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Meet the Board: Elizabeth Vroom & Alexandre Méjat

December 2022

Our Meet the Board interview series is hearing from each of the members of the EURORDIS Board of Officers and Board of Directors.

In this edition, we talk to two members of our Board of Directors, Alexandre Méjat and Elizabeth Vroom, who discuss with us the crucial importance of advancing medical research and facilitating improved international data sharing on rare diseases.

Elizabeth Vroom has been a Board member of EURORDIS since 2019. She is the founder and President of the Duchenne Parent Project Netherlands, and Chair and co-founder of the World Duchenne Organization (UPPMD).

Alexandre Méjat was elected to the Board of Directors of EURORDIS in May 2018 and is personally affected by a Bethlem myopathy. After obtaining a PhD in molecular and cellular biology by training, he became the Scientific International Affairs manager for AFM Telethon.

Interview with Elizabeth Vroom

What first led to you becoming involved in advocating for people living with a rare disease?

Well, in fact, 30 years ago, my son was diagnosed with Duchenne muscular dystrophy – a rare disease, which is quite well known.

Two years later, I started an organisation to raise funds for research, and that’s how it all started, basically.

From there, of course, it expanded to more work on Duchenne, more rare diseases, and not only more research, but also better care.

Alongside your long-held position as founder and president of the Duchenne Parent Project Netherlands, you are also the co-founder of the World Duchenne Organisation.

What, in your experience, can be achieved through working at the international level to improve the lives of people affected by Duchenne and Becker muscular dystrophy?

I think international collaboration is really core, because in all countries individually, we’re only small groups.

Moreover, collecting data about care and having standards of care is something that is important to do internationally.

In terms of knowledge, we also have more researchers, more brains, more people, and more money at the international level.

In terms of numbers of patients, Duchenne is not the rarest of all diseases, but I believe that no matter your rare disease, no one can do it on their own.

What advances in medical research are you proudest of having supported or promoted throughout your career?

If we go back 28 years when we started in Duchenne, there were no companies working on drugs. Nothing. And now I think we’ve had 60 clinical trials, with a lot of companies working on it, as well as a lot of research institutions.

Unfortunately, the cure is still not there for Duchenne. I think we – and I’m part of the ‘we’ – have contributed to the life expectancy. The life expectancy of someone with Duchenne when I started was 18 years, and now we’ve almost doubled that figure, so that is really a big thing. This has happened not by using magical drugs, or the drugs we maybe hoped for, but by applying knowledge that was gathered over the years, with the support of patient organisations. I believe that this is the biggest achievement. If you double the lifespan from at least 18 years into the 30s, that’s already a big step.

What led to you becoming such a champion and advocate of improving the use of data in medical research?

Well, in fact, I realised that there was so much data in silos everywhere. Every patient had data in different hospitals. Yet, we were always speaking about not knowing enough, and not having enough data.

I think really from the parent perspective, and the patient perspective, we decided to set up the Duchenne FAIR Data Declaration, and we were fortunate to be in touch with people who worked already as scientists, and who worked on the ‘FAIRification’ of data, as it’s called. This refers to making sure that data that is ‘findable,’ ‘accessible,’ ‘interoperable,’ and ‘reusable.’

Our Declaration said a lot about why FAIR data principles are important. It stated that patients should, in fact, be at the core of the use of data, because companies and researchers prefer to keep their own data and don’t understand the incentive of sharing data. In the end, everybody is benefiting from the sharing of data.

You could call this an uphill battle. Some people often say: ‘You can’t do this, because GDPR does not allow it. It’s too difficult.’ But in fact, in Article 20 of the GDPR, it is stated that patients should have access to their data, in a structured, commonly used and machine-readable format and have the right to transmit those data to another controller without hindrance from the controller to which the personal data have been provided.

This means that patients could be at the core of this optimal use of data

In my opinion, one of the reasons why I feel I could do something here is that we are really in touch with the best people in this field. In the Netherlands, there are a lot of people working on the optimal use of data.

I think in the rare disease field, the Duchenne Parent Project in the Netherlands is ahead of a lot of other groups in this field, and that means, please let us help you!

