Mel Dixon, Jo Balfour and Dr Rona Smith: How can we work with patients to drive research initiatives?

In this episode, we explore the importance of patient involvement
in shaping rare condition research initiatives. Our guests
discuss why it’s crucial to involve individuals with lived
experiences, including patients and caregivers, in setting
research agendas. In doing so, this approach ensures research can
be more inclusive, efficient, and impactful, addressing the
issues that matter most to those affected.


Mel Dixon, Founder Cure DHDDS and member of Genomics England
Participant Panel is joined by Jo Balfour, Founder of CamRARE and
Dr Rona Smith, Senior Research Associate at the University of
Cambridge and Honorary Consultant in Nephrology and Vasculitis.


Find out more about the Cambridge Rare Disease Research Network,
discussed in the episode, which aims to support the rare
condition community in building an online network of partnerships
and resources to facilitate new patient-centred research
opportunities.


"We’re really turning research on its head, moving away from it
being a researcher-led activity where they decide on the idea and
the research concept and bring patients in at different points
along that research journey and instead starting with the
patient’s idea in the first place.  It can only be a better
system for all because it improves efficiency, it improves
potentially the long term outputs and, most importantly, outcomes
for patients."


You can download the transcript or read it below.


Mel: Welcome to Behind the Genes.


Rona: I think it really means that we measure what matters to
patients and individuals that are affected.  Often, it’s
really difficult to capture kind of the real impact of disease
and there’s a tendency for researchers to measure things that are
easy to measure and are reproducible, which of course is
important but what’s most important is actually being able to
truly capture the impact of an intervention on an individual’s
condition.  So, I think that’s another key aspect of having
people with lived experience involved right from the start.


Mel: My name is Mel Dixon and I’m a member of the Participant
Panel at Genomics England and founder of Cure DHDDS, a charity
set up to raise awareness, support families and help drive
research into the ultra-rare DHDDS gene variant.  On today’s
episode I’m joined by Jo Balfour, Managing Director of CamRARE,
which is the Cambridge Rare Disease Network.  This network
unites patients, advocates, experts and leaders to address the
challenges faced by people affected by rare conditions.  I’m
also joined by Rona Smith, Associate Professor at the University
of Cambridge and honorary consultant in nephrology and
vasculitis.  Today we’ll be discussing the role of patients
in setting research agendas and how their involvement can lead to
more impactful and patient-centred research.  If you enjoy
today’s episode we’d love your support.  Please like, share
and rate us on wherever you listen to your podcasts.


Before we begin the interview I’d like to share a little bit of
my story.  In November 2022, following whole genome
sequencing, we received the news that two of our three children
carried a neurodevelopmental and neurodegenerative DHDDS genetic
variant.  At the time of our children’s diagnosis there was
very little information on our gene, minimal research happening
into it and no treatment pathway.  Through our charity, Cure
DHDDS, we have worked tirelessly to instigate research and create
a collaborative scientific research community.  I am a huge
advocate for patient-led research and have witnessed first-hand
the positive impact it can have on patient lives.  Thanks to
the work of the many scientists that we have had the honour of
collaborating with, within two years of our children’s diagnosis
we have a disease-modifying therapy in our sight and an ASO
(Antisense oligonucleotides) therapy in development.  We are
incredibly grateful for the opportunities genetic testing has
given us but I also appreciate how overwhelming a genetic
diagnosis can be and how challenging it can be for families to
initiate research projects with little to no resources, and
that’s why initiatives such as CamRARE that we’ll be discussing
today are so important.  


On that note, let’s get back to our podcast guests.  I
wonder before we dive into today’s topic if you could both give a
brief introduction, and, Rona, if you could also give the less
scientifically-minded of us an explanation about what nephrology
is.


Rona: Thank you for inviting me today.  So I’m Rona Smith, I
work in Cambridge and I’m a nephrologist and that means somebody
that looks after individuals who have diseases that affect their
kidneys.  My specialist interest is in something called
vasculitis which is a rare autoimmune disease that affects all
organs in the body but kidneys as well. 


Mel: Thank you.  And Jo? 


