RAREsummit21: Spotlight on how we can create positive industry and patient group partnerships

RAREsummit21: Spotlight on how we can create positive industry and patient group partnerships

Spotlight on how we can create positive industry and patient group partnerships

RAREsummit21 logo for website menu only

On 7th October 2021, we’re holding our 5th RAREsummit – CRDN’s flagship event – bringing together more than 300 great minds in rare diseases to make connections, exchange ideas and openly debate possibilities.

One of the key areas we’ll be exploring is how far patient group and industry relationships have come over the last five years – and why collaboration between the two is so vital when it comes to driving forward progress in rare diseases. Through a mixture of talks, panel discussions, fireside chats, workshops and Q&As, we’ll be sharing some inspirational examples of how advocacy groups and companies have been working together to achieve fantastic results.

Advocacy groups for rare diseases have become more than voices; they are an essential source of transformational therapeutic advances. Increasingly patient groups want to be involved in the drug development and tech solution process earlier and more often. From bringing their expert patient or caregiver insights to clinical trial design to ensuring acceptable protocols and helping to raise awareness of ongoing clinical trials, or mounting viral disease awareness efforts that help to condition the markets, today’s patients are increasingly empowered and savvy – and they offer a powerful voice.

With the rise of social sharing online, traditional boundaries are evaporating. Companies are now actively listening and engaging with patients from the outset – and are working out how to make sure these collaborations are as impactful and effective as they can possibly be.

Cambridge Rare Disease Network - RAREsummit21: Spotlight on how we can create positive industry and patient group partnerships 1
photo of Alex Lloyd
Image: Alex Lloyd from Eastern AHSN

Collaborating to find innovative solutions

One of the organisations we’ve partnered with for RAREsummit21 is Eastern AHSN (Academic Health Science Network). At last year’s RAREfest, they asked people living with rare conditions what their biggest everyday challenges were. Our community spoke and we listened. The innovation community has responded with tech and digital solutions to help with care coordination, wellbeing and mental fatigue – or ensuring health information is done well. At RAREfest21, we will get the opportunity to hear five of the best solutions presented live. Innovators will but put through their paces in a dragon’s den style session by judges Lou Jopling – Commercial Director at EAHSN, rare disease policy expert Alastair Kent, Sean Richardson the General Manager of Alexion Astra Zeneca, founder of Timothy Syndrome Alliance – Sophie Muir and CRDN’s Chair, Dr Gemma Chandratillake. It is set to be a riveting session!

Alex Lloyd, Principal Advisor and Commercial Delivery Lead for Eastern AHSN, told us:

“We work with so many incredible innovators whose great ideas have come from a variety of sources. Often an idea comes from clinicians who have spotted an unmet need, or a technical expert who understands how technology can be applied in different ways to help different patient groups. Some of the best ideas, however, come from the lived experiences of patients and their families.

The first step in alleviating a problem is understanding it, and who knows the impact of a rare disease better than somebody living with one? That’s why we’ve collaborated with the CRDN to engage with the rare disease community to really listen and understand the issues they face daily. We found that one of the biggest challenges was access to clear, reliable health information about rare diseases, whilst many struggled with disjointed care. Another common theme was the impact a rare disease can have on an individual’s wellbeing, with many people suffering from mental fatigue.

By gathering these insights, finding common themes and developing them into challenges, we’re able to work with innovators to find solutions that have a real impact in improving the lives of people with rare diseases and their families. We hope to demonstrate the value of starting with listening to the community, empowering them to shape healthcare services to provide real benefits for people with rare diseases.

At RAREsummit21, we are giving the five most promising innovations a unique opportunity to pitch their idea in front of a live audience and gain valuable feedback whilst creating connections to help them take the next steps in their innovation journey to deliver impact.

We believe that citizens, academia, health services and industry will achieve so much more working together than they will in isolation and we’re excited and honoured to be involved in RAREsummit21.”

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AMPLIFYING patients’ voices 

At RAREsummit21, we’ll also be hearing inspiring examples of how patient groups are making their voices heard. We’ve been collaborating on a brilliant project with Prime Global to help patient groups develop impactful posters and pitches for the gallery on our virtual platform.  The passionate Emma Sutcliffe from Medical Communications agency Prime Global will be running a session that shares the work they’ve undertaken with these groups and and why it’s essential to amplify the patient voice through these Patient Voice Publications.

Amy Sharples from Prime Global told us: “Patient Voice Publications tell the patient story – from real world experience and burden of disease to hopes for the future. They are stories told by patients for pharma, to focus on what matters. Ultimately, this leads to the triple win – better outcomes for patients, for pharma, and for society.”

At the session, you will hear how these publications are having a real-life impact for patient groups, as Jess Duggan – mum to a child with SYNGAP1-related NSID (non-syndromic intellectual disability) explains: “Taking our story to pharma via Patient Voice Publications helps us raise awareness and highlight what’s vitally needed so that we can work together to deliver better support, diagnosis, treatment, outcomes, and hope, for patients and their families.”

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photo of Sophie Muir
Image: Sophie Muir Chair of the Timothy Syndrome Alliance 

Can serendipity catalyse better collaborations between patient groups and INDUSTRY?

Is serendipity is enough when it comes to developing impactful collaborations between patient advocacy groups and industry? Can systematically linking stakeholders in the right setting help to catalyse better collaborations?

To test this hypothesis, CRDN recently ran a partnering event through their Companies Forum between rare disease patient groups and companies.  Sophie Muir, Chair of Trustees from the Timothy Syndrome Alliance took part and said “There are many overlaps with rare diseases. Bringing stakeholders together to share experiences increases opportunities of contacts and knowledge for both patient groups and industry.” 

At RAREsummit21 we’ll be showing a short film on demand, the story of an ultra rare epilepsy patient group, Ring20 Research and Support, and their collaboration with sequencing specialists Illumina.  Ring20’s CEO Allison Watson gave a moving talk to attendees at CRDN’s RAREsummit in 2019, a talk which challenged industry to help unravel the diagnostic odyssey for their children. This call to action led to a serendipitous meeting with a representative from Illumina over lunch, and from there the collaborative UNRAVEL project was born.  Allison said:

“We’ve started an internal scientific collaboration, which has evolved from discussions with companies following your CRDN RAREsummit last year and also involves another company following CRDN’s invite for me to present at your Companies Forum – so your events have a HUGE amount of value to us!”

We’re big believers in the power of our network to connect the right people and give patient groups the platforms  they need to  tell their stories to the right people in the right way. 

Collaborating, listening and educating effectively with patient groups

Last but very much not least, we’re honoured to welcome a panel of speakers hosted by Naomi Litchfield, patient advocacy lead at Bionical EMAS, to explore Early Access Programs: collaborating, listening and educating effectively with patient groups.