But I also feel that patients and patient organisation should stand up and be more in control of their data and really don’t believe that it’s impossible, because it has shown to be possible, and we are all able to make a difference.

What are currently the greatest obstacles to further important advances in medical research? And how can they be overcome?

I think the main obstacle we’re seeing is funding. That’s always an obstacle because, of course, there are companies doing their thing, but that’s only really a part of it, because you can’t even develop drugs without having good research institutions and also good clinicians.

Then you see that when you want to do clinical trials, you have to make sure that there are enough hospital centres providing the same standards of care, because, otherwise, your data and your results get blurred.

I also see that in the field of drug development, it’s hard to have companies develop it for all patients, because for them it is often attractive to do it for a smaller group where it can be easier or faster to prove that it works. For example, in Duchenne, drugs are developed for people that can still walk. But walking is only one third of patients, so two thirds are left out.

I’m sure other diseases have similar problems, so how do you get drug development for the widest group of patients? You know, it’s difficult to make sure that the benefits of research are available to everyone who could benefit from them.

As a member of the EURORDIS Board of Directors, what do you hope to see EURORDIS achieve over the months and years to come?

First of all, I hope EURORDIS will be able to keep up the good work. We all don’t know what’s ahead of us in terms of funding and policy.

And secondly, I hope we will be able to find the strength in our European and wider community to get everyone on board to support the initiatives which have been shown to work at the national level. This is because there are some diseases that are so rare, that they really need help from other patient organisations. EURORDIS could be a central point in connecting people, in exchanging the strengths of certain groups to others.

What values or priorities will be key to EURORDIS succeeding in its ambitions to create a better world for people living with a rare disease?

Well, I think for me, the values we fight for are equality and equity.

Also, we must not only focus on rare diseases as a problem. We must also focus on how patients with rare diseases can have a good life, and if they are – as I said for many with Duchenne – now living a longer life, that life should be a good life. We should focus on how we could also contribute there.

I realised that makes the scope even wider, and I know that of course, EURORDIS is already speaking about this at an international level. But I think that is a really big challenge, how to balance between medical advancements and making sure that people living with a rare disease have a position in society that’s improving.

It is not easy at a time like now, when there is an economic recession and other problems, but it is often the people with disabilities or people with an illness who suffer the most during such periods.

Interview with Alexandre Méjat

What first led you to becoming involved in advocating for people living with a rare disease?

Just like many people involved with EURORDIS, I’m directly affected by a rare disease – more precisely a neuromuscular disease called Bethlem myopathy.

Due to this pathology, my parents have been involved in the French fundraising event Telethon for 32 years, and, as I was growing up, I thought I could dedicate my career to helping research in rare diseases, so I did a PhD in molecular biology.

I led a research group, and, in parallel, I also volunteered as a member of the Board of Directors of AFM Telethon and one of its research institutes.

As I usually say, I fell into volunteering when I was a young boy and for me it was a natural evolution to be involved not only in neuromuscular diseases, but in all rare diseases as we develop new therapies for all rare diseases.

You have led extensive international research into neuromuscular conditions, and you are currently involved in several international research networks, including the European Joint Programme on Rare Diseases (EJP RD) and the International Rare Diseases Research Consortium (IRDiRC).

Why are international collaborations, such as those you have been involved in, so important in the field of rare diseases?

Just before talking about the importance of collaboration, I would just like to say that from meeting people from all around the world, I realised that when you talk about diseases it completely eliminates other considerations. You forget about one’s religion, the colour of their skin, their language, or political opinions.

When you fight the same disease, you just care about winning your fight. The rest loses its meaning, especially when we are not just a large community, but a worldwide community.

Going back to the need for collaboration, we’re talking about rare diseases, which means that there are often only a few patients disseminated all around the world. Ultimately, it’s usually complicated to get biological samples, to build a strong natural history, and to recruit patients for clinical trials.

Therefore, it’s very important, once again, to have a large community, including patients, clinicians and researchers working together to share data, to share biological samples, and to share information in general.

What advances in research are you proud to have been involved in throughout your career?

Actually, there are two parts to my career that I’m proud of.

