Little's Life

Little's Life

Wednesday, July 10, 2013

Hope for Little

Good things continue to move forward over in the Prosensa labs.

You may remember a little about exon skipping (and my sweet train track drawing) and how it could extend Andrew's life, but if not - or you just need a refresher, check out these two posts I wrote a while back before you continue on with this one:

Remember how I said that each different genetic mutation that results in Duchenne will require it's own specific formula/version of the drug to work it's magic on the boys?  Andrew has a deletion mutation in exon 45.  There is a chart that shows how to know what exon(s) need to be skipped for each mutation in my post above (building-bridge-part-2).  So Andrew could benefit from skipping either exon 44 or 46.  Well, this is from the Prosensa website:



IndicationCompoundDiscoveryPre-clinicalPhase I/IIPhase III
Duchenne Muscular Dystrophy (DMD) PRO044

Prosensa’s second product in development, PRO044, induces exon 44 skipping in the dystrophin gene and is intended for approximately 6% of all Duchenne Muscular Dystrophy (DMD) patients, including those with deletions of exon 43, exon 45, exons 38-43, exons 40-43, exons 42-43, and exons 45-54. The underlying chemistry and mechanism of PRO045 are similar to drisapersen. PRO044 is highly sequence specific minimizing the risk for off-target affects.
PRO044 addresses a separate sub-population of DMD patients and is currently in a Phase I/II study in Europe to assess the safety and efficacy of the medication for DMD patients with a mutation around location 44 in the DNA for the dystrophin protein. We expect to complete in the second half of 2013. PRO044 has been extensively tested in a series of cultured muscle cells from patients with different relevant mutations, and in the hDMD mouse model.
Details of the clinical trials, such as inclusion/exclusion criteria and trial sites, are posted on the website and all required approvals of authorities and ethics committees are granted. PRO044 has been granted orphan drug status in the European Union and the United States.

Yes, I've already cried about it.  You just can't know how huge this is if you don't have a loved one (or have something yourself that is as-of-yet untreatable) with a disease like this.  If you've never had to hear a version of the words "Your son isn't going to get better", then you get on your knees NOW and thank the good Lord in Heaven for blessing you with healthy children or children whose diseases are treatable, curable, or have ANY treatment/drug/therapy/surgery with a possible outcome of hope for your child.  Why?  Because Duchenne doesn't.  Duchenne is and always has been a death sentence.  But that may be about to finally change.

This drug therapy above, PRO044, is not a cure.  It will not take the DMD away nor will it prevent Little from deteriorating.  What it is, is hope.  Hope that Little and the others will not die as teenagers.  Hope that Little and the others will live to be 50+.  Hope that Little and the others will walk until they are 30+.  Hope that Little and the others will keep strong healthy hearts and breathe easily without ventilators and tracheostomies well into middle age.  Hope that Little and the others will be the first generation of Duchenne to beat the odds that are laid out before them.  A drug like this has the potential to rewrite the timeline that has always played out as the progression of this disease. 

I don't know when this drug will be available, but the fact that it is happening at all is just mind blowing.  Hopefully it will be ready before Little is in a wheelchair.  Even if it's not, he will still benefit from it and it still means everything I said above to the boys younger than Little with DMD.  Mister and I got to hold on to each other for a few minutes before he left for work today and really take in a moment of hope for our son.  There is much to be excited about this morning! 



  1. Praise the Lord! I am so happy to hear that they are making this type of progress on the very exon that Little needs!

  2. I hear you. my daughter, Ruby, has Spinal Muscular Atrophy & like other forms of MD, there's no cure. there is A LOT of energy and money going into treatments, as you know, and it does give us hope. it won't likely make ruby walk, but it might help & for that we are tears-falling-down-our-face grateful. happy, happy, happy for your news today.

  3. That is amazing! So happy to catch up reading your blog tonight! Prayers work and god works for us.....keeping the faith as this trial moves through it's stages!!!!!