Naomi will be joined by Christine McCracken of Head, Patient Strategies & Solutions, Janssen Pharmaceutical Companies of Johnson and Johnson and Alix Hall, Managing Director of the Isaac Foundation in Canada to discuss best practices for meaningful patient engagement with pharma and patient groups, drawing on the example of an Expanded Access Guide created for patients as a resource to support understanding on expanded/early access in each individual country. The guide was put together through strong collaboration between pharma and patient groups in response to patient and family requests for a resource on this topic. Naomi told us:

“Partnerships between pharma and patient groups are so vital for many reasons that I am extremely passionate about. Listening and engaging with patients in order to achieve positive, mutually beneficial relationships is a fundamental part of rare drug development. Drug development for patients must be with patients – incorporating all their unique experiences and perspectives.

 RAREsummit is a wonderful platform to listen, learn and engage with the rare disease community. We can learn a lot from listening to each other’s experiences and perspectives, I am most looking forward to hearing the rare community’s stories and their thoughts on positive pharma and patients partnering.”

Do come and join us at RAREsummit21 on 7th October 2021 to hear from Alex, Amy, Sophie, Naomi and 300 of the greatest minds in rare disease. All summit content – talks, exhibits and gallery are available for 30 days following  to ticket holders. 

Bionical EMAS Naomi Litchfield presenting
Image: Naomi Litchfield Bionical Emas 
Bionical EMAS Naomi Litchfield presenting
Image: Naomi Litchfield Bionical Emas 

Collaborating, listening and educating effectively with patient groups

Last but very much not least, we’re honoured to welcome a panel of speakers hosted by Naomi Litchfield, patient advocacy lead at Bionical EMAS, to explore Early Access Programs: collaborating, listening and educating effectively with patient groups.

Naomi will be joined by Christine McCracken of Head, Patient Strategies & Solutions, Janssen Pharmaceutical Companies of Johnson and Johnson and Alix Hall, Managing Director of the Isaac Foundation in Canada to discuss best practices for meaningful patient engagement with pharma and patient groups, drawing on the example of an Expanded Access Guide created for patients as a resource to support understanding on expanded/early access in each individual country. The guide was put together through strong collaboration between pharma and patient groups in response to patient and family requests for a resource on this topic. Naomi told us:

“Partnerships between pharma and patient groups are so vital for many reasons that I am extremely passionate about. Listening and engaging with patients in order to achieve positive, mutually beneficial relationships is a fundamental part of rare drug development. Drug development for patients must be with patients – incorporating all their unique experiences and perspectives.

 RAREsummit is a wonderful platform to listen, learn and engage with the rare disease community. We can learn a lot from listening to each other’s experiences and perspectives, I am most looking forward to hearing the rare community’s stories and their thoughts on positive pharma and patients partnering.”

Do come and join us at RAREsummit21 on 7th October 2021 to hear from Alex, Amy, Sophie, Naomi and 300 of the greatest minds in rare disease. All summit content – talks, exhibits and gallery are available for 30 days following  to ticket holders. 

New Scientist magazine: Rare disease campaign 2020

New Scientist magazine: Rare disease campaign 2020

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CRDN were delighted to recently take part in a new Rare Disease campaign in the New Scientist Magazine published on 24 Sept. It is dedicated to raising awareness of rare diseases featuring exclusive content from key thought leaders (including CRDN!). It discusses the importance of collaboration in rare disease and the potential silver linings that can be found in the midst of a pandemic. You can pick up your copy in shops now or read our article and the full the rare disease campaign online here at Health Awareness.

Lucy McKay M4RD image
Cambridge Rare Disease Network - New Scientist magazine: Rare disease campaign 2020 5

“Dr Lucy McKay from M4RD, Rebecca Stewart from Rare Revolution and I came together in March 2020 with a mutual concern about how devastating the impact of COVID-19 an the global response to it was on rare disease. Concerns focussed around delayed diagnosis as genomic and medical  services were halted,  patients medical and social care crumbling around them and the prospect of  cancelled research and delayed clinical trails and drug approvals as resources were diverted away.  We shared a collective drive to make sure we learned everything we can about how the pandemic has affected those with rare diseases and rare disease services – the risks, but also opportunities such as the overnight opening up of networks by using digital communication.

From some initial discussion Action for Rare Disease Empowerment (ARDEnt) has grown – a collaborative multi-stakeholder group from across different sectors and industries. Because if we can’t all come together for rare disease now, when will we?”

Jo Balfour (Managing Director) 

Jo Balfour CRDN New Scientist Magazine

COVID-19 and it’s Impact on the Rare Disease Community: Insight

COVID-19 and it’s Impact on the Rare Disease Community: Insight

The COVID-19 pandemic has altered the lives of just about everyone, especially patients in receiving continued treatment and care. But what does it mean for patients who already have trouble accessing therapies or with finding and engaging with others like them?

The novel coronavirus, and the international response to the pandemic, pose significant and in many cases disproportionate threats to the rare disease community, given the vulnerability of those with chronic health conditions and the additional challenges being presented that affect their ability to weather this storm.

The rare disease community is one already facing significant challenges in obtaining early and accurate diagnoses and in accessing medicines and treatment, and their lives are all too often blighted by poor knowledge and understanding of their condition, leading to feelings of isolation and anxiety. They often have to navigate their way through unclear care pathways to obtain the support they and their families need; and now, with the additional threat of COVID- 19 on their health, the confusion and creeping isolation triggered by lockdown, and the stress placed on health systems, R&D and the pharma industry, the challenges appear more abundant than ever.


In the US, the National Organization for Rare Disorders (NORD)’s recently released COVID- 19 Community Survey Report reveals the far-reaching impact the pandemic is having on rare patients and families. 772 participants responded to the survey conducted by NORD’s research team from I April through 8 April, representing 49 of 50 states and Washington, DC across multiple disease categories.

The findings reflect a community directly affected and overwhelmingly concerned about the COVID-19 crisis. At 98%, almost all respondents were worried about COVID-19 and, it would appear, with due cause. Among the respondents, 95% said their families had been directly impacted due to COVID-19: 74% have had medical appointments cancelled; 59% had been offered a telephone or video call as an alternative to an in-person appointment; 69% were concerned about medication and medical supplies being in short supply; 29%  had lost employment temporarily or permanently, and 11% of those job losses resulted in loss of health insurance too.

EURORDIS has released the preliminary findings of its first multi-country survey on how COVTD-19 is affecting people living with a rare disease, concluding that “the pandemic greatly hinders access to care”. They report that 5,000+ rare disease patients and their family members from all EU countries and beyond, representing 993 diseases, responded to the survey carried out via their Rare Barometer Programme. The preliminary results are based on survey responses submitted between 18 and 28 April and very similar themes emerge to those noted in the US.

