Alex Johnson’s son Jack was diagnosed with Duchenne Muscular Dystrophy in 2011 and since then she has been a leading force in tackling this rare disease, founding the high-profile charity Joining Jack, and joining forces with the Duchenne Children’s Trust to co-found Duchenne UK. Recently commended by the UK’s Prime Minister Theresa May, Alex is well known in the DMD community for her work in accelerating research and advocacy and advancing venture philanthropy in the DMD field. Her work is supporting the 10-year Duchenne UK mission to eradicate the disease. To achieve the aim to END DUCHENNE IN 10 the charities have directly funded clinical trials and research projects, co-funded clinical trial staff, and supplied direct research grants. Duchenne UK has developed the DMD hub – a network of clinical trial sites throughout the UK aiming to give all DMD patients access to clinical trials. To combat delays in drugs reaching the patients, Duchenne UK also instigated Project Hercules, an initiative bringing together pharmaceutical companies to address the issues of reimbursement for approved drugs to enable faster patient access.
We asked Alex:
Duchenne UK aimed ‘TO END DUCHENNE IN 10’. What do you see are the key milestones to achieve this ambition?
“We created the DMD-Hub with the core mission that every child diagnosed with Duchenne in the UK is given the opportunity to enter a clinical trial or take part in research, as we believe taking part in research is vital to achieve this ambition, as eventually some of these trials will have positive results that will lead to treatments. Patient recruitment is really important, and we do a lot of work to aid recruitment, for example, the DMD-hub website has a clinical trial finder to allow families to navigate the different criteria and find trials they can participate in, this includes the vamorolone study. We have had really positive feedback about the website and we are proud of that”.
The charities have funded a wide range of research, people and initiatives aiming to accelerate drug development. What do you see as the next major hurdle that needs funding?
“Recently ground-breaking data has been released in relation to gene therapy, so for me, the next major hurdle that needs funding is around gene therapy and how we get that treatment to the whole Duchenne population. Barriers to this include the issues around patients having pre-existing antibodies because they use a virus to deliver the gene, people already exposed to the virus have the antibodies against the virus and could have an adverse event if dosed. The virus is also difficult to manufacture so we need to look at strategies to upscale the production of the virus. In addition, anything we can do to incentivise companies to bring the trials to the UK will be positive, as currently the clinical trials are only taking place in the US. We want to bring benefits from these exciting results to the Duchenne population”.
Often the public don’t get that Duchenne and other rare disease communities are really advancing innovations like gene therapies, and this will help mainstream medicine, you really are pioneers.
“Yes, I agree”.
How easy have you found it to understand the complex nature of medical and pharmaceutical development?
“Six years ago, I didn’t know what a Phase 1, Phase 2 Phase 3 trial was, and I’d never heard of Duchenne muscular dystrophy. When you have a child with a condition like Duchenne, you literally become your child’s advocate and I felt it was my job to learn everything I could. I attended the EURODIS summer school which was a fantastic for me to learn about the drug development, regulatory and HTA processes, and I made it my mission to learn and understand. In the past six years I’ve seen successes and I’ve seen failures and from what I have learned I hope now to apply this knowledge and experience to help things like gene therapy, so we can get it to patients as quickly as possible”.
Sometimes research and pharma development seem to advance slowly, of course it is complicated but you seem to be addressing every element.
“Yes, but my clock ticks differently to theirs. I’d like everything done yesterday, but its painstakingly slow. I started very naively, I looked at data and thought treatments for my son were very close. Emily Crossley (Duchenne UK co-founder) and I have learnt there are a whole host of hurdles to jump through, like getting ethical approvals, having the infrastructure to deliver clinical trials and having the right evidence base for payers. To address these barriers we set up initiatives like the DMD Hub and the Hercules project to ensure the full evidence base is there for regulators and payers to speed up making therapies available”.
Both Joining Jack and Duchenne UK provide significant funding for research efforts, in addition to finance, what other advantages are there in patient groups funding research?
“In our organisation, we are patient and parent led: we live and breathe Duchenne every single day. The knowledge and experience of someone living with Duchenne is very different from a research expert or healthcare provider, so we are best placed to identify what the research priorities should be. Being the funders, we can also make sure all the information given to families is in a friendly format so families can understand it. Some Press Releases are hard to understand, and I know I will get multiple requests from parents asking what it means. This level of communication needs to be tailored to the audiences”.