Jo: Hi Mel.  I’m Jo Balfour, the Managing Director and one
of the founding members of Cambridge Rare Disease Network, or
CamRARE for short.  I think we’re often described as the
‘Chief Everything Officers’.  I manage the charity and all
of our operations and our wonderful team.   


Mel: Lovely.  Thank you very much.  Rona, I wonder also
if you could explain to our listeners what is a research
agenda? 


Rona: So in brief a research agenda is really a strategy that
outlines key questions or topics that a research community, and
that might be investigators, clinicians, scientists, patients,
industry,  and they are the priorities that they want to
explore and address over a period of time.  So it’s really a
direction of travel and identification of areas of importance and
where there are gaps in knowledge so that it then leads to the
opportunity to form specific research questions that you can then
go on and address. 


Mel: Why do you both think it’s important to involve patients in
setting these research agendas? 


Jo: Well I think critically one of the things that I’ve learnt
over my time working, not just in the rare disease sector but
also earlier in social care and education, is that we should as
professionals never assume anything; you know, we have not lived
in their shoes and we don’t know what the daily life of people
living with rare conditions is like.  So gathering that day
to day lived experience is really crucial.  And I have a
unique opportunity to see into that daily life with our local
community of rare disease families who have a range of different
rare conditions.  I’m party to their conversations, to their
daily trials and tribulations, the things that are difficult, the
things that they find joy in but I still will always go back to
them and ask their opinion.  I see myself as a spokesperson
for them as we’re an umbrella organisation but I certainly never
really know what it’s like to live with their conditions.  I
think they bring with them diverse experiences which we really
need and value in setting research priorities, they have unique
knowledge of their own conditions.  They ethically have a
right to be involved from the start and to set that priority and
agenda but, equally, it’s valuable for us as researchers because
if we can involve people early we have definitely more chance of
good engagement and later success, better outcomes for
everyone. 


Mel: Couldn’t agree more.  And, Rona, is there anything
you’d like to add to that?


Rona: I think it really means that we measure what matters to
patients and individuals that are affected.  Often it’s
really difficult to capture kind of the real impact of disease
and there’s a tendency for researchers to measure things that are
easy to measure and are reproducible, which of course is
important but what’s most important is actually being able to
truly capture the impact of an intervention on an individual’s
condition.  So I think that’s another key aspect of having
people with lived experience involved right from the start. 


Jo: Another thing that’s actually quite interesting that I’m
going to mention here is that I think when you live day in, day
out with a condition your perception of things like pain is
different from your average person’s so you become almost
accepting of your daily norm, and I think that’s really critical
to understand as well.  And it’s only by getting to really
know patients and understand. When we say, “What’s your pain like
on a scale of 1 to 10?” you know, something that I feel as pain
because I get it rarely I probably am going to put it at a higher
score than somebody who has that every day.  So I think
there’s subtleties and nuances like that as well which are really
critical to get across by conversation with patients. 


Mel: That makes absolute sense.  And I see that from the
patient perspective myself.  I was out with my friends the
other day and they said, “Oh my goodness, you’re constantly
taking your children to sports activities.”  Because of
their physical needs we’re constantly,  they go to Pilates,
they go to swimming, they go to gym class – we try to keep them
fit and healthy – and we, even though they’re older, have to take
them there and back and that’s become our norm but when you’re
speaking to families whose children don’t have those difficulties
they have no idea how much time that actually takes up.  And
I had no idea how much like time it takes up compared to what
other people are doing because that is our norm, that’s what
we’ve accepted as the norm.  Patients and patient groups are
incredibly driven and invested in their rare disease as well so
they make really good rare disease research
partners.    


And, moving on, what do you see as the challenges and barriers to
patient involvement and how do we overcome these?


Rona: I think probably the biggest barrier is time.  So, the
most important thing is investing time to build relationships, to
really understand in-depth perspectives both from the patient’s
side but also the researcher’s side. And, inevitably, we always
want to do things faster and actually this is one really, really
critical aspect is investing time.  Funding is also a
challenge.  Often you have to do a lot of upstream work
before you have got funding for a project and that takes time
from individuals and that’s another challenge.  And I think
the third thing for me is individuals that are patient partners
in research, they’re not just patients, they’re people - they
have lives, they have work, they have families, they have
everything else that goes on in life - and so actually fitting
this all in is really challenging. 