EURORDIS reports that since the beginning of the COVID- 19 pandemic, nine in 10 rare disease patients have experienced interruptions of the care they receive for their condition and three in 10 perceive that these interruptions of care could definitely (one in 10) or probably (two in 10) be life-threatening. More than half of those awaiting surgery or transplants have seen these interventions cancelled or postponed and 80% have seen their appointments for rehabilitation therapies such as speech and physical therapies – sometimes the only therapies available when treatments are not – postponed or cancelled. Patients who usually receive care in hospitals are experiencing specific difficulties, with almost three in 10 reporting that the hospital or unit that normally provides care for their rare disease ls closed. Half of respondents had participated in online consultations or another form of telemedicine since the start of the pandemic; this is new for two in 10 patients. Almost nine in 10 of those utilising this type of consultation are happy with the experience and that it has been very or fairly helpful. In addition, the survey found that almost six in 10 reports they no longer have access to medical therapies such as infusions, chemotherapy and hormonal treatment at home or in hospital. More than 60% have lost access to diagnosis assessments such as blood or cardiac tests and medical imaging that arc often a vital part of their daily care. Close to seven in 10 have seen their appointments with the general practitioners or specialists cancelled, and almost six in 10 have seen their psychiatry follow-up interrupted.


Rare disease stakeholders from healthcare, patient advocacy groups and the pharma and regulatory industry from across the UK have been sharing their insights into disruption, risks and opportunities presented by COVID-19 in their sectors through a regular Zoom working group facilitated by Cambridge Rare Disease Network, Medics4RareDiseases and Rare Revolution Magazine. The group have identified a number of additional concerns for the rare disease community which will affect early diagnoses, access to research and treatments.

A member of the group flagged that there will be no appointments with clinical geneticists in many areas as these staff have been redeployed, whilst some genetic counsellors may have been doing some appointments by phone, but it is likely they could be redeployed too. It was also raised that face to face healthcare professional rare disease education has also ground to a halt, and this, alongside die lack of genetic testing, raises concerns that timely and accurate diagnosis of rare conditions is further impacted.

Members of the cross-sector group raised concerns about disruption to clinical trials and appraisal of rare disease treatments by NICE with patients in need of new treatment left waiting. At least nine rare disease treatment single technology appraisals and highly specialised technology evaluations are known to be delayed and a number of clinical trials of rare disease drugs on hold. For parents with children needing rapid solutions to degenerative diseases, these delays can mean the difference between life and death.

The rare disease community is familiar with isolation, issues with accessibility, and having to adapt so they are closely watching for opportunities arising from this crisis which may work to their advantage in the longer term. They’re largely welcoming the sudden, rapid uptake of telehealth which could mean less time and money wasted on travelling to appointments. They are watching with interest the adoption of health wearables and technology to monitor health in the home and hopeful that clinical trials may become more accessible if pharma companies adopt more virtual monitoring techniques in the future. They are also expectant that a rise in e-learning for health care professionals in bite-sized chunks will lead to a flurry of rare disease education packages and a more aware and knowledgeable community.


The Cambridge Rare Disease Network provides a window into the current experience of the rare disease community, and we catch up with three previous Pharmafocus contributors to see how the UK lockdown is affecting them.

Rebecca Pender’s daughter Hannah lives with the ultra-rare condition Inv Dup Del 8p: a genetic arrangement that affects just 80 people worldwide.

Rebecca Pender portait photo

Rebecca Pender portrait photo

Have you been able to access necessary medicines through your normal routes, or have you seen shortages or other difficulties during this time?

We’ve struggled with getting access to one particular drug: IV Ativan. We normally source through the local pharmacy or hospital pharmacy, but both have had issues in providing medicines. We’ve also had delays with Lamictal, but not as long as with IV Ativan. We’ve also had several diagnostic appointments cancelled with no indication of when they are
likely to be rescheduled. All our appointments have been conducted over the phone except the ones which were cancelled, but I feel these could have been telehealth appointments too.

How are you and Hannah coping with having to stay inside during the lockdown?

Being so isolated from our support network has been difficult, especially as we are shielding for Hannah. The change of routine has been the toughest on the kids, especially for Hannah as with her learning disability she doesn’t understand what’s going on. I am also 35 weeks pregnant, so it’s been so difficult being unable to share the journey with the family. When the lockdown came in, I was actually really glad that rare disease patients were included in the shielding group. It felt like a win as so often in the rare disease community we fight for visibility, and this time we were seen and protected from the outset.

Do you have any concerns about the treatment of rare disease patients during this period?

People in the rare disease community are rightly concerned that they are at the back of the queue for lifesaving and life-prolonging treatments. I’m also concerned at the amount of rare disease patients who are being bullied into signing ‘do not resuscitate’ documents, and how many are being refused lifesaving medications and equipment supplies because of apparent lack of stock. Because so much is unknown with COVID-19, but also unknown with rare diseases, it’s even more of an enigma as to how the two will interact. Our rare disease causes learning disabilities, not an acute illness, so it’s worrying that our rare disease could be used as an excuse to withhold treatment.

Vaila Morrison’s nine-year old daughter Eilidh (Ej) was born with the ultra-rare condition KAT6A. 

Unique Feet Vaila and Eilidh go horseriding

Unique Feet go horseriding

Have you had difficulty in getting hold of any medications that Eilidh needs since the lockdown began in the UK?

EJ is currently taking a supplement to aid her metabolic function. It’s a drug that has to be prescribed via hospital rather than primary care through a GP, and strangely that’s meant it has – so far! – been easier to access during this time. Normally its a bit of a marathon of phone calls to get the prescription, check the pharmacy has it in stock and then make a trip to visit the hospital outpatient pharmacy. The last batch of three months’ worth was delivered by the hospital pharmacy to our door within 24 hours of calling the consultant’s secretary.

Self-isolation has been trying for everyone, but it must be doubly so for rare disease patients. What has been your experience?

EJ has profound learning disabilities and doesn’t understand the reasons behind staying at home at this time. She obviously misses her friends and the fantastic staff at her school, and is missing out on all the specialist equipment and activities. However, shes a very content and happy person so she’s not been fazed at all by spending more time at home. We are very lucky to have a garden so she can spend a lot of time outdoors to provide a bit of variation, as well as some fresh air and vitamin D. The main challenge for us is balancing the differing needs of everyone in the family. EJ is in the shielding category, and as it’s impossible for us to social distance within the household, that means we are all shielding together.

Have mobile health solutions helped you overcome some of the challenges of getting health advice?

EJ had an annual multi-team review at the beginning of the lockdown phase. This was able to go ahead via phone consultation with us at home and the paediatrician, school teacher,
school nurse and physio at school. This ended up being really useful as we could ask some COVID-19-specific questions about what category we should consider EJ to be in, and they were able to advise us of a SEND-specific helpline they were intending to implement to support families like ours.

Many rare disease patients must be in a similar situation right now. Have you been in touch with other patients or carers during this time? Has it helped to break the isolation?

We’ve been part of SWAN UK since before EJ was diagnosed. We’ve found it to be a fabulous support network for families with children with undiagnosed conditions. It’s mostly via an online forum as the network is national and we are all sprinkled across the country. This has meant the mechanism for staying in touch hasn’t had to adjust on the whole, as we are all used to chatting via a Facebook group. This has been a great source of info on how people are coping and accessing services. We are also members of a super local network of families. Unique Feet is a group for families of children with rare diseases run by the Cambridge Rare Disease Network (CRDN) in Cambridgeshire. We do chat on line, but normally would be meeting up to do a variety of fun activities with the children. CRDN has been brilliant at adjusting to circumstances and have set up zoom yoga sessions and sent out two activity bundles to the children, including postcards for the children to keep in contact with each other. Being able to chat with other parents, locally and nationally, has been so useful for questions about health, staying safe, access to care and also practical things like how people shielding manage to get shopping delivery slots!

