We're all Joining Jacks fight against Duchenne Musculare Dystrophy, are you?

Frustration is building

Frustration is building

At the moment, the current internet craze seems to be people posting pictures that make them happy onto their Facebook page. When my turn came, I struggled to choose just five, because there are so many pictures of my boys that make me smile and laugh - but doing this also made me think about the pictures that I struggle to look at. Below is photograph that I can barely glance at. It was taken a week before Jack was diagnosed with Duchenne.


Whenever I am going to a meeting in London I usually sit on the train preparing, but after a while my mind will wander and I will end up scrolling through the many family snapshots on my phone. And whenever I come across this image, I falter. I can’t look at this picture because it reminds me of the last time I was actually care-free. I used to complain about being stressed, having problems and working too hard but really, I didn’t know what I was talking about.

On Saturday night travelling back from the Action Duchenne conference in London, I began scrolling again. I’ll be honest and say I left the conference with mixed feelings. I am grateful to Action Duchenne for hosting the conference, as it’s a good opportunity to network and find out more about the latest scientific developments. But a voice in my mind kept asking, have things really moved on significantly since last year? The answer is no. I have come to the conclusion my clock ticks faster and with more urgency than that of researchers, clinicians, pharmaceutical companies and regulators.         

I was proud to see the Joining Jack logo, and the logos of so many of the charities that I actively collaborate with, on the different presentations that were given throughout the conference. But the truth is that it doesn’t matter, as my son still doesn’t have access to an effective drug. We are still in a position where our clinicians can’t actually prescribe an effective drug.

The reason I’m writing this blog is because of some of the Twitter conversations I have had since this Mosaic Science article was published this week, that we shared on our social media feeds:  http://goo.gl/M4EdXD

I wrote on Twitter that I felt like I was failing my son because he isn’t on a trial or able to get access to an effective drug, and someone questioned whether it was right for me to put my child on a trial. Well here’s my thoughts;

I don’t think people actually appreciate the position that parents and the adult members of the Duchenne community are now in. Treatments are actually dangling in front of us but we can’t grasp hold. Please believe me when I say I am frantically trying to grab hold of these! I desperately want a life line for my son.

Through social media we’ve seen children on trials benefiting from drugs. I’ve watched over the last two years as the children of some my American friends benefitted from a drug called Eteplirsen. Eteplirsen will treat 13% of the Duchenne population. Up until two days ago, only 12 children had had access to the drug in the last three years. I was delighted when I saw my friend’s son Austin being given his first dose. I can’t put in to words the amount of advocacy that has had to happen within our community to get this young man, and the others that will follow him in the coming months, onto Eteplirsen. The words blood, sweat and tears come to mind.


Seeing this beautiful and momentous picture of Austin is bitter sweet for me because Eteplirsen won’t help Jack. Eteplirsen is an exon skipping drug. Different variations of this drug will have to be developed to treat each different mutation that can occur in the dystrophin gene and cause Duchenne. And Jack has a rare mutation. He falls just outside of the next 20 exons that Sarepta, the company developing Eteplirsen, plan to develop – they are developing the drugs that will help the most common mutations first. He’s number 23 on the frequency list. So it’s highly unlikely this treatment will come in time to help him. I can’t tell you how hard this is to accept. An exon skipping drug could be made for him, I actually know it exists (at the conference, his exon mutation was shown as an example of an exon that skips very efficiently), but we would need platform approval and for that dystrophin would have to be accepted as the surrogate end point. Because of the current regulatory requirements my son and his exon are commercially unviable!  


The drugs that are closest to getting approval won’t help him because of his genetic mutation and age. Even for those they will help, how long will it take for Eteplirsen, Drisapersen and Idebenone to get Accelerated Approval or Conditional approval? And then once they have gone through the approval process or been granted conditional approval like Translana, how long will it take to get them available on prescription? The existing approval mechanisms, even in their accelerated forms, aren’t right for Duchenne Treatments.

 I heard parents asking at the conference about the different drugs that are being developed. ‘How long will it be till this drug will made available/brought to market?’

‘10 years???’ seemed to be the standard answer of the researchers.

You could see every parent on the inside (myself included) saying ‘But we don’t have 10 years’.  However I do believe by funding the right projects, by making sure the best people in our community are involved in the projects and with early interaction with regulators it can be earlier.      

But for now the only way I see for my son to ever get access to a drug is by him taking part in a trial on some of the small molecule drugs being developed to treat all.

The problem is that at the moment he doesn’t meet the entry criteria for any of the trials. For example, he’s too young to be considered for the Tadalafil trial. In fact, most boys in the Duchenne community don’t meet the entry criteria for the trials that are being conducted. As the majority of the boys in the Duchenne community are non-ambulant (they can no longer walk) they don’t meet the entry criteria of being able to perform what is currently our only validated end point - the six minute walk test. One priority of our community has to be to develop better endpoints (such as dystrophin production itself as an endpoint, rather than whether or not the boys can walk a certain distance in six minutes) for the non-ambulant population, or else we won’t have greater trial inclusion. The boys who are non-ambulant are actually in greater need of quicker access.

In addition, most trials are placebo controlled and were he to be accepted onto one, there is every possibility that Jack could draw the placebo! I can’t understand why, when there has been a great effort within our community to gather natural history data, regulators still want to see placebo controlled trials. Why are we making terminally ill people take a ‘sugar pill’? And then documenting their inevitable decline? I actually think it’s sick!

Pharmaceutical companies aren’t getting trials up and running quick enough. I forever seem to find myself waiting for news of when Summit’s trial for SMT c110 will start. It’s been almost a year since the start of their phase 1b study and because of unexpected results they will have to run the 1b again. We are a year on and we still haven’t progressed. How many boys have lost the ability to walk, to hug their parents, or even died, over the past year? There is an urgent need to improve our clinical trial infrastructure and make sure it is easier to start trials.

I often sit and think about the risk/befit equation with putting Jack on trial. I consider myself to be fairly well read about current Duchenne research and if the pre-clinical data is good I don’t think I will hesitate putting Jack on trial (if we are lucky enough for him to meet the entry criteria and they manage to get a trial up and running!). Yes there are risks involved, but for me the greatest risk is doing nothing.

We desperately need increased flexibility from our regulators and better right to try laws. We needed access to treatments yesterday, not tomorrow, the day after, or in the coming months. We need for the merry go round of blame to stop between the researchers, clinicians, pharmaceutical companies, parents, charities and regulators.  Now more than ever we have to come together as a community to help these boys and men have the life they deserve.

Because for the first time ever there is real hope on the horizon. We just need to make this happen.

Please stay with us, and help us make more pictures that will make you smile.

P.S. EMA please respond to the comments we made on the guidance you are developing for assessing medicinal products for Duchenne. We submitted in August 2013. We have now been waiting over a year!





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