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

Duchenne Policy Forum in Washington DC

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Leaving Washington on Friday night, I couldn't help but feel proud of the message that parents and people living with DMD delivered to the FDA (the FDA are the body who make decisions on efficacy and safety of medicines for use in the US).

Our message was loud and clear; if drugs are showing signs of efficacy, we want access to them now. We don't have the time to wait.

I decided to fly to Washington for PPMD's Duchenne Policy meeting with the FDA following the FDA's recent change of position on a previous decision to allow the drug company Sarepta to file a New Drug Application for Accelerated Approval (AA) of their exon skipping drug Eteplirsen. Although we can't get access to Eteplirsen in the UK and Europe due to patent issues, and although the drug won't benefit my son, I still want the 13% of kids in the US that it can help to get access to the drug quickly. In my opinion, waiting for the results of a large scale phase three trial (which is what the FDA wants to do) will mean that there will be many boys who won't get the chance of better quality of life and extended mobility. For me this is unacceptable.

My hope is if AA is granted for Eteplirsen in the US, it can help carve a faster pathway for the development of treatment for subsequent exons, and allow us to achieve the ultimate goal of platform approval whereby all these exons are approved by the regulators at the same time based on existing data. My understanding is there are no patent issues in Europe for Sarepta, Prosensa or GSK with any other exons. Without platform approval, exon skipping is a distant dream for my son; Jack has a rare mutation. I want to urge the regulators to consider a new flexible pathway for the development of exon skipping drugs and other potential therapies for Duchenne.

A good overview of the meeting can be found on PPMD's website:http://community.parentprojectmd.org/profiles/blogs/duchenne-policy-forum-recap

Elizabeth Vroom, from UPPMD, delivered a key message to the audience; 'Consistency in the global approach.'

Going forward, it will be important to harmonize regulatory guidelines in US and Europe. As a community, I feel this is something we should actively work on. I made a submission to the guidelines the European Medicines Agency were drawing up in preparation for regulatory approval of drugs for DMD along with many other parents in the UK. Actions like these are simple and don't cost anything other than time and may allow us to influence the way regulators perceive the risk benefit analysis when reviewing drug applications for DMD.

Here's some feedback from recent campaigns to support AA for Eteplirsen, which shows that our actions do have consequences. The FDA received over 2,000 emails in response to their decision and the Thunderclap (which we used to spread our message through social media) reached over 370,000 people on Wednesday. And the FDA took note: They said Duchenne has the highest priority they have encountered in the past 14 years, drawing comparison between this and when the HIV epidemic hit. People are beginning to understand the reality that Duchenne is the #1 genetic killer of children and young adults. Thursday's meeting brought together 18 members of the FDA (an unprecedented amount) along with many Duchenne medical and research experts, industry leaders and the Duchenne Patient Community.

In my opinion, if a drug for DMD is shown to be safe, and shows evidence of slowing or stopping the progression of the disease during a phase 2 trial, everyone who wishes to have access to the drug should be allowed to take part in the phase three trial. A campaign I actively support which also believes in this is Empower's Access To Medicine campaign, which you can find out more about here: http://www.accesstomedicine.co.uk/.

So I went to Washington because I wanted my voice to be heard. I was lucky enough to be chosen to speak. Unfortunately we have been unable to get a copy of the recording, so I have copied the speech below. Two minutes isn't a long time when you want to say so much.

"I've come a long way to join you here today. I've travelled from the UK leaving behind my young family in the lead up to Christmas. It's a precious time for all families - but especially for us, because we are living with a ticking time bomb.

My 5 year old son Jack was diagnosed with Duchenne Muscular Dystrophy 2 years ago. The emotional impact of the diagnosis was truly shattering and we could barely bring ourselves to say the words Duchenne Muscular Dystrophy - because they symbolised such devastation. We were sick with grief and heartbreak.

Two years have passed, and what keeps us going is hope. Hope that treatments will come in time to preserve my son's quality of life. Jack is still walking. But following conversations with some of the leading experts in the field, we live in daily terror. Because the most frightening thing about Duchenne, is that up until the age of 7, boys can appear to be improving. Then, all of sudden, they start to decline rapidly. Jack will very quickly lose all the functions and abilities we have proudly watched him gain.

For the first time ever, exon skipping and other potential therapies have made great advances.

These treatments have been shown to be safe, slow down or stop the progression of the disease. Both of these are extremely important for all patients - for my Jack it means he can stay walking for much longer which will hugely improve his quality of life.

We need a new flexible regulatory pathway for the approval of Exon Skipping drugs to ensure they become available to all they can help.

Once 51 is approved, How will drugs be approved for subsequent exons? For rare exons, it will not be possible to do full studies for each one. Can data be shared or extrapolated and decisions made on the risk/benefit balance to allow platform approval. Without platform approval we face the real likelihood of discrimination by genetic mutation, with some boys receiving treatment while others with a different mutation are left untreated.

It is crucial that the FDA recognizes the very rapid decline of boys with DMD and allows patients access to drugs as soon as possible. This will not only improve their lives immeasurably, but also relieve their families of the horrible emotional burden of watching their child deteriorate and rapidly lose every functional ability in their body."

Thank you

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