I’m sure you share the same concerns as all of us for your personal health and of those close to us, but is there another level of anxiety for rare disease patients when it comes to catching the virus?

We are fortunate that EJ has never had a particular predisposition to chest infections; however, very little is actually known about her rare condition. There are only about 200 cases identified so far worldwide so it’s ultra-rare. Eilidh has had heart patch surgery in the past and there seems to be a metabolic element to her gene change, so there’s always a worry that we don’t know how her body will react to a new disease. The emergence of information about children being affected by inflammatory disease related to COVID-19 is a particular concern. There is a real concern that in the event of an overwhelmed system, any-one with certain age-related “frailties” or an “underlying health condition” is potentially going to be offered palliative care rather than active treatment.

This concern extends to those with learning disabilities. Despite a number of statements from the top level to say that learning disability should NOT be considered as a reason not to treat I can’t help but worry that there’s still an unconscious – sometimes conscious – prejudice against those who don’t fit the ‘normal healthy person’ bracket and an assumption about their quality of life. There’s been quite a number of worrying articles about ‘do not resuscitate’ orders being placed without loved ones’ knowledge; care homes for people with learning disabilities not having access to testing and PPE and figures recently reported by BBC Breakfast about the higher rate of death due to COVID-19 among those with learning disability. As EJ has profound and multiple learning disabilities (PMLD) as part of her genetic condition, its therefore of huge concern to me that if the system is overwhelmed, she might not get access to the same care as a typical child.

Based on your first-hand experience, what do you think needs to be done to address the needs of rare disease patients during this unprecedented time?

As at any time, the healthcare system needs to look beyond the average person and ‘the way we normally do things’ and strive to ensure patient-centred care. Listen to rare patients and their families, who often know as much, if not more, about their particular condition than any health professional. Work with us, and please don’t make assumptions!

 

Pharma Market Europe Award Winners for RAREfest18!

Pharma Market Europe Award Winners for RAREfest18!

We are feeling very humbled and proud to have learnt today that Cambridge Rare Disease Network (CRDN), with the support of med comms company Havas Life Medicom, were awarded winners of a ‘Judges Special Recognition Award’ at the Pharma Market Europe Awards #PMEA2019 last night.

The impressive achievements in pharmaceutical marketing excellence were recognised at the annual PMEAs at the Royal Lancaster London Hotel, with the exciting introduction of a new award for 2019. 

The annual PMEAs, now in its 19th year, had its highest number of entries yet, with the largest range of companies entering the competition in almost two decades. This was reflected in the number of attendees at the event, with an impressive 430+ industry professionals present on the night.

Keynote Speaker Mark Ormrod, an ex-Royal Marine, Invictus Games competitor and author, kicked off the night with a moving and inspiring view of his life since being injured. The main awards ceremony was hosted by broadcaster and presenter Fergus Walsh, who caught everyone’s attention with images of his brain scans!

There were a total of 15 categories this year – the entry criteria and categories are reviewed each year to reflect the ongoing changes in the dynamic healthcare landscape. In addition to the main categories, there was also a surprise award this year, The Judges’ Special Recognition Award, which reflected the impressively high standards of the entries received. 

It is wonderful to see a small charity such as ours being recognised with a Judges Special Recognition Award for our RAREfest18 arre disease inspired festival at such a prestigious event.

This year, the judges decided that they wanted to recognise two particular entries that stood out as interesting, fresh and different. Both these entries had great merit beyond the criteria for the categories in which they were entered. They both demonstrated breakthrough thinking and facilitate hope for future care. The two winners of this impressive award were Cambridge Rare Disease Network and Havas Life Medicom for their entry RAREfest, and King’s College London and Four Health for the GLAD I Took Part campaign.”

Dr Paul Stuart-Kregor, PMEA chair of judges 

We hope this inspires others to see that with creativity, self-belief, passion, probono support and sponsorship from companies, and a huge team effort, we can all achieve great things for those affected by hashtag#RareDisease This award is for all of those who took part – the Cambridge Rare Disease Network (CRDN) and Havas Life Medicom teams, Suzanne Morris, Lindsey Brown, Kay Parkinson, Natalie Electra Karaminas, our Unique Feet children’s group and their families, our speakers, exhibitors, volunteers, film-makers, schools poster competition entrants and artists.

#teamwork #partnership

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RARESummit 2019 – Patients as partners

RARESummit 2019 – Patients as partners

Wellcome Genome Campus hosts CRDN RARESummit 19

PASSION LED US HERE 
A crisp, bright September morning in the calming woodland setting of the Wellcome Genome Campus, Cambridge welcomed a chattering, excited collection of rare disease stakeholders from across the UK and Europe for the long anticipated CRDN RAREsummit19. 

For the team at CRDN, September 23rd was the culmination of a busy year of planning and creating,  a process  driven by a passion to move towards a world  where rare disease is at the top of the mainstream agenda and patient are involved as partners in the many design and development processes which impact on their lives. RARESummit19 brought together patients, patient advocacy groups, researchers, health care professionals, tech and pharmaceutical industries,  all leading the way in pioneering partnerships to accelerate change. This year’s venue, the prestigious Wellcome Genome Campus, was a move from our central Cambridge location and a fitting new venue for RARESummit19. We needed more space to cater for a growing number of  attendees – a 58% increase on our inaugural summit of 2015, a brighter and more welcoming exhibition space to showcase more organisations and companies and better accessibility features which sometimes only a modern setting can bring. Home to some of the world’s foremost institutes and organisations in genomics and computational biology, WGC is committed to delivering life-changing science and we felt was the perfect location to make progress in rare diseases.  

Delegate feedback on this change in location was encouragingly positive “Absolutely superb venue and facilities, plenty of room for exhibitors, delegate interaction in breakout sessions and of course, first class auditorium and AV – so important to clearly hear and see every speaker”. But of course, that doesn’t mean we’ll rest on our laurels and we appreciate the feedback about tweaks we could make within the venue to improve things.

We welcomed a number of returning exhibitors and some who were exhibiting for the very first time. The quality and wealth of information, education and support was outstanding – a real testament to the work being done day in and day out by  passionate stakeholders within the rare disease field.

It’s always a pleasure to see representatives from all stakeholder groups in attendance. Diversity in attendance is vital to the success of collaborative and open discussions. The buzz over lunch was testament to the great networking taking place and audience participation was at its highest ever via our event technology Glisser. 199 people logged in to download slides on their devices, ask questions and respond to polls. An astonishing 155 questions came flooding in and 1227 votes were placed during polls.  Thank you to all who attended and contributed so meaningfully in so many different ways. 