Mel: Jo, is there anything you’d like to add there? 


Jo: Yeah, I think just a word about diversity really and, you
know, how do we uncover those hidden families and patients who
currently don’t really have a voice.  I think we’d all
acknowledge that there are key voices within the rare disease
community who will share the views of their community and they’ve
become well-oiled machines almost at being great advocates but,
as I mentioned earlier, even though I’m perhaps one of those
people, you know, I speak for a community, I would never assume
anything.  So, I still need to uncover the thoughts and the
feelings and the emotions and the needs and the what matters from
those people, and, as Rona mentioned, that takes time and it
takes building relationships and trust with people.  So, we
have a wonderful community in the Eastern region of England which
is made up of families affected by all different rare diseases,
and undiagnosed.  And some are babies and have been lucky
enough to get a very early diagnosis and others are young adults
but what we’re finding through that is that experience is diverse
and experience changes over time as families go through
transition periods or they meet a roadblock and they’re having to
navigate things differently.  So, it’s about building those
relationships.  That takes times, it takes resources, it
takes sometimes a reset in the way that we think things need to
be done.  So instead of asking questions all the time and
putting surveys out and trying to get response that way it takes
a bit of thinking about how do we listen better and how do we
give those people who don’t have a voice, who are non-verbal or
perhaps have a learning disability, how do we ensure that we’re
capturing their views as well.   


And we did a really lovely project actually last year, it was
something funded by the NHS called My Story, My Way, where we
actually spent three months with our young adults working out
what it was they wanted from our community next, how did they
want us to follow them into adulthood.  And we knew that
there were a number of young people in that group who were
non-verbal and had some learning differences and we knew that we
couldn’t just do it in the normal format, we couldn’t just do a
focus group and ask their opinion, so we actually did it through
photography.  So each of the familiess well, the young
person themself was given a simple camera.  They basically
had thirty-six shots.  You got thirty-six clicks to
capture the things, the people, the places that you love and then
to share them with us as a community.  And then we all
discuss, you know, how these things might be something we can
build into our future plans for them.  And it was such a
wonderful activity.  We gave them plenty of time, plenty of
opportunities to ask questions.  If the young person
themself couldn’t physically click the camera their sibling got
to help them.  And their sibling or their parent was given
another camera in black and white so we had distinctive pictures,
pictures that the kid themself had taken, pictures that the
family had taken, but all together, you know, it gave this lovely
kind of medley, this beautiful visual representations of what
mattered to them.  And I think it’s about taking the time to
be creative with people like that and really get to the bottom of
“How do we find out what matters to you?”


Mel: Although it takes time to think about those ideas. 
That could be translatable across the board really, couldn’t it,
throughout various conditions.  I think that’s
fantastic.  Rona, I wonder if you can tell us how has the
work that’s already been done through the patient-led research
hub facilitated addressing research priorities. 


Rona: So just a tiny bit about the patient-led research
hub.  So, this has been now running for nearly ten years
through Cambridge.  It’s a partnership between the Cambridge
Biomedical Research Campus and we’re based within the university
and the Trust.  And in essence it kind of was set up because
of really a mismatch between what many patients wanted from
research and what investigators’ views were.  And so really
the premise is that we welcome patients to come to us with an
idea, a problem, an unmet need in their disease area – and we do
focus on rare disease – and we work with them to see “Well
actually what do we already know about that?” and then if there
is a gap in knowledge we then move to kind of trying to work and
develop a question that we can then address.  And that might
be a question that’s addressed through generating more
information through surveys or it may actually be a question of
an intervention that we can test. 


So, we’ve had lots of projects come through and we, just an
example of a project was from a group of patients with a rare
kidney condition called autosomal dominant polycystic kidney
disease, and that is a condition where over time you accumulate
cysts in your kidneys and the kidneys become large, they become
very painful and eventually they can fail.  And a question
that the patient group had was about whether drinking more water
could impact the rate of growth of these cysts, and there’s a
strong hypothesis behind that that drinking lots of water reduces
down the level of a particular hormone.  And we actually
worked with the charity behind this group, the Polycystic Kidney
Disease Charity, and designed a study to test a very high water
intake to a normal water intake to see whether it was possible
over a period of eight weeks for patients to actually stick to
this.  It’s quite difficult to do.  And they recorded
how much water they’d drunk, they tested their own urine and
actually it showed that this was feasible to do this kind of
work.  So, I think the patient-led research hub is kind of
taking the research priorities that are important to patients but
working in a patient-led way to come right through to a
project. 


