Premature Stop Codon

Comment

Comment by Clare Harper on January 26, 2012 at 12:40pm

ATALUREN :any parent out there who can provide an update on how their son is doing on Ataluren , for those of us who are waiting?

Comment by Susan Parzymieso on January 26, 2012 at 7:04am

We have our 3 year old on 100 mg of CoQ10. He definietly has more energy and can now jump and get both feet off of the ground! At his most recent preschool evaluation, he scored in the "meets expectations" range on everything gross motor except for standing on one leg and hopping!

Comment by Clare Harper on January 26, 2012 at 6:05am

Hi Ruth I do, lewis is also 6, i started low , 300mg a day and have gradually moved up to 500mg. I think it helps, particuluarly with his speech, and energy .When i ran out , Lewis was without idebenone for 2 weeks as i get it shipped from the states. After about a week without it his speech impediment came back and he was not as energetic. He is now back on it and after about 2 weeks his speech has improved and he is so full of energy.Again that could have happened for another reason too.It is not harming him and in absence of all else it is worth giving to our boys.

Comment by Ruth Le Gal on January 26, 2012 at 5:48am

Good morning!!  Does anyone out there give Idebenone to their stop codon boy??  And has it been of any benefit??  We are planning to start our son Leo age 6 on Idebenone in the next few weeks.  I'll let you know how we get on.  Ruth

Comment by Clare Harper on June 29, 2011 at 11:08am

i have searched for any updates on Ataluren,can any one shed any light,seems to have gone underground!!.the extension trial is current in the states,when is it due to complete,is there any interim updates??

Comment by Tracey Hartz on January 9, 2010 at 7:30pm

Thank you so much, Teresa. It sounds like they are not waiting for the 2b extension to be done before they apply to the FDA, that is what I was wondering about. I just get so anxious waiting, which I am sure you all can sympathize with.

Comment by Teresa Wood on January 9, 2010 at 6:32pm

I was told the early part of 2011 it would be released. I am including the following response i received from Diane Goetz who handles the PTC trials:
Thank you for your interest in ataluren (PTC124). What you may have seen on the DuchenneConnect website is the Phase 2b extension trial which, by definition, is only open to those boys who were in the original Phase 2b trial. That trial is ending next week when the last patient will move from the original to the extension trial, at which point the trial will no longer be listed as recruiting.

There is another trial just starting for non-ambulatory boys. By your son's age I am guessing that this is not the trial you are referring to.

We expect to have results from the Phase 2b trial in the next quarter and, if they are positive, we plan to apply to the FDA for approval next summer and would hope to have their decision by the end of 2010. If ataluren is approved, we would expect it to be available in the first half of 2011.



I hope this information is useful. Please feel free to contact us again if you have additional questions. I am not in the office today but will be back in tomorrow and Friday.

Comment by Tracey Hartz on January 9, 2010 at 5:41pm

I was reading the information on clinicaltrials.gov and it says they are going to follow the boys in 2b extension for 96 weeks, and that the end date is December 2011. So does that mean ataluren WON'T be approved this year? Does anyone else have any insight?

Comment by Teresa Wood on November 7, 2009 at 10:12pm

My son is 7 and has a premature stop codon. I am excited about the PTC 124 release. But like everyone else it can't come a moment too soon.

Comment by Cheri Gunvalson on September 19, 2009 at 11:12am

There is plans for a nonambulatory PTC 124 (ataluren) in 2010. As you all know the drug is scheduled to be approved in 2010. The only reason they would be planning a trial for the nonambulatory is that it will be approved only for the ambulatory which is sad as muscle is muscle, if it helps the arm muscles of the ambulatory boys it will help the nonambulatory. This will have adverse effects for the nonambulatory for future drugs as it is not cost effective to do trials on the nonambulatory. This is very sad for the older boys. Many drug companies get around this by releasing the drug to the FDA for expanded access but PTC is unwilling to do so. Cheri, mom of Jacob 18 yrs old with a premature stop on exon 5

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