MORNING SESSION: Patients as partners in searching for treatments and cures 

Patient engagement and partnership is crucial in the development of drugs and products for the bio- pharmaceutical industry. There has been a move towards a more patient-centric approach by industry over the last few years to varying degrees of success. During the morning session we wanted to shine a light on those relationships that were leading the way and discuss what the future might hold for rare disease patient collaborations.

Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 7
Dr. Jonathan Milner
© CRDN 2019

Opening remarks

 Dr. Jonathan Milner, CRDN Trustee, Abcam founder and biotech entrepreneur opened the summit and set the scene for an “exciting day ahead”. Dr Milner praised the wealth of expertise that had come together in one room and stated, “it is the motivation of making a difference to patients which unites us.” With the enormous rate of scientific progress and patients taking their health care into their own hands it is an exciting time for genomics and Dr Milner impressed on the audience that for CRDN, an important part of their work was to incubate networks to allow for meaningful collaborations.  

Keynote Speaker

Alastair Kent, OBE presented  ‘From the margins to the centre: A personal reflection on progress for rare disease patients and families’, walking us through the history of scientific progress to demonstrate the speed at which science has advanced rapidly over the last 25 years. He highlighted the 100,00-genome project as a “research milestone” and provided this poignant quote by William Harvey to demonstrate how “rare diseases provide key insights into how our bodies work.”

“Nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows traces of her workings apart from the beaten path; nor is there any way to advance the proper practice of medicine than to give our minds to the discovery of the usual law of nature, by the careful investigation of cases of rarer forms of disease.”  William Harvey.

Rare diseases provide key insights into the way our bodies work.

William Harvey

Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 8
Alastair Kent
© CRDN 2019

Panel Discussion
No patient left behind, patient group partnering

Panellists representing a wide range of rare disease patient advocacy groups provided valuable insight into disruptive innovations and the importance of including patient voices at every step of the drug development journey.

Dr Ana Mingorance (CDO Lou Lou Foundation) gave a brilliant visual, accessible whistle-stop tour of the drug development process emphasising the importance of patient groups in this. Charity leaders then shared their successes in working within this process, and the barriers they faced. Carina Thurgood (Co-Founder of Maddi Foundation) battled against the isolation experienced when her daughter was diagnosed with SPG15 and was the only known case in the UK. She has since partnered with a research team at Sheffield Institute for Translational Neuroscience and raised thousands through public appeals and TV appearances to fund their research into a gene therapy. Next steps are to develop a natural history study.

 Allison Watson (Co-Founder of Ring 20 Research) described the challenges she faced finding a large enough cohort when working with an ultra-rare disease. She emphasised the importance of becoming a team player and how the voice of Ring20 has been raised by being involved in the ERN for rare epilepsies and being an EPAG rep. Tanya Collin-Histed (CEO at International Gaucher Disease) inspired the audience with their work ensuring that no Gaucher patient is left behind through their international efforts to support patients across the globe, their international registry development and willingness to embrace wearable health tech to gather much needed data.

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Dr. Paul Wicks
© CRDN 2019
Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 10
Dr. Nick Sireau
© CRDN 2019

Moderated Discussion
Disruptive technologies  

Dr Tim Gulliams (Founder of CRDN, and CEO & Co-Founder of Healx), Dr Andy Richards (Digital Health Entrepreneur), Dr David Brown (Co-Founder and Chief Scientific Officer at Healx), Elin Haf Davies (CEO at Aparito) and Dr Pete Chan (Head of Research at Raremark).

Here the importance of technology was discussed including how the internet allows patients and science to connect more readily than before and how Google has been an agent for empowerment. Their discussion covered wearable technologies and their role in collecting “real time” real world data and how it is essential to listen to patients and families in order to document real world evidence beyond the consultation room. The panel discussed the pros of using technology to do the “heavy lifting” in data sorting to relieve the current burden from Doctors and nurses and improve outcomes for the rare community.

The Rare Summit was once again a great opportunity for patients, industry, academia and clinicians to come together to hammer out new ways of developing treatments for rare diseases.

Dr. Nick Sireau

CEO and Chair, AKU Society

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Elin Haf Davies
© CRDN 2019

The Google and Genomics are two technologies that have changed the understanding and opportunities available to people living with rare diseases. Moving forward with rapidly changing innovation we need to make sure that just because “we can” doesn’t mean “we should”. Ethics and patients, and not technology should drive what and how we do next.

Elin Haf Davies

Founder and CEO, Aparito

Moderated Discussion
Disruptive Innovation and Transformation – Patients at the heart of the drug development process

Dr Joanna Segieth (Takeda), Professor Chas Bountra (Uni of Oxford), Steve Rees AstraZeneca), Dr Daniel O’Connor (MHRA), Neil Dugdale (SOBI), Thomas Ogorka ( Orphan Reach) and Dr Nick Sireau (AKU Society).

This was a lively debate on the importance of working with patient groups and of open and transparent collaboration and working practises within the pharma industry.

Questions flooded in from delegates for this talk with the most upvoted question being “How do we get regulators, researchers and industry to work together to agree standardised endpoints that can be measured remotely?” followed closely by “Having worked bridging pharma with patients for 25 years, I’ve never seen Pharma behave poorly towards patients but I’ve seen ‘big’ patient orgs reject working with Pharma. Can we eradicate Pharma as the ‘panto villain’ and rewrite the collaboration story?” and “Is it only about the drugs? What about life science companies ‘developing’ health services for people in parallel to drug development?” If you were at the summit, the film of this discussion will be available to you soon to re-listen to the debate and we’ll be circulating some of the many unanswered questions for people to continue the discussion and share ideas.

Through partnerships, we hope that together we can build a better future with medicines that make a real difference to patients.

Dr. Joanna Segieth

Biosynetix Ltd, Rare Drug Development Solutions

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Dr. Joanna Segieth
© CRDN 2019

AFTERNOON SESSION: Patients as co-designers of technology and care 

Shining a light on some of the successful patient partnerships and collaborations that are making improvements in technology design, personalised care and clinical settings which improve accessibility, symptoms and lived experiences.

Short Talk
Co-creating genetic reports that are understood by
non-specialists

Dr Gabriel Recchia (Research Associate, Winton Centre for Risk and Evidence Communication, University of Cambridge), Dr Gemma Chandratillake (E & T Lead at the East Midlands & East of England Genomic Laboratory Hub) and Menna Hawkins (Polyposis Nurse Specialist).

This team have been working on a collaborative project with patients to redesign genetic reports and the way they are presented to patients to ensure they are patient friendly, thus allowing greater understanding from patients and families of their own genetic circumstances. 

Gemma asked the audience how useful a genetic report would be to them as a patient – 94% answered reasonably to very important showing a clear need for a more accessible design.

