Access to treatments

Summary Report


Gene therapy offers a potentially exciting treatment approach for patients with Duchenne Muscular Dystrophy. A number of companies are now testing their approaches in the clinic. Currently these trials are taking place in the US. Duchenne UK and the DMD Hub wanted to understand what more can be done to encourage them to be brought to the UK.

The UK has a wealth of knowledge and experience in running DMD trials and gene therapy trials in other indications. However, challenges do exist.

The meeting was important and timely, and looked in valuable detail at some of the hurdles and barriers that exist, and ways to overcome them so that we can make the UK fully ready for gene therapy trials in Duchenne Muscular Dystrophy.

On the 14th November 2019, the DMD Hub team brought together 100 stakeholders, including leading UK neuromuscular centres, patient advocacy groups, national and local pharmacy representatives, colleagues from NIHR, industry representatives with experience of running gene therapy trials in neuromuscular disease, industry representatives currently setting up gene therapy trials in DMD, NICE and NHSE representatives as well as government funded organisations that are working to facilitate gene therapy. Currently, there are several trials underway in the US, some of which are planning to come to the UK in 2020. The meeting was aimed at ensuring the UK is aware of and as prepared as possible for the barriers.

For more information on gene therapy, please click here: https://www.duchenneuk.org/gene-therapy-overview.

There will be a more detailed report to follow in 2020 but this gives a short summary of the meeting and key actions moving forward, including providing an educational programme for hospital staff and patients, as well as engaging with approval bodies early in the process.

The day was split into several sections:

  1. The shared vision for gene therapy in the UK
  2. The barriers to its delivery
  3. The state of readiness in the UK, particularly in DMD Hub Sites
  4. The pathway to accessing the therapy from the NHS
  5. The potential avenues for collaboration

The shared vision for gene therapy in the UK

In this session, Professor Francesco Muntoni (Great Ormond Street Hospital, London) spoke about the perspective of the clinicians. He highlighted some of the key areas of difficulty, particularly the uncertainty around the durability of the treatment, and the managing of adverse side effects. He also raised several practical considerations, including the number of patients able to take part in the therapy, the age range that will be targeted and the expertise of the centre where the child is receiving the therapy.

This was followed by Duchenne UK’s Emily Crossley and Alex Johnson looking at the patient perspective, and how important gene therapy is to families of children and young men with Duchenne. They presented the results of a survey conducted by Parent Project Muscular Dystrophy in the US in 2017, which investigated patient’s preferences about using gene therapy technologies as a possible treatment for DMD. The results were used as the basis for two publications – one on priorities when deciding on participation in early phase gene therapy and another looking at the preferences of patients and parents – please click on the links to read the full article. From the study, it was found that one of the highest causes for concern about participating in gene therapy, was that it may not allow patients to participate in other therapies, such as CRISPR. It was also found that caregivers were more concerned than patients about improved muscle and heart function as a result of gene therapy. Patients who had become non-ambulatory were also willing to accept more risks. The DMD Hub is planning to collaborate with PPMD in the near future to carry out a survey to better understand patient’s preferences in the UK, in light of the most recent information.

The barriers to delivery

There are several barriers to the delivery of gene therapy for DMD which need to be identified and overcome, if the therapy is to be a success. Currently, gene therapy is being delivered in the UK for patients with Spinal Muscular Atrophy (SMA), another neuromuscular disease. The most important being that the treatment is delivered very specifically via injection into the affected areas around the spinal cord, requiring very smaller doses, but also time of diagnosis, patient population and symptoms. This study also, crucially, provides us with a great opportunity to gain an insight into the processes of gene therapy treatment. Imran Kausar from Avexis presented an excellent overview of Avexis’ experiences in the delivery of gene therapy trials in SMA patients. He identified three key issues that had been problematic for getting the trials up and running – Ethics Committees which may have little experience of gene therapy, the disposal of the vector which is used for the delivery of the AAV and internal approvals at hospitals which are often under resourced.

The barriers faced by industry were further expanded upon by Professor Laurent Servais (John Radcliffe Hospital, Oxford), considering the situation in DMD. He highlighted the difficulties of manufacturing sufficient virus, particularly once gene therapy is delivered systematically (i.e. to the whole body), therefore requiring a higher dose. He also discussed the burden on pharmacies of having to handle the virus, and the uncertainty that Brexit will cause for the manufacturing and delivery of medicines.

Anne Black and Maria Allen represented the pharmacy views and shared information and documents published by the Royal Pharmaceutical Society and the Specialist Pharmacy Service. The presentation and documents highlight the crucial role pharmacies will play in gene therapy delivery, including storage of the virus, its handling, the preparation required and the logistics of ensuring product quality and patient safety. The documents are now available via the DMD Hub Toolkit.

The session concluded with a Q&A with industry partners from Sarepta, Pfizer, Genethon and Avexis. Issues such as, why the US is often preferred over the UK for trials, and whether the UK is ready for gene therapy, were raised. Companies tend to initiate trials in the US as that’s where many investors are based. The trial set up process is more straightforward with one single regulatory authority allowing immediate access to a large group of potential patients, whilst in Europe, they must get approvals in individual countries as well as from the central body (the EMA). But it was also emphasised that the UK is more responsive to the challenges and is recognising the need to implement cultural and operational changes. The UK has excellent clinical and scientific quality and the MHRA are actively trying to remove some of the barriers.

