Access to treatments

First boy dosed on EMBARK gene therapy trial in the UK thanks to the DMD Hub Central Recruitment Project

4-year-old Charlie from Aberdeen is taking part in the EMBARK gene therapy trial and was recruited through the DMD Hub Central Recruitment Project

For families affected by Duchenne muscular dystrophy (DMD), clinical trials can bring hope by giving them access to innovative treatments like gene therapy. However, with only small patient numbers recruited, usually from the trial site’s own patient group, these trials are inaccessible to many families across the UK.  

The DMD Hub’s Central Recruitment Project is addressing this by working towards fairer and more effective research recruitment. By collecting data from DMD patients across the UK interested in taking part in research, sites running studies are now able to recruit eligible patients outside of their own locality. 

Thanks to the project, the first boy in the UK has now been dosed in the EMBARK study, a Phase 3 trial looking at the efficacy and safety of Sarepta’s gene transfer therapy in boys with DMD aged 4 – 7. 4-year-old Charlie’s family shared their experiences with us:  

“Charlie is our happy, handsome, funny little boy. He and his twin sister will turn 5 in a few weeks, and they have just started school. They also have a 6-year-old sister, so our family life has always been a little challenging at times, but when Charlie was diagnosed with Duchenne muscular dystrophy in January 2021, aged 3, our world just imploded. 

Many reading this will know only too well the devastation that comes with the diagnosis. I can only describe those early days as utter darkness. Our little boy’s future had been snatched from him by a cruel twist of genetics and the future just seemed bleak. 

In those first few weeks, we read what we could in our stronger moments and found a wealth of information and support from Duchenne UK. Their clear aim to bring more effective treatments to this generation of boys and men affected by DMD began to offer us a shard of light and we felt some hope for Charlie’s future. We set up a Family and Friends Fund, Changing Charlie’s Future and began fundraising for Duchenne UK. 

I discovered Duchenne UK’s DMD Hub, which gives information on current and upcoming research studies and is working to bring more studies to the UK, so more families have the opportunity to take part.  

We felt that if Charlie could take part in research, not only could it potentially help him, it could help move science forward and benefit other little boys and their families in the future.  

After realising Charlie may be eligible for some studies, I had contacted the relevant trial sites throughout the UK but as Charlie receives his clinical care here in Aberdeen, our nearest trial site in Glasgow is still 150 miles away, it was unlikely he would be recruited to a site. The DMD Hub’s central recruitment project was possibly the only way that Charlie could have had a chance at participating in a trial. 

Registering was simple and involved providing Charlie’s ambulatory, cardiac and respiratory status, his medication, most recent clinical letter and genetic report. The reports could be obtained from his consultant if needed. We were asked what kind of studies we were interested in, the distance we were able to travel, and the time we were willing to spend at appointments.  

It took around 10 minutes to complete – 10 minutes well spent! Had it not been for this project, the recruiting site at Newcastle NHS Trust would not have had Charlie’s details. He would not have been recruited to the trial. 

A member of the clinical team contacted me by phone. They explained that Charlie may be eligible for the EMBARK study. She said she would email all the information through so we could read everything in more detail.  

The study information was very clear and detailed but given the nature of the study, we were trepidatious. We had a few immediate questions so I emailed back and Professor Volker Straub, Director of The John Walton Muscular Dystrophy Research Centre at Newcastle University, contacted me to discuss our concerns. 

The following morning, I knew I wanted to go ahead and when my husband had come to the same conclusion, we arranged to go for pre-screening. 

We met with Professor Straub and some of the team at the Clinical Research Facility in Newcastle and quickly felt at ease. There were lots of toys for Charlie to play with and so he was quite happily playing while we were talked through the trial and discussed any questions we had. 

Gene therapy isn’t straightforward – there are challenges involving the viral vector which is used to carry the gene to its target site. Once dosed, the body will produce antibodies to the virus which means subsequent doses of gene therapy will have limitations. This was one of our biggest concerns and we discussed this at length.  

We also discussed the potential risks, and what would happen in these situations. Taking part in any trial involves risks, but we were very well informed of them.  

A few weeks later, we had a screening to ensure Charlie met all the criteria for the trial and arranged a date for dosing. It sounds straightforward, but for us it was a tremendous leap of faith in science, in the hope of giving our son a better future.  

A member of the clinical team said to me, “You need to play the hand you have.” This really resonated with me. Life has dealt our boys the cruellest of hands, and nothing but science can change this. Only time will tell but we have played the cards we hold in 2022 and I hope with all my heart, the cards that a family with a little boy like Charlie hold in 2032 will be infinitely different.  

Knowing that Charlie has played just a small part in this, whatever the outcome, thanks to the opportunity the DMD Hub has given him, fills us with pride in our brave little boy and hope for the future for all those affected by Duchenne.” 

Jennifer and Jonny, Charlie’s mum and dad 

Find out more about the Central Recruitment Project and register your details 

Published on 25 October 2022

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