Several patient foundations including Duchenne UK and Joining Jack have invested millions of dollars in the development of vamorolone. This project has successfully completed the Phase 2a clinical study and recruitment for the Phase 2b is starting. When you consider projects like VISION-DMD how do you as patient groups manage the collaboration between several funders and what do you see as the main benefits?
“I am in a unique position in that I am on the board of the World Duchenne Organisation, with Elizabeth (Vroom) and Dimitrios (Athanasiou). Although I am not directly involved in this Horizon 2020 project, this kind of network and the relationships that develop between all the organisations is key to ensure information is disseminated between parties. Within this extensive network we all talk and meet very regularly. We learn lessons on how things are being done in different countries and we all have different perspectives on research, and the way we view things differently is very interesting”.
Is it easy for patient funders to keep up to date with project progress?
“Yes. When we invest money in a project or a clinical trial we have very clear milestones and communication timelines, if we have invested a large amount of money we may also do monthly calls depending on the company or researcher”.
Venture philanthropy has a growing profile. In addition to advancing research and patient care, what types of return on investment would you expect?
“This is a very different model for drug development. Charities do come in at a very early stage, often investing at the high risk, “valley of death” stage. Usually this is a make or break stage for a project, so if after this often significant investment a drug does come to market, and is worth millions of pounds, money should be returned to the charities for taking that initial risk and de-risking the whole programme. We are very lucky; our board of trustees includes very capable business people with relevant expertise. They really help with investment decisions, the development of contracts and determine how investments are managed and help us in understanding the type of returns we should be expecting”
Joining Jack has a strong local presence and a high media profile with celebrity endorsement. Now you have founded Duchenne UK with Emily Crossley (Duchenne Children’s Trust), what are your future plans for Joining Jack and Duchenne UK?
“Duchenne UK is the patient organisation and acts as a hub making investments in projects and initiatives, managing projects as well as undertaking patient advocacy. Joining Jack will remain as a charity, it has a high profile brand especially within the sporting community and will continue in its fundraising activities. I am involved in both charities, but currently I’m doing a bit more work on patient advocacy with Duchenne UK research projects”.
How do you find the time to run two successful charities?
“It is hard to be honest, but we have a really good team of people who work for the charity and for the money we raise, we believe we have the leanest staff of any Duchenne charity. But they do go above and beyond what is expected, and it is a real team effort to make it a success”.
Duchenne UK has a range of fundraising activities, which do you find the most enjoyable and which is the most successful?
“One of the most enjoyable events we have organised is the Wigan 10K, we started it 5 years ago and its grown so much. For me, when you are on the start line of the Wigan 10k and you look back and see four thousand people doing a JJ salute it’s a mind-blowing moment. Last year Joining Jack won the Dubai 7’s tournament and that was an unbelievable moment. Seeing Jack so happy, laughing and cheering, that moment will stay will me for the rest of my life.
In terms the most successful fundraiser of Duchenne UK, the Duchenne Dash 300KM cycle ride from London to Paris in 24 hours has just happened and raised a million pounds. Emily Crossley, Emily Waring and the team have grown this event year on year, it is growing unbelievably and is an incredible event.
When we started Joining Jack six years ago we never imagined we would have the success that we’ve had and benefited from the enormous generosity of people”.
Jack and your family have a high media profile because of Duchenne, how do you all cope with this?
“Surprisingly Jack copes very well and is comfortable with it all. He understands what we’re trying to do, as he’s getting older, he’s finding things harder, he’s struggling to get up and down stairs now and we are having to get our house adapted. He is a fantastic ambassador and he says what he thinks with a child’s honesty and humour”.
What do you see as your biggest success?
“A few things really, gene therapy entering clinical trials, as between Duchenne UK and Joining Jack we’ve put over £2 million into the development of gene therapy. Project HERCULES as we got several pharmaceutical companies to collaborate which was totally unprecedented. DMD-HUB is another big success, as previously clinical trials were being turned away in the UK. We never thought we would set up our own clinical trial, but we have with the repurposed drug Tamoxifen”.
What would you do differently if you had the chance?
“In the past, I tried to do everything on my own, and wanted to get 100% of the money we raised into research but that was completely unsustainable. If I was to do it differently I would have employed people earlier on, as from experience I know you can’t do everything yourself and you do need people to help you. By employing people we have increased our productivity immensely”.