The state of readiness in the UK

Dr Anne-Marie Childs (Leeds Teaching Hospital) presented the results from the DMD Hub Institutional Readiness survey, which had been prepared by Emma Heslop (DMD Hub Manager) and Anna Irvin (Newcastle University Senior Clinical Trial Coordinator) and circulated to all DMD Hub sites. It was investigating 3 key areas – assessing experience, capacity and facilities, and interest in conducting gene therapy trials. Whilst there seemed to be a degree of experience at a range of sites, there was not necessarily the experience in paediatrics or with attenuated adeno-viruses (AAVs – the most common delivery method). Some of the areas which clinicians identified as problematic were the initial set-up, the managing of side effects, staffing and protocols. In addition most centres were able to identify the facilities required to run gene therapy trials but they were not necessarily on the same site therefore co-location of facilities was identified as an important questions which should be followed up on.

The conclusion was that there is a definite enthusiasm to bring gene therapy to the UK for DMD but there isn’t necessarily the existing experience in paediatric AAV gene therapy trials in more than 3 sites. A follow up survey in collaboration with sites and industry is planned for 2020. Matthew Peak (Alder Hey) also presented on general readiness in the NHS, suggesting that high performing NHS research institutions were the best placed to deliver gene therapy, as they had the culture, leadership, facilities and experts already in place. However, he acknowledged that it is important to develop the culture and leadership in other sites, which could be done through networks, like the UK Research Directors Network. This includes Directors of Research from sites throughout the UK. Matthew also highlighted the important role of the DMD Hub in coordinating and harmonising initiatives to help get trials set up quickly and efficiently.

The pathway to accessing the therapy from the NHS

In this session, Fiona Marley from NHS England and Professor Ron Akehurst representing NICE, gave a commissioners’ perspective of gene therapy trials. Fiona spoke about the necessity of creating a balance between experience and geography, discussing with devolved administrations and generating referral guidelines. She highlighted the need to consider more innovative payment mechanisms and pointed out that simple payment mechanisms are preferable. Working with patient groups was also highlighted as important, particularly for disseminating accurate information about the treatment/technology.  Ron highlighted the importance of effectively capturing the value of a therapy which may be transformative. In order to do this effectively we need to think about it early and generate the appropriate evidence to support the case beyond approval. Project Hercules was discussed as an excellent example.

In the following panel discussion, questions ranged from the role of new-born screening, whether gene therapy would be eligible for the managed access arrangement, whether gene therapy could be funded through crowdfunding and why decisions were often delayed. It is probably unlikely that gene therapy would be eligible for the managed access arrangement given that it is only applicable for uncertainties. It was also considered that crowdfunding would not be appropriate or effective. With regards to the length of decisions, this is often caused by poor submissions and lack of experience in compilation.

The potential avenues for collaboration

In this session, there were presentations from Anna Outhwaite (Cell and Gene Therapy Catapult), James Shaw (Northern Alliance Advanced Therapies Treatment Centre) and Professor Volker Straub (Newcastle University, representing TREAT-NMD).

Catapult is a network of world-leading centres designed to enhance the UK’s capability for innovation and to drive economic growth. One of their key areas of focus is Cell and Gene Therapy, and they are working with researchers and companies to help overcome some of the challenges around cell and gene therapies. They are working to create an informed workforce, offering e-learning for health professionals and developing a governance model which can be replicated across different sites.

The Northern Alliance Advanced Therapies Treatment Centre (NAA-ATTC) is an initiative to increase patient access to advanced therapies and is a collaboration of twenty industry, NHS and academic organisations, led by Newcastle Hospitals and Scottish National Blood Transfusion Service. They develop the systems and infrastructure required to support cell and gene therapies, from the very early stages right through to reimbursement. The DMD Hub is working with NA-ATTC to ensure that efforts are harmonised and lessons shared.

TREAT-NMD is a network of neuromuscular specialists which enables new therapies to reach patients as quickly as possible, as well as establishing best-practice care for neuromuscular patients worldwide. One of their current initiatives is to develop a post marketing surveillance registry for industry to monitor safety and long-term efficacy after a drug has been approved. This could be particularly useful for gene therapy, given our limited knowledge of its long-term effects.


The meeting was a great success, and as a result, there were several areas which the DMD Hub will focus on over the next few months:

  1. Coordinating recruitment of patients by agreeing a model for fair and equitable recruitment.
  2. Developing a model for delivering DMD Gene therapy trials, particularly how to balance between gene therapy and other ongoing trials.
  3. Creating guidance documents and linking existing resources through the DMD Hub Toolkit.
  4. Collaborating with existing initiatives like Catapult, NAATTCC and UK Research Directors.
  5. Engaging with commissioners much earlier in the process to speed up approval processes.
  6. Providing education on gene therapy to both staff and patients.
  7. Improving understanding of patient preferences.
  8. Addressing issues and barriers faced by industry, such as delayed approval processes.

We are very excited to take this next step towards bringing gene therapy to the UK and would like to thank all speakers and attendees for their active participation.

Published on 20 December 2019

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