First, I led a research team working on laminopathies, which are a specific group of rare neuromuscular diseases. I was very proud of discovering one of the pathophysiological mechanisms., as that’s what you’re always looking for, trying to understand why a mutation in a specific gene leads to a disease.

But I also have a second part of my career, since I work in the scientific department of AFM-Telethon, accompanying patients in their activities in the European Federations, and I have been helping patients to build surveys that collect patients’ expectations and patients’ unmet needs. I’ve realised how powerful these kinds of surveys can be. For example, we have been instrumental in convincing the British government to continue paying for certain treatments, even where the treatments only provide a stabilisation, and not necessarily an improvement, in patients’ health. Even the patients reported through a survey that for them, stabilisation was crucial, and that it was thanks to the survey that they could convince the government.

To link with the activity of EURORDIS, it also shows the importance and, really, the impactful role of Rare Barometer, because collecting patient voices is really a very important tool to be able to orient different policies.

Which recent scientific advancement do you think really provides the most hope in the field of rare diseases?

Firstly, going back to the AFM-Telethon activity, we have been promoting, supporting, and funding gene therapy for more than twenty years. Right now, we are starting to see the successes of gene therapy and people are starting to consider it as a safe and efficient way for curing, or at least largely improving, some rare genetic diseases. But twenty years ago, people were not that convinced. We can now use gene therapy and stem cell therapy, which is an impressive result of twenty years of research.

And in the most recent improvements, I think artificial intelligence could clearly accelerate the discovery of new treatments, the improvement of existing treatments, and the proposing of existing drugs for new diseases.

I believe that by combining, again, classical research and data, and data analysed by artificial intelligence, we could really see some great improvements in the future.

What are currently the greatest obstacles to further important advances in medical research and how can they be overcome?

As we mentioned previously, one of the new tools which could help to really accelerate thingscould be the use of algorithms to better analyse data.

However, to nourish these algorithms, we absolutely need data. Therefore, I think that one of the biggest obstacles in medical research right now is the fact that data is missing.

We have too many small national registries which are not connected with each other, we have too many regulations which are an obstacle to data sharing.

I really, really think that one of the main obstacles to tackle right now, is to make sure that we find a way to share this data as openly and easily as possible, because they are really one of the most important resources to improve research. 

As a member of the EURORDIS Board of Directors, what do you hope to see EURORDIS achieve over the months and years to come?

I think EURORDIS has been instrumental to prove that patient perspective is crucial in all steps of therapeutic development, but also in building national policies with the hope of accompanying people with a disability for example. I strongly believe that that’s the way to move on.

I mentioned Rare Barometer as one of the very crucial tools to be able to collect the patient perspective, and I think that’s really one of the things that EURORDIS should push. EURORDIS should continue to make sure that patients are involved in all the existing and newly created international networks, such as the European Reference Networks (ERNs) and the European Joint Project on Rare Diseases.

That’s really where we need to have, again, all members of the community, all the stakeholders implicated – clinicians, researchers, regulatory agencies, and, at the heart, patients. 

What value or priorities do you believe will be key to EURORDIS succeeding in its ambitions to create a better world for people living with a rare disease?

Once again, the patient must be at the centre. I really think that that’s the main value. That’s the soul of EURORDIS. EURORDIS is an umbrella organisation of patient organisations.

But what does it mean to have patients at the centre? It firstly means to consider that patients are the best and most legitimate people to talk to about their pathology. The famous ‘nothing about me, without me’ phrase brings light to making sure that we have patients involved everywhere.

It secondly means recognising patient experience and expertise. The EURORDIS Open Academy has been, again, instrumental to empowering patients, enabling them to actively participate in research development and, at the same time, really bringing their own perspectives.

And, finally, it means staying connected to our community. The best patient representatives are well-trained, but also highly connected to a community. EURORDIS has played a big role in connecting people and making sure that all national alliances talk to each other, to try and coordinate their actions at the national level.

All the European Federations are trying to work together to improve their way of interacting with other stakeholders, such as regulatory agencies or pharmaceutical companies. Therefore, once again, building a community, favouring contact and communication between all the members, will be one of the ways for EURORDIS to succeed in the future.

Read more interviews from our Meet the Board interview series.