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Menna Hawkins
© CRDN 2019
Cambridge Rare Disease Network - RARESummit 2019 – Patients as partners 14

RARESummit demonstrated the power of patient-centred approaches [in technology, service-design, research, and drug development] to move things forward for those affected by rare disease

Dr Gemma Chandratillake

Education and Training Lead, East Midlands & East of England Genomic Laboratory Hub

CRDN Trustees, Dr. Sarah Leiter & Dr. Gemma Chandratillake
© CRDN 2019

Short Talk 
Patients as partners in assistive technology design – Collaboration and customisation is the key to success

Dr. Cecily Morrison and Dr. Sarah Leiter presented the result of their collaboration to our audience. Using assistive technology, they have created a new educational computer programming system for tactile learners. It was fascinating to see how Sarah’s lived experience of visual impairment gave the researchers a unique insight into the true needs of end users with low vision. 100% of the audience responded to the live poll asking if they felt end users should be included in the design yet only 34% had actually had that opportunity. Of those who had, 85% had a good experience. Cecily shared the inclusive design principles they use at Microsoft Research – recognise exclusion, solve for one,  extend to many, learn from diversity. 

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Laurence Wollard
© CRDN 2019

Short Talk
“Peer-Led to get ahead!” – Developing an education and self-management programme for and with young people affected by haemophilia

Laurence Woollard delivered a passionate presentation of his journey with haemophilia highlighting the lack of support when transitioning between paediatric and adult services and the challenge of becoming responsible for your own health care at a time of significant physical change. Laurence shared his belief that early intervention with peer led programmes could be the key to tackling this growing problem.

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Baroness Nicola Blackwood at RAREsummit19
© CRDN 2019

What matters to you?
What matters most?
We need a national debate on rare diseases

We were delighted to welcome the UK’s Minister for Innovation in Health, Baroness Nicola Blackwood, a passionate are disease advocate and the minister leading on the ‘National Conversation’ which will gather the views of all stakeholders to set the priorities for the UK Rare Disease Strategy 2020 framework. The Minister delivered a powerful and heartfelt talk drawing on her on experience of the diagnostic odyssey before being diagnosed with Ehlers Danlos Syndrome. Baroness Blackwood introduced the Hackathon Challenge, a cross sector team activity brainstorming their priorities for the new Strategy, inviting people to share their views. 

 

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Hackathon teams at RAREsummit19
© CRDN 2019

the RAREsummit hackathon

The final session of the day saw cross-sector teams thrash out ideas on problem areas in rare disease such as diagnosis, care coordination, research acceleration, early access and reimbursement and patient empowerment. Discussions were vibrant ad filled with knowledge and passion  culminating in five winning ideas being pitched to the whole audience. We were impressed with the far-reaching ideas the teams came up with and have gathered all of these, alongside all other suggestions made,  and will be presenting these as a report to the Minster in early December. Watch this space. … . 

 

Networking and Takeaways

As with all our events we see huge value in networking and we hope attendees found plenty of opportunities to  build on  established relationships and that doors were opened to new connections through this event. The rare disease community is a powerful one  and CRDN really felt this during this event.
While it by no means dominated the event the inevitable topic of Brexit rose its head and it was clear to see that this is already impacting our health service with shortages in health care professionals and a reduction in overseas talent both in health care and research applying to work here in the UK. Open collaboration was the call from the day and something patient groups want to see improve across industries.

A huge thank you to all who attended and to our sponsors, speaker and exhibitors! 

CRDN Companies Forum 2020: Connecting the dots

CRDN Companies Forum 2020: Connecting the dots

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Can CRDN’s Companies Forum 2020 connect the dots?

Active stakeholders in the rare disease forum are all too aware of the complex landscape that surrounds the development of treatments for such conditions. From small patient populations and lack of real-world evidence to the NICE Impact model (QALY) and big price tags, taking a drug from compound to the patient still remains an enormous challenge, where 95% of rare diseases currently have no viable treatment, a challenge that significantly burdens patients, families and indeed healthcare budgets.

COMPANIES FORUM: Recognising the Challenges

CRDN, at the heart of Cambridge and its world class life science heritage, recognised this challenge and the opportunities it presents for the charity to create a climate of positive and meaningful collaboration that could become a driving force towards improved outcomes for rare disease drug development.

Our first step in recognising the challenges in patient access to drugs was to identify the drivers for stakeholders.  Science, economic viability and, running through both, measuring improved health outcomes (real-world evidence).

Step two was to bring together a broad range of stakeholders to develop a joined-up approach within the forum for supporting and influencing drug development strategy. To find out more about our Companies Forum we asked CRDN Trustee Dr. Ron Jortner the charity’s Companies Forum lead, to tell us why he feels this initiative is an important part of the Cambridge rare disease eco-system.

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Dr. Ron Jortner, CRDN Trustee and Founder and CEO of Masthead Bioscience

In conversation with Dr Ron jortner, Companies forum lead

What is the main aim of the Companies’ Forum?
“It is only through collaborative effort and stakeholder interaction that treatments and care can be developed for the benefit of those affected by rare diseases. Our mission at CRDN is to create those networks, by bringing together the relevant stakeholders and facilitating these interactions. Companies’ Forum is a special case of that, focused on industry. Its aim is to encourage collaboration between industry leaders and in turn, other stakeholders, with the goal of advancing the development of treatments and care options for rare conditions.”

 

What sort of companies get involved?

“We welcome industry leaders with an interest in making a mark in the rare disease area. Many of our members are companies doing their own R&D; this includes some pharma and biotech companies who specialise in rare disease, as well as other, larger pharma companies for whom rare disease is just one of their focus areas. There are also members involved in drug re-purposing, in home care, and we have recently seen interest from some rare-disease-focussed CROs.  As with all CRDN activities, it is this variety that creates synergies and opportunities for collaboration, which is so essential in the rare disease field. I hope we continue attracting such a variety of companies.”

 

How are COMPANIES FORUM meetings structured?

“Meetings are small, limited to 20 attendees. They typically last half a day, including a networking lunch or dinner. The atmosphere is very relaxed and informal, characterised by open discussion and free exchange of ideas and insights; we follow the Chatham House Rules to encourage this. Each meeting has a high-profile keynote speaker or panel, and attendees get a chance to engage in open discussion with them, workshop-style. As each meeting is small, informal and the atmosphere is intimate, discussions usually go deep.   Attendees have often complimented us on the level of content they get from our meetings.”

 and Tell us more about the next meeting…

“Our next Companies Forum meeting will be held at the Royal Society of Medicine on November 29th. It will focus on collaborative strategies to expedite drug development in rare diseases. The meeting will feature Prof. Chas Bountra, Pro-Vice Chancellor of Innovation at Oxford, and a thought leader on translational medicine, and several patient advocacy group CEOs – Daniel Lewi from CATS Foundation, Tess Harris from PDUK and Allison Watson from Ring20.  We will discuss ideas for expediting and streamlining the development of treatments for rare conditions and how patient groups can help in this – a topic of high interest to everyone involved. We’ll be convening in one of the RSM’s beautiful meeting rooms, and also have a nice lunch during the four-hour meeting.”

