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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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hi

my son has deletion on exon 46,47.currently i contacted prosensa and they replied by following email.i sent it to you, hope be useful.

......... 

Although we are very hopeful that exon skipping will slow down or potentially stop the disease progression, this is currently still being tested in placebo-controlled clinical trials and not yet proven to be safe and effective. What we hope to achieve is to slow down or potentially stop disease progression.

 

Your son’s physician will decide if and which one of the compounds is suitable, if they become approved. Generally, in case of a mutation/deletion of exons 46 and 47, an exon 45 skip could potentially help (PRO045). You could consult our website for some general information about the exon skipping technique at http://prosensa.eu/technology-and-products/exon-skipping or for the Frequently Asked Questions about the application of exon skipping at http://prosensa.eu/duchenne-muscular-dystrophy/faq.

 

We are currently working on compounds that will target six different exons. PRO051 (which is being developed together with GSK as GSK2402968) that targets exon 51 and PRO044 that targets exon 44 are in the clinic. PRO051, the lead compound, has recently started in phase three clinical trials. PRO045, 053, 052 and 055 targeting exons 45, 53, 52 and 55 are in early research. GSK has the option to develop some of the other compounds with us once they have passed early clinical trials.

 

The development of PRO045 and PRO053 is slightly ahead of PRO052 and PRO055. It is difficult to predict how fast the development will go but we plan to be in clinical trials with PRO045 and PRO053 in 2012 and with the other two sometime after that.

 

If you decide together with the physician that cares for your child that you are interested in your child participating in clinical trials, he should register in the national DMD registry and/or the Duchenne Connect registry. More information can be found on the following website: http://www.treat-nmd.eu/resources/patient-registries/national-regis... and https://www.duchenneconnect.org/. These registries are increasingly used to identify patients that are eligible for clinical trials.

 

Each trial will be posted at the website www.clinicaltrials.gov as soon as the study design is finalized and all the required approvals of authorities and ethics committees are granted. To find our trials on this website, you could use e.g. ‘Duchenne and Prosensa’ as a search term.

 

Prosensa does not play a role in the process of selecting individuals for participation in clinical trials. The selection of patients for participation in clinical trials is strictly between the investigators at the trial site and patients (or their parents). The investigators are responsible to select patients for the clinical trial based on eligibility, suitability and the physicians’ best judgement on the best interest for your child and will always select the most appropriate study for the patient.

 

It is important to realise that clinical trials are not a treatment or a cure. Trials are designed to test for toxicity and side effects and/or to demonstrate whether the drug will have the desired effect.

 

Recently, there have been advances in supportive care for Duchenne. TREAT-NMD has published standard of care guidelines that try to help Duchenne patients and their families to ensure they receive optimal care: http://www.treat-nmd.eu/care/dmd/dmd-family-guide or http://www.treat-nmd.eu/care/dmd/family-guide-translations.

 

In addition, there is information available on the website of the U.S. Duchenne patient organization Parent Project MD at http://www.parentprojectmd.org and various other patient organizations. To find patient organizations in your geographical region you could use TREAT-NMD’s overview of DMD patient organizations at http://www.treat-nmd.eu/dmd/patient-organizations.

 

I hope this information is useful to you and wish all the best to you and your family.

Hello,

 

My 7 year old son has the exon 44 deletion. He was diagnosed this past May. How is Preston doing? I have been trying to find out information about Exon 45 skipping. Looks like it is in pre-clinical trials so hoping that exon 51 goes through 45 will be close behind.

one more thing, I saw on one of your post about Preston's leg locking up. The same thing has happened to my son Evan twice. We have something called a Nada chair and have him wear it for 30 minutes every night...it goes around his back and the straps go around his feet. I works great for streches. We use it with leg imobilizers. Seems to work great for him. As long as we keep up with that he has not had that issue. Please let me know if you have any questions.

My son - Aritra , also having deletion of Exon 44 , can you help me, about  any  clinical  trial  of  PRO045.

Hello Jayanto,

How are you. My son is 8 with the same deletion. How old is Aritra? There is a phase IIb recruiting in Europe. Here is athe link for the only current clinical trial I am aware of the Exon skipping 45 http://clinicaltrials.gov/ct2/show/NCT01826474?term=duchenne+muscul... All the site listed are in Europe right now but hoping they will have some in the U.S. too.

I am hoping that Exon 45 skipping will start to move a little faster since they are reporting such positive results with 51!!!

Wish you and your family the best. Please keep in touch.  

I am  fine ,  the  age  of  my  son  is  6 .  How  are  your  son  is  doing.  Can  you  give me  any  Information how much  time  will  it  take  to  get  commercialize ,  so  that  it  can  be  available  in  INDIA  Also.

Wish you and your family the best.

My son is doing ok. In the past year he has been having more problems with stairs and seems to not be able to walk as far but still doing really well considering. I really wish I had the answer. Seems from what I am reading Exon 51 skipping is moving along and hope that once 51 gets approved 45 will not be long after. I wish I knew if the FDA will require the full process that 51 is going through to get 45 approved???

Hi  Bretsik,

What  are  the  other  treatments   your  son  is  availing  in  your  country.  can  you  please  update.

Right now there is no treatment but there is a lot of hope in research. Many trials going on...I hope to get my son in one...just watching for the right one for us. Is your son on steroids? Also Facebook is a great resource. It has really helped me keep up with things that are going on and what other parents are doing. If you are on please add me as a friend.
 
JAYANTO KUNDU said:

Hi  Bretsik,

What  are  the  other  treatments   your  son  is  availing  in  your  country.  can  you  please  update.

Surely  I  am   adding  you  as   friend  in   FACEBOOK

Hi  Bretsik,

can  you  please  send me  the  friend  request  in  the  following  email  Id

jayantokundu@gmail.com.

Dears

i read this post and i have same case as you, my son has exon 44 deleted:( 

although the post is old but i wanted to share with you that i found premuch same info that there is trials on deleting skipping exon 45 in order to stop the disease affects to get worse! but still in phaseIII, 

you can see below site,

https://www.sarepta.com/community/clinical-trials

https://clinicaltrials.gov/ct2/show/study/NCT01027884?term=idebenon...

iam trying to contact them about updates but still didnt get an answer.

do anyone of you has update?

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