Mel: That sounds great.  And if the patients are engaged
from the start of the project and it’s led by them they’re
obviously going to be much more driven to take part in the actual
research and see the research through
themselves.   


So, Jo, I’m very excited to hear about the launch of the Rare
Disease Research Network.  Can you please tell me what the
research network is and what you hope to achieve with it? 


Jo: So the Rare Disease Research Network is first of all a bit of
a mouthful so we’re going to try and encourage people to call it
the RDRN.  It’s a co-created project which really the
patient-led research hub in Cambridge approached us about in
2022, I think, we started talking about this, approached CamRARE
as a partner to apply for an NIHR partnership grant, and we were
successful with that to really take the model that the
patient-led research hub had already developed and found was
successful, and perhaps too successful for its own good – they
were receiving more applications and more ideas than they could
manage – and to develop that into an online platform.  So
taking the same model, making it more accessible to a wider group
of people, potentially worldwide, and providing the hand-holding
that the patient-led research hub has always done, helping
patients really consider their question, formulate that into a
research idea, then do the literature search to find out “Is this
question already answered, and if it is, great, can we provide
that information to our community?  If it’s not, how do we
then build a team?  Who needs to be in my research
team?  How do we then get funding together to take this idea
forward?”  So, it’s really taking the model, taking the good
practice that already existed and creating an online platform to
really attempt to replicate that as best we can.


So the platform will launch on 23rd November (2024) at CamRARE’s
Rarefest which is a lovely in-person activity that’s going on in
Cambridge, and that platform will be open to anyone who has an
interest in rare disease research.  But I think, critically,
what’s different about this is that, you know, we’ve talked about
setting research agendas and we’ve talked about patients
contributing to that, contributing to setting the priorities,
what’s different here is that the patients decide on the
questions; it’s what matters to the patients coming from them and
their community.  And it’s an opportunity for them to
showcase those questions and those idea on a platform and almost
to have a call to action, “Is there anyone else on this platform
who has similar research interests to me?”  The platform
will matchmake them together through a series of choosing tags,
choosing tags about particular disease areas -  It’s linked
to the Orphanet database - choosing tags about the type of
research that you’re interested in.  That matchmaking
process will happen, which at the moment is a very serendipitous
process but we hope to take it a little bit further on from
that.  It’s still going to be a little bit of potluck who’s
on the platform at the time who’s got similar interests as you
but hopefully it will improve that serendipitous system. 
And it will allow them to access resources on the platform, which
is the kind of hand-holding bit, and also, critically, some
mentoring.  So, there’s a real sort of opportunity here for
professionals – researchers, industry partners, healthcare
professionals – who have particular skills in research to be able
to say, “Well I can help.  I might not be able to be part of
your team at this point but if you need half an hour on a Zoom
call with me to think about your research question I can offer to
mentor you on that.” 


But, likewise, I think there’s going to be lovely opportunities
here for patient groups to support each other too because what
we’ve always realised is that patient groups are at different
points of their research journey.  You know, we see some
organisations that are really well-funded now who are in
partnership with industry, you know, they have a group of pharma
companies that are supporting the development of treatments and
they’ve kind of reached that point where they’re very highly
skilled and very well experienced.  And then there’s others
who are mum and dad who’ve just had a recent diagnosis for their
child, they’ve gone searching on the internet, they can’t find
information, they don’t have a patient organisation to rely on so
they’re going to make one themselves.  This happens all the
time in the rare disease field.  There are 11,000 different
rare conditions and there’s not a group for all of them so mum
and dad will often start something themselves and then in lots of
cases want to do some research, they want to answer some of these
questions.  So, you know, they’re really starting from a
very different beginning stage here where they’ve going to need
some help, and sometimes the best help comes from their peers, it
comes from other patient groups.  So that’s in a nutshell
what it’s about; it’s about providing opportunity for patient
groups to showcase their great ideas, build partnerships and take
research forward.  


