old son :


- kurkumin
- Q10
- vitamin C
- omega 3 - fish oil
- epsom salt to bath
- nac px -
- green tea extract

If you check all this supplements you Will see thath they have a good effect on the disease. Rather  say i hope soo.

I hope that i do not write too much, I  yust want to help :) 

Have a nice day.

Hello,

My son is 5 and has 45 to 52 exons deletion, I'm currently trying to get him enrolled on clinical trials at Children's Hospital in Dallas, TX. Even though I've not received a formal confirmation, I'm in touch with trial's coordinator to see what suits him best (depending on his age and what trial is also undergoing right now).

God bless all,

Antonio

This looks promissing,  I think year 2020 Will be big !!! We can have two therapy  for deletion of exon 44 on the market.

Finger cross.

http://www.daiichisankyo.com/media_investors/media_relations/press_...

and

https://en.wikipedia.org/wiki/Ezutromid

So this two therapies not for duplication exons?

Even Ezutromid drug is not for duplication exons?

Sanja Kogelnik said:

This looks promissing,  I think year 2020 Will be big !!! We can have two therapy  for deletion of exon 44 on the market.

Finger cross.

http://www.daiichisankyo.com/media_investors/media_relations/press_...

and

https://en.wikipedia.org/wiki/Ezutromid

Hi Sai,

Unfortunately, in your case, exon skipping is not an option.  But Ezutromid is!!! It is not mutation specific, if all goes according to plan Ezutromid can reach market in 2020.

 There is many therapies on clinical trial who Will help all boys regardless of the mutation :)

Thank you Sanja

Sanja Kogelnik said:

Hi Sai,

Unfortunately, in your case, exon skipping is not an option.  But Ezutromid is!!! It is not mutation specific, if all goes according to plan Ezutromid can reach market in 2020.

 There is many therapies on clinical trial who Will help all boys regardless of the mutation :)

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