Duchenne UK news

Gene Therapy Meeting: Patient Perspectives

18th November 2019

Last week we hosted a gene therapy meeting in Newcastle attended by more than 100 people including representatives from NICE, the NHS, UK hospitals and the pharmaceutical industry. The meeting was to discuss bringing gene therapy trials to the UK. 

We will be sharing a report of the day in the coming weeks.

During one of the sessions, Emily and Alex gave a speech highlighting the importance of the patient perspective.

Here is their speech:

What does the patient perspective mean?


Our sons – Eli and Jack are both 12.

When they were diagnosed – we were both told that we should forget gene therapy. That it would not happen in their lifetimes.

Well – we’re not there yet, but we are living in hugely promising times – the likes of which we could barely have hoped for 8 years ago. Three companies NOW in the clinic with gene therapy! 

Pfizer and Sarepta are dosing patients.

Solid Biosciences had their trial put on hold after announcing yesterday that one of their patients is recovering from a serious adverse event in hospital. We hope he will go home soon and we wish him and his family all the very best.

Because drug development isn’t easy.

And neither is living with Duchenne.

Parents are caught between two terrifying choices. To do nothing and let Duchenne run its course: Or to do something and take on the risks that that choice entails. And Alex is going to share with you some findings from the US about the appetite for risk in gene therapy trials among Duchenne families

As parents we have kids, but life for us is far from normal.

They stand out among their friends — tiny for their age, and puffy of face — all side effects of the steroids — the only current known treatment we have for all boys with Duchenne Muscular Dystrophy.

For a brief moment we look at the other boys – growing tall and strong. And then we look away because we cannot bear it – we cannot bear to be tortured by thoughts of what could have been. 

Of what lives our sons might have been living if they didn’t have this awful unspeakable broken gene. 

All the while we’re smiling and saying hello to the other parents. But inside ? 

Inside we are cracking, breaking, falling apart.

The grief is a raw. Everywhere I go I carry a bucket of my tears with me. It’s there. Everyday. All the time. 

At home time, we hug them and kiss them and we hold them tight because we can feel them slipping through our fingers. We feel time pressing on – we feel Duchenne cutting into them – robbing them and stealing from them every minute of every day. 

If we’re lucky they go to bed without asking any questions. 

But sometimes there are the unbearable questions. Why me? When am I going to be in wheelchair mummy? Am I going to die?

And then we put them to bed and we are left alone with our thoughts. 

The grief never leaves. It comes and goes like the waves of a tsunami. The gaps between the waves sometimes widen. But you always know the next wave is coming. Some days the wave knocks me off my feet and sends me to bed – with uncontrollable tears. Some days I scream at it. 

And some days I am just left completely numb – my brain shuts down because of the intense pain.  Because I know that if I let it in, it will destroy me. 

And this is the reality – of not just Alex and I – but every Duchenne Parent up and down the country – and it’s why we all get up each day and we keep on fighting.

Because Patients are part of a complex ecosystem of drug development and care. And we believe that if the patient perspective is absorbed at the very beginning of the process of care and of developing a novel drug the process should be easier all round !

So we don’t see patients as giving a perspective – we see them as being at the absolute heart of everything we do and everything that drives us and Duchenne UK to get results for everyone.

So patients told us they wanted more trials in the UK so we set up the DMD Hub

They wanted trials of promising repurposed medicines, so we part-financed the Tamoxifen trial and brought it to the UK. More than 50 patients have now been dosed.

They wanted early access to drugs waiting for approval – so we campaigned for and won the Early Access  to Medicines scheme and there are now more than 40 patients taking Raxone, a respiratory drug for DMD.

They didn’t want to be told that their sons couldn’t be given a drug that had been approved for use and effective – because no one in the UK has been able to work out how to pay for it. So we launched Project Hercules and now have 10 pharmaceutical companies working together to build the disease level evidence based they need for HTA decisions.