Rona: The only thing just to add there is I think, although rare
diseases are individually rare, collectively, as Jo said, they’re
quite common, there’s 11,000 rare diseases, and often, although
they all have distinct features, there are common threads through
rare diseases in terms of maybe symptoms that patients experience
or challenges that their rare disease brings.  So, for
example, you may have symptoms of pain or seizures that are
common across many conditions, there may be educational needs
that are threads going through.   And groups could work
together maybe to answer a question that’s relevant to a number
of conditions and so bringing people together for that.  Or
there may be another group that’s already tried to answer that
question in their condition and you can learn what worked, what
didn’t work.  I think that’s the other thing, is there will
be common threads that come through, and I think that would be a
real strength of the network to draw those people together.


Jo: I think as well, Mel, if we take this back to what we said
right at the outset about optimising success for patients by
bringing them into the conversation early, I think this platform
provides the perfect opportunity to do that.  So we’re
moving away from, we’re really turning research on its head,
moving away from it being a researcher-led activity where they
decide on the idea and the research concept and bring patients in
at different points along that research journey and instead
starting with the patient’s idea in the first place.  It can
only be a better system for all because it improves efficiency,
it improves potentially the long-term outputs and, most
importantly, outcomes for patients. 


Mel: We were that family, that mum and dad setting up the charity
a year and a half ago for the ultra-rare disease that our
children had.  I think, you know, the match-making
opportunities that are here are fantastic because finding
yourself in that position is incredibly isolating.  And not
only the matchmaking opportunities with the researchers but, as
you were saying, Rona, as well with similar diseases; there’s so
much to learn from other diseases that may have, I don’t know, a
similar phenotype in the cells or similar symptoms.  That’s
what we found from connecting with these other rare
conditions.  So, for us it’s lysosomal storage diseases,
we’ve now got the opportunity potentially to piggyback on drugs
better used for their diseases for our own ultra rare condition,
you know, where for us to run a full-on clinical trial by
ourselves with a new drug, I mean, we just wouldn’t
have,  there’s no funding, there’s not enough
interest.  So, I think the opportunities that lie in this
network are really, really exciting.  Jo, can you tell me a
bit more about who can join the research network? 


Jo: So anyone with a rare disease research interest. That’s
everybody from individuals affected themselves, their family
members, their caregivers, the patient organisations, that
support them, and then, you know, all sorts of rare disease
professional researchers.  So, we’re looking for PhD
students who are looking for their first exciting project to
undertake, have they taken a look at the Rare Disease Research
Network to see if there’s any ideas that might pique their
interest.  We’re looking for established researchers,
medical professionals who are undertaking clinical research but
also I think, importantly, companies.   You know, we
hear more and more about concepts like drug repurposing for rare
diseases where we’re looking at the opportunities for taking
drugs that already exist and have been proven safe to be
redeployed to other rare diseases. It’s quicker, it’s more
efficient, it’s cheaper, so does it open up opportunities for
companies that are using that technique to get involved. 
And also pharma companies.  This platform is not all going
to be about finding cures and treatments but it certainly will be
a priority for some groups.  So we really are welcoming
everyone with an interest in rare disease research to get
involved, be part of the network, collaborate, help where you
can.


Rona: And also, as we’ve said before, once you’ve got that level
of engagement and the patients leading these initiatives we’ve
found, certainly with our group, the patients are much more
willing to, say, find the MRI scans for the scientists, to have a
blood sample done, to have skin fibroblasts taken.  If they
know and they understand and they’re driven and, as you said, the
research idea has come from them as a patient group it certainly
increases the chance of them being fully involved in the project
from the start to the finish.  And all these things are
imperative to understanding rare conditions because without
researchers having the opportunity to look at these various
samples you’re not going to stand much of a chance of finding a
treatment. 


Jo: And we want the opportunity to upskill patients as
well.  I think there are many people out there with great
ideas who haven’t yet found the confidence to promote those ideas
because they’re not quite sure of what the research journey looks
like or what it might entail or whether they’ve got the right
skills.  But I think by joining the platform and almost kind
of watching how other people are managing these things and
utilising the resources and the mentoring I do really hope that
will build that confidence and those skills sets in people so
that they can engage. 