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Prof. Chas Bountra, Pro-Vice-Chancellor of Innovation at Oxford University Innovation

Do you see this forum affecting change and if so, at what level?

“Absolutely.  Firstly, as I already said, stakeholder interaction is itself a catalyst for progress in developing treatments. For example, a pharma company may already have a molecule in its portfolio which can benefit patients with some rare condition, but the company may not have ever heard of that rare disease. Such case exactly, where a company suddenly became aware of a condition, led to such realisation and now there’s a Phase 2 clinical trial for a drug that could potentially treat the fibrosis element of Alström Syndrome. We can’t even imagine how many such opportunities exist that have not been realised yet. Secondly, our vision for Companies Forum is that it becomes a taskforce, taking on one or more missions in the rare-disease field with members working on them together. Our members have already discussed a collaborative project on identifying unmet needs in patient homecare. We are brainstorming around these ideas just now.”

 

HOw do you like to describe the forum?

“I would describe it as a progressive group of industry leaders from pharma, biotech and healthcare who meet regularly to exchange ideas and do collaborative work on rare-disease projects with patients firmly in mind.”

 

 If you would like to participate in our next Companies Forum visit our website  for more information, and contact Jo Balfour for membership details.

CRDN host rare stage at Innovation Forum Health Horizons

CRDN host rare stage at Innovation Forum Health Horizons

CRDN brings the RARE voice to major life sciences event

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Cambridge Biotech week,  25th – 28th of June 2019,  was a brand new festival of events launched by the Global Innovation Forum designed to accelerate scientific ideas and support investment and growth for companies in the field of life sciences.

Events took place  across Cambridge and included the Health Horizons Future Healthcare Forum,  the Milner Therapeutics Symposium, Digital Disruptors, Scaling up Success in Biotech hosted by One Nucleus and the Hong Kong Biotech Roadshow.  As part of the two day Health Horizons Forum, Cambridge Rare Disease Network were honoured to host  ‘Rare Disease Innovation and Collaboration’ at Corpus Christi College. 

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From left to right – Prof Tim Cox, Dr Rick Thompson, Patricia Durao-Lewi, Dr Tim Guilliams

Health Horizons is a high calibre, two-day conference focusing on the future of the healthcare industry. Over 100 hard-hitting speakers gathered to address this challenge and share their thoughts with a global audience. The Cambridge Independent shared their “Five things we learned at Health Horizons” summing up that “it’s all about being interdisciplinary”, “research needs to be translated”, “scientific co-creation can follow from serendipity” and “open innovation can accelerate progress”. Needless to say we were delighted to bring the conversation around to the development of treatments and cures for rare diseases and promote the patient voice as essential to these interdisciplinary and collaborative approaches.

As with all of our events, it’s great to have a broad range of stakeholders in attendance. A global audience of patient groups and rare disease advocates, industry, healthcare, research and technology professionals were in attendance to benefit from the thought-provoking presentations of our four speakers who are at the heart of innovative breakthroughs in therapies and technology.  Delegates were able to share in their expertise in co-creating innovative solutions to some of rare disease’s most challenging healthcare issues. Presentations and Q+A were followed by a lively panel discussion moderated by CRDN Trustee Prof. Tim Cox.

The race to introduce new medicines, provide healthcare and stimulate investment often misses the point for patients at the centre of our network… Strong, forward-looking talks from all the speakers showed what can be achieved in true partnership – and how. Put simply: different means for each party needs to be understood if the common goal is to be achieved.

Professor Tim Cox

CRDN Trustee

THE Presentations in a Nut-Shell

Professor Tim Cox – Professor of medicine and trustee of CRDN
What is it to be rare?

From the diagnostic odyssey still faced by patients with rare diseases to the rise of drug buyers clubs, Professor Cox discussed the current climate and how his belief in human connections and collaborative and combined thoughts and effort will have the greatest potential for solving the biggest challenges in rare disease drug development. Tim spoke with a passion and empathy which comes from many years of working closely with affected patients, their families and with patient groups.

 

Dr Tim Gulliams – CEO and Co-Founder of Healx
Drug repurposing for rare diseases: patient group partnerships at the heart of AI

Dr Tim Guilliams spoke passionately about the importance of collaborating with patient groups and how invaluable this has been in their work in drug repurposing. Tim described some of the huge leaps forward that the Cambridge-based start up company has made using AI and big data to find drug-repurposing options for 100 rare diseases by 2025. But his message was clear, that their partnerships with patient groups who can share their lived experience are vital to their success.

 

Patricia Durao-Lewi Co-Founder of CATS Foundation
Patient organisations driving research: collaboration is the key

An inspirational presentation showing the sheer power of a united patient community. From being told they would never meet another Tay-Sachs patient to hosting their sixth European family conference and the creation of the European Tay-Sachs and Sandhoff Charity Consortium Patricia demonstrated how collaboration with other Tay-Sachs patient groups globally and a firm partnership with Prof Tim Cox and his team has allowed them to create a powerful and united narrative for Tay-Sachs and Sandhoff disease. Their purposeful and focussed collaborative approach has resulted in a comprehensive patient registry, successful funding bids and a promising research pipeline with clinical trial dates set for 2019 and 2020.

I would hope that my talk helped delegates understand that rare disease must be tackled from all angles. This means including patient organisations so that they can work together with pharma and researchers as a more powerful team.

Patricia Durao-Lewi

CATS Foundation

Pharmphorum magazine writes about #RAREfest18 and the inspiration behind it

Pharmphorum magazine writes about #RAREfest18 and the inspiration behind it

Cambridge Rare Disease Network - Pharmphorum magazine writes about #RAREfest18 and the inspiration behind it 23

This year, patients, clinicians, scientists and researchers will gather in Cambridge for a unique event: RAREfest18, a festival that aims to bring people together to improve the lives of those living with rare diseases.

September 20, 2018 – article in Pharmaphorum written by Richard Staines  https://pharmaphorum.com/views-analysis-patients/awareness-rare-diseases/

“A family tragedy has prompted Kay Parkinson, founder of the rare disease charity Alstrom Syndrome UK, to create a festival encouraging joined-up thinking to help improve treatments, care and services for people with rare diseases. pharmaphorum spoke to her ahead of RAREfest18 to find out more.

On November 30th and December 1st this year, patients, clinicians, scientists and researchers will gather in Cambridge for a unique event: RAREfest18, a festival that aims to bring people together to improve the lives of those living with rare diseases.

Although rare diseases are classed as something that affects less than one in 2,000 people, it’s not that uncommon to have a rare disease. Around one in 17 people are affected by a rare disease, and about 80% of the 6,000 – 8,000 known rare diseases are genetically derived.

That’s why Kay Parkinson, who lost two children to the ultra-rare disease Alstrom Syndrome, is trying to bring influencers together at RAREfest18 – as interactions between people from a range of different backgrounds could prove to be game-changing in the world of rare disease treatments.

In an interview with pharmaphorum, Parkinson gave an example from personal experience – when she was attending a rare disease conference she met the CEO of the Canadian pharma company Prometic.