So we canvassed the view of some families in the UK. Every single one of them wanted to see gene therapy trials brought here.

From parents of young boys like Kirsty Ohly – mum to George and Oscar – both with Duchenne:

Bringing gene therapy trials to the UK gives children living with DMD the opportunity to access a potential new treatment which may change the progression of their disease, improve their function and extend their lives. 

Expanding gene therapy trials to other countries allows us to collect and share vital data to enable medicines, if successful to be approved as soon as possible. Time is something we simply cannot waste

Kerry Shippey – mum to George said:

Watching my son decline is just heart-breaking, but watching him decline without being able to get access to trials like Gene Therapy leaves a parent feeling even more helpless. 

 After approaching the US to get my son on a trial I know I’m one of a very long list. We have some of the world’s best centres of excellence and infrastructure for Duchenne in the UK and we need trials here.

To parents of young adults asking for more inclusive trials: Vici Richardson mum to 17 year old Zak said:

My son Zak is 17, he’s a remarkable and determined young man. He attends college and volunteers as a young leader within a local gymnastics club. 

He stopped walking at 14. He’s now not eligible for any current trials firstly because he’s ‘non ambulant’ and secondly because he’s over 16. 

But that shouldn’t mean he has less of a right to take part in research, or be thought less of when it comes to trial design and planning. 

We need to stop skirting round issues of trial design post 16 and make it happen. It’s going to be messy, ugly and bring up difficult issues, but by ignoring them, we are slowly losing another generation. 

And Pauline Clark – mum to Josh:

Josh, his family, and his medical team have dedicated countless time and resources to ensure Josh reached adulthood in the best physical condition possible. Josh still has relatively good upper body function - he can still use a keyboard and mouse, feed himself, brush his own teeth, and do all those massive ‘little things’ which keep him functioning independently. 

Gene Therapy is the only thing we have left to hope for, to protect all these massive ‘little’ things .

But my biggest fear is any drug tested purely on children may be approved purely FOR children. 

Limiting drugs trials to children rules out including an increasing number of adults living with Duchenne who are increasingly healthy enough to participate, and able to consent to trials.


CLICK HERE to view the slides from this session.  


What is Duchenne Muscular Dystrophy?

Duchenne muscular dystrophy (DMD) is the most common fatal genetic disease diagnosed in childhood. Children born with DMD cannot produce the protein dystrophin which is vital for muscle strength and function. Muscle weakness starts in early childhood. Many use a wheelchair by around the age of 12. As deterioration continues it leads to paralysis and early death, often in their 20s. It almost exclusively affects boys. There is no treatment or cure. In the UK there are around 2,500 boys affected and around 300, 000 worldwide. It is classified as a rare disease.

Who are Duchenne UK?

Duchenne UK is a lean, ambitious and highly focused charity with a clear vision: to fund and accelerate treatments and a cure for Duchenne muscular dystrophy.

We are investing millions of pounds in research right now to bring treatments and a cure to help this generation. Duchenne UK is the largest funder of DMD research in the UK. We are also committed to accelerating the pace of research. 90p in every £1 raised is committed to research.

Our president is HRH The Duchess of Cornwall. Our patrons include the broadcasters Krishnan Guru-Murthy and Mary Nightingale, and the sports stars Owen Farrell, Kris Radlinski and Andy Farrell. 

We need your help, because we need to keep funding promising new research.

How to donate?

Duchenne UK is entirely reliant on donations to fund research for treatments and a cure to DMD. This can be done via:

  • Direct Debit – Duchenne Direct
  • Individual Donation – Donate
  • If you are a family or friend affected by DMD you can set up your own fund with Duchenne UK – Family and Friend Funds
  • Take part in one of our fundraising events – Events
  • Text DUCHENNE to 70085 to donate £5. This costs £5 plus a std rate msg.

For more information visit www.duchenneuk.org


Published on 18 November 2019

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