Rona: Yeah, just to add to that, I don’t think it’s just
upskilling patients and patient groups, I think it’s upskilling
everybody involved in rare disease research.  This is quite
a different way of approaching research, it’s something that
maybe academics may feel a little bit uncomfortable with, it’s
not how it’s normally done, so I think there’s a whole learning
process.  And the aim is that this RDR network will evolve
and will develop and the direction it goes will be driven by the
community that are engaging with it.  So I think it’s a
really exciting time just as we’re coming up to launch to see
where this goes. 


Jo: Mel, you’ve been involved in this project, it would be really
interesting actually to hear from you. I was just thinking, as
part of the co-creation community we had 25 individuals from the
rare disease community who built this platform from scratch with
us; Rona and I might have set out all the vision for how we
wanted the platform to be or what we thought might be a good idea
but ultimately it was the community who decided and they
literally have fact-checked and cross-referenced every word
that’s gone on the platform. What has that experience been like
for you as a patient representative? 


Mel: I think it’s been really welcome to see a network that is
truly putting patients at the centre of everything.  So,
from the very beginning foundations you have the rare disease
community involved which is exactly what you’re trying to create
through your network.  So, I think it’s been very welcome to
be involved in the project and I also think that hopefully it
will sort of be self-perpetuating that this will start to press a
reset button on how we think about rare conditions and how it
needs to be a more equitable field with patients.  Because I
think, as you’ve both alluded to, while some clinicians and
researchers are very onboard with this, for others it’s a new
concept that they still need to potentially adjust to or get
their head round because it is a different way of thinking. 
But in rare disease, well, in any condition really but
particularly rare disease because there’s so few experiences to
draw on, I think that patients are vital to moving forward and to
making that change so that diseases and conditions that have
previously had no treatment, like, hopefully this way of thinking
can expedite those treatments because, well, as a rare disease
representative myself for our community that’s one of our biggest
drivers.  We’re dealing with a condition that’s progressive
that affects most of our community’s children; that is what we
want, we want treatment, we want something that can stabilise the
conditions.  You know, you can have researchers doing random
projects that would make no difference to the final outcome of
patients but if researchers know it’s a priority of this
particular group, hopefully that can channel in their focus and
get the outcomes that the patients want in a more timely
collaborative way.  So, I am a huge advocate for what you’re
doing, I think it’s an incredible initiative.  Is there
anything either of you would like to add to that?


Rona: Rare disease disproportionately affects children and young
people.  So, 7 out of 10 rare diseases develop in childhood
and at the moment the Rare Disease Research Network hasn’t really
got a forum for including children and young people, and really
that’s partly because, and Jo can speak much more eloquently to
this with her experience.  Actually, we didn’t do that at
the start because we feel that this is actually a discreet piece
of work that really needs to be done in collaboration with
children and young people to make sure that it’s done well so
that they can engage in the platform. So, Jo, I don’t know if you
want to talk about how we’re hoping to take this forward. 


Jo: Yeah, so we’re busy developing a project plan at the moment
which we’re hoping to get funding for to work over eighteen
months with a team of young adults with rare conditions, probably
from our Unique Feet community and keep it local because we
already have a good relationship with them and they have our
trust.  But the idea would be to work with lots of other
young people’s forums.  So there’s already ones established
in and around our area, such as Pedal, which works with really
small children, and there’s also groups that are set up for young
people with cancer.  So we’ve already had lots of great
conversations with them about how we can work with them, how they
can help us sense-check our project, and then in return we can
help them better understand research and their ability to be
involved in that.  But ultimately by the end we want to run
focus groups, we want to develop some peer mentors within our
community, so young adults who’ve, you know, perhaps come out the
other end of a period of transition into adulthood who can
support other young people with rare diseases to also become
researchers, to come up with their own ideas and their own
questions, and to sense-check projects that come through the
platform.  So it’s a really exciting opportunity to truly
involve the people who are affected most by rare conditions but
we know through our My Story, My Way project that this has to be
done gently, carefully, given time and done really
thoughtfully.  So that’s our next step and we hope to be
able to share those learnings with people so that it can be done
elsewhere. 


Mel: And do you see the network also working with children with
learning differences?


Jo: Absolutely.  We’ll invest a lot of time and energy in
ensuring that materials are accessible, inclusive and suitable
for the community that we’re working with. 


Mel: So looking to the future, how do you think, Rona, can
patient-led research help to shape the future landscape? 


Rona: So I think, Jo used the term earlier, kind of this is
really turning research on its head, so it’s really putting
patients right at the centre of research, so it just makes sure
that it’s absolutely driven by what matters to them to get the
outcomes that matter.  And, again, it’s just got all that
benefit of efficiency and really answering those questions that
matter. 


Mel: And, Jo, do you think this could lead to more collaborative
partnership, for example, between industry and academia,
potentially leading to quicker clinical advancement?


Jo: I would absolutely like to think so.  You know, as
CamRARE we run a companies forum which is a roundtable meeting
for pharma and biotech companies and other organisations like
Genomics England who are involved in the rare disease therapeutic
space and diagnostics, and I think one thing that I find really
heart-warming about those meetings is that, you know, different
companies are able to sit around a table as competitors but with
a very open mind to addressing the barriers and the bottlenecks
that prevent them from getting drugs to patients.  Because
of course it’s not just the research journey that’s a challenge,
it’s the regulatory side of things at the end of that journey;
just because you’ve created a great drug it doesn’t matter in the
end if it doesn’t get to the patient.  So, you know, access
is critical and involving patients at the earliest possible
moment to ensure that that treatment gets through to the
regulators and gets access to patients is the only way
forward. 


We had a recent companies forum meeting where we were exploring
health-related patient reported outcome measures, or PROMs, and
we had a speaker from NICE who’s the regulatory body, we had a
speaker from Sheffield University who was talking as an academic
about developing PROMs for industry and for patient groups and we
had Emily Reuben, the CEO of Duchenne UK, and we had an amazing
discussion about the importance of involving the patient
community from the outset.  And the academic explained that
developing a PROM for Duchenne UK had taken them two years and it
had taken them that length of time because they’d followed this
careful thoughtful pathway of making sure that they didn’t assume
anything about what matters to patients.  But that of
course, as we said earlier, involves time, it involves financial
commitment, it involves resources and the right attitude, but I
do think that a platform like the Rare Disease Research Network
can really try to harness all of those things by bringing the
right people together – industry, academia and patients – to work
together equitably.


Mel: And with the network do you think you’ll be getting the
regulators in at that initial stage as well so that, like you
said, the patients can gain access while we’re dealing with their
priorities, the regulators are informed at the very earliest
stages so that we know the process that’s being followed will
ultimately lead to patients gaining access to the relevant
therapies? 


Jo: Yes, I think this is really important, and there’s actually,
we’ve got a section on the new platform which really talks to
each of the different stakeholders.  ‘What’s in this for
me?’  ‘Why is it important for you to be here and to
join?’  And one part of that is funders and that includes
the regulatory bodies.  And at the next companies forum
meeting we’re actually going to be bringing the Rare Disease
Research Network Platform and its potential to the companies
forum meeting and we’ll have regulators involved in that. 
So, you know, we are constantly talking to people about why it’s
important for them all to be involved and all to see what
matters. I think I’d like to advocate for an extra letter at the
end of PPIEP - if we could squeeze a D in there at the end
too.  So over time that terminology has expanded to be
Public Patient Involvement Engagement and Participation, which
was added I think this year, but it would be lovely to have the D
on the end and to include ‘Driven’ because I think what’s really
important about this platform is that it’s not just engagement
and involvement, it’s not just participation, it’s initiated by
and driven by patients.


Mel: So I think we’ll wrap here.  Thank you to our guests,
Jo Balfour and Dr Rona Smith, for joining me today as we discuss
the role of patients in setting research agendas.  If you’d
like to hear more like this, please subscribe to Behind the Genes
on your favourite podcast app.  Thank you for
listening.  I’ve been your host, Mel Dixon, and this podcast
was edited by Bill Griffin at Ventoux Digital and produced by
Naimah Callachand.