This chance conversation resulted Prometic trialling its PBI-4050, also used in idiopathic pulmonary fibrosis and other diseases involving scarring, in Alstrom’s Syndrome.

Encouraging data from a UK-based open-label phase 2 trial of PBI-4050 in Alstrom’s Syndrome were presented at the International Liver Congress, and the European Association for the Study of the Liver, earlier this year.

There is now talk of expanding the trial to other countries, and in order to encourage this kind of lateral thinking, Parkinson launched the first RAREfest in 2015.

Parkinson said: “When I started a charity we were warned off pharma, but they turned into our greatest allies.”

The event has already attracted speakers including the late professor Stephen Hawking who had the rare disease amyotrophic lateral sclerosis, biotech entrepreneur Dr Andy Richards, and Dr Segolene Ayme, emeritus director of research at the French Institute of Health and Medical Research (INSERM).

The goal for Parkinson is to take people out of their “siloes” and thinking creatively, and to raise awareness about rare diseases among the general public.

She said: “Much of the information and summits are very siloed. You see the same people all the time. We wanted to reach the general public.”

“We felt that there was not a nucleus place for the pharma industry to show what it is achieving, and charities to show what they need.”

Improving awareness

While Parkinson is full of praise for the way pharma has supported rare disease patients, she says that there is a pressing need for more awareness amongst doctors

While specialisation in the medical profession can help with more common diseases, Parkinson says clinicians often struggle to look at patients in a holistic manner and fail to spot that a group of different symptoms are caused by a rare disease.

For example, Alstrom Syndrome is characterised by retinal degeneration, nystagmus (wobbly eyes), sensitivity to light, loss of hearing, obesity and insulin resistance.

But other features may include kidney and liver dysfunction, type 2 diabetes, fatty substances in the blood, poor cardiac function, and bladder and bowel problems.

Symptoms may develop at different stages and not everyone is affected by all of them, and even amongst siblings the symptoms can vary.

It would be easy for a clinician to treat any one of these symptoms – but to look at them together and make a correct diagnosis of Alstrom’s Syndrome is much more challenging.

This proved to be an issue while she was trying to get a diagnosis for her children, Matthew and Charlotte, who sadly died in their twenties as a result of the disease.

Parkinson said: “The individual components were diagnosed. They [clinicians] did not pick up heart disease, nobody put it all together. An eye specialist is not going to look at hearing loss. The whole thinking for rare disease needs to change.”

Patients with rare diseases are more likely to try and interact directly with pharma, or an expert in the field to try and find answers, she added.

“For rare diseases, you can’t pin your hopes on doctors, you pin your hopes on somebody developing something that’s not even there,” said Parkinson.

Rewriting the code

With so many rare diseases caused by faults in the genetic code, there is hope that technology like CRISPR offer the potential to treat the underlying cause of the disease, rewriting a patient’s genetic code to produce a cure.

There are already gene therapies on the market that use different techniques to overcome genetic diseases.

Parkinson hopes that these could lead to treatments for diseases such as Alstrom’s Syndrome but is realistic about the speed of progress.

“I hope it (CRISPR) may become an acceptable treatment. Costs will be involved, and a lot will depend on the funds going into it.”

“There will be lots of barriers to overcome. There are going to be great upsets before there are real breakthroughs. They don’t act like other diseases.”

“We have to remain hopeful as there are so few alternatives, I think huge challenges are still there as when you start intervening in humans it may take time to fully realise the implications.”

In the short term, Parkinson is hoping to drum up support, both financially and from increased awareness, for RAREfest.

While some of the events organised are based on arts and culture, Parkinson hopes they will foster an all-important dialogue between patients, doctors, pharma and wider society to help find new treatments or cures and improve care.

With organisations such as EURORDIS, the European umbrella group for a range of rare disease patient groups, and the Genetic Alliance working in a similar role at a national level in the UK, Parkinson is optimistic that progress will be made.

“Rare diseases are moving up the agenda, at least people are talking about them,” Parkinson said.

 

Healx raise funding to repurpose drugs for rare diseases

Healx raise funding to repurpose drugs for rare diseases

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Congratulations to Cambridge start-up, Healx, co-founded by founder and trustee of CRDN, as it raises $10m to help repurpose drugs for rare diseases.

Forbes and the Telegraph today report that the co-founders of Healx, Tim Guilliams – founder and trustee of CRDN, and British inventor of Viagra – Dr David Brown, have raised funding of $10m for their Cambridge start-up that uses artificial intelligence (AI) technology to find medicines to treat some of the world’s rarest diseases.

The Telegraph states “Dr David Brown, the scientist who developed the blockbuster treatment for erectile dysfunction for Pfizer, is the co-founder of Healx, a UK medical tech startup that uses machine learning to find treatments for 7,000 rare conditions that do not currently have an approved method of treatment”.

 

It goes on to explain why Healx believe that the lengthy traditional drug discovery process isn’t economic for rare diseases and how they hope to accelerate the time to drug discovery and reduce costs through their AI technology driven systems which search for drugs that can be repurposed. 

Dr Brown’s work with Viagra, which was developed originally to treat heart patients, proved that drugs intended to help one condition can sometimes be adapted to treat others. To read the full article click here.

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We asked rare disease patients and groups to design a poster for #CRDN2017 summit and we got more than we bargained for…

We asked rare disease patients and groups to design a poster for #CRDN2017 summit and we got more than we bargained for…

We asked rare disease patients and groups to design a poster for #CRDN2017 summit and we got more than we bargained for…

At an EU Conference in 2013 Kay Parkinson displayed a poster of the many conditions affecting Alström patients. Kay is CEO of CRDN, founder of Alström UK and CEO of Alström Europe and a passionate rare disease advocate. The poster was spotted by chance by the CEO of Prometics who noted that in this syndrome, fibrosis of unknown aetiology develops in multiple organs. As a result, after overcoming barriers, they carried out the first UK clinical trial for their PBI-4050 fibrosis treatment. The drug gained EU and US Orphan drug status this year.

We launched our #CRDN2017 Patient Journey Poster callout to give others this opportunity to have maximum exposure to pharmaceutical and biotech companies, trusts and clinicians to share information, explore possibilities and ultimately foster collaborations.

 

Cambridge Rare Disease Network - We asked rare disease patients and groups to design a poster for #CRDN2017 summit and we got more than we bargained for... 26
Individuals, advocacy groups and charities have risen admirably to this challenge to create an outstanding collection of over 50 posters and accompanying patient journeys – as timelines, poems and stories to bring the science alive.

Come and see the exhibition at #CRDN2017 on 23 Oct. Meet the poster creators, learn about rare diseases and look for collaborations. On display and as part of your delegate handbook to take away you’ll see posters about:

Cambridge Rare Disease Network - We asked rare disease patients and groups to design a poster for #CRDN2017 summit and we got more than we bargained for... 27

The full list here:

Tay Sachs and Sandhoff, Mal de Debarquement Syndrome, Ataxia, Charcot