This morning I kissed my 2 sleeping little boys as I crept around the house before the crack of dawn getting ready to leave them for 4 days, longer than I have ever left them before. And I have to admit my heart is a little anxious. But my reason for leaving is necessary. Because for the first time since Duchenne entered our family over 60 years ago, we have an opportunity to be a part of history, a part of a movement that will push through a treatment with the potential to help slow the progression of Duchenne in around 80% of patients (Eteplirsen will help 13% but follow on drugs will help up to 80%), to show that the patient voice matters and to let regulators see that following archaic practices of drug development for rare diseases simply does not work and is in fact immoral, unethical and unjust. Especially given that the drug in question has an impeccable safety record and has been endorsed by 36 Duchenne experts, clinicians who have seen thousands of Duchenne patients, to have shown significant efficacy in slowing the progression of Duchenne in all the boys who have been receiving the drug in trial for the last 4 years.

Around two thirds of Duchenne cases are caused by a deletion of one or more pieces of the Dystrophin gene, meaning that children with Duchenne cannot produce an essential protein, Dystrophin, which is vital for muscle repair. Without Dystrophin, every muscle in the body simply wastes away, leaving patients like Luke paralysed and at severe risk of heart and lung failure. Eteplirsen is the first in a pipeline of drugs designed to ‘patch over’ the missing piece, allowing the body to produce a small amount of Dystrophin, but a tiny bit of Dystrophin is all that is needed to slow muscle damage and to add years to the walking ability of children with Duchenne. Which in turn adds years to their life expectancy.

Eteplirsen won’t help Luke and even if campaigners are successful in getting it approved by the FDA, it will only be available in the U.S.A. so why is it so important to us that it is approved?

The technical answer – Approval of Eteplirsen by the FDA will be a monumental step forward for the entire Duchenne, and in fact, wider rare disease communities for many reasons. Firstly, Eteplirsen is simply the first in a pipeline of drugs being made by Sarepta Therapeutics that use exon skipping technology to treat the underlying defect causing Duchenne. Together this pipeline has the potential to provide part of a cocktail of treatments for around 80% of Duchenne patients. If Eteplirsesn is not approved by the FDA, it will put paid to the hopes of hundreds of thousands of families who will witness the failure of the most advanced potential treatment for Duchenne, a 100% fatal condition for which there are no treatments. This failure will be made all the more heart breaking, given that the treatments works – it meets its primary objective of slowing the progression of Duchenne.

Secondly, the failure of Duchenne experts and families to convince the FDA of the efficacy of Eteplirsen will deter the bio tech industry from investing in research for Duchenne and many other rare diseases. After all, while the trial population was small, the drug has a perfect safety record and of the 12 boys who started out on the trial over 4 years ago (chosen specifically because their condition was deteriorating rapidly and they were likely to come off their feet imminently), 10 are still walking compared to a comparable group of Duchenne boys not receiving the drug and where only 1 out of 11 is still walking. If a drug like this can’t be approved then why should drugs companies spend millions developing drugs that work but that will never see the light of day?

Thirdly, the FDA have a moral duty to put patients before process. The FDA continue to use drug development processes implemented decades ago. These processes do not allow for innovation in medicines and certainly don’t create a platform for the approval of new innovative, personalised medicines, the only medicines likely to pave the way forward for hundreds of lethal rare diseases. By not granting Accelerated Approval for Eteplirsen, the FDA will be showing the world that they want to continue to live in the dark ages and their decision has the potential to deter a generation of innovative and life saving medical research.

The Duchenne population is limited, and these limitations are even more restricted given the personalised nature of exon skipping technology, so traditional trials consisting of hundreds of patients half of whom are on placebo is simply not an option. Who in their right mind would put their child through years of clinical trial procedures and painful risky muscle biopsies if there was a chance that all they were getting was water? Duchenne is a muscle wasting condition remember, these kids have little enough muscles as it is.

Fourthly, the approval of Eteplirsen will create a clear, transparent and usable way forward for future personalised medicines and will lead to an accelerated pathway for follow on exons, putting life saving drugs in the hands of children before it’s too late. Especially considering that there are no drugs in development designed to reverse the effects of Duchenne. Time is life in this situation.

Even though FDA approval will only make the drug available in the U.S.A, it’s approval there may make it more likely to be approved in Europe by the European Medicines Agency (EMA).  Approval will allow patients to work with Sarepta Therapeutics and the EMA to ensure that approval is granted as soon as possible and will bolster the argument of patients, advocates and families that the EMA should use accelerated pathways to approval, not just for Eteplirsen but for follow on drugs as well.

My ‘real life’ answer  – As I fly off today, I am filled with apprehension, nerves and excitement. Apprehension because I am all too aware that we may not be successful. Nervous because travelling alone to engage with a huge group of people is so far outside my comfort zone, and excitement because I can feel the enormity of the situation and I have an opportunity to be a part of history at the largest Advisory Committee meeting the FDA has ever seen.

Duchenne has broken dozens of hearts in my family, it has taken 4 boys from us including my only brother, and threatens the life of my son and my cousin. It has caused countless tears and sleepless nights, it has taken over my life and on a positive note it has perhaps moulded me into the person I am today. Someone who has had enough, someone who simply can’t sit back and take it anymore. It has given me my fight. But I wouldn’t have that fight if it weren’t for the promise of a treatment.

Eteplirsen simply has to be approved. Exon skipping technology has the potential to save Luke’s life. We are lucky in that the exon he needs skipped is next in the pipeline with trials having already started in the U.S.A. Eteplirsen’s approval will, in all likelihood mean Luke could have a treatment before he loses his ability to walk. The promise of exon skipping has been a life line to me since Luke’s diagnosis. It has been the one thing that has kept my hope alive and it is that hope that has given me the drive and passion to carry on knowing what the future holds for Luke. I spend countless hours researching, fundraising, campaigning, building awareness, all because I want to tell Luke that I tried. I want to teach him to never give up, to persevere, to push for what he wants in life but if Eteplirsen, and indeed the whole exon skipping technology, the most advanced potential treatment for Luke and that is still some years away, is refused approval, then I wonder where the hope will come from. I have no doubt that I will see a viable treatment for Duchenne in my life time but failure of Eteplirsen could mean that it will not come in Luke’s life time and that is a bite that is just too hard to swallow.

So to the FDA, I say look at the facts, the drug is safe and effective and 4 years of data and the real life experience of the children on the trial for 4 years prove that. The potential to save or indeed extend the lives of thousands of children is in your hands, don’t let your need to stick to rigid and archaic processes trump the lives of children. Don’t say that a generation of research has been wasted when this drug works. Don’t shatter the hopes of families with children with rare disease all over the world because you feel you can’t back down. See the real picture, listen to patients and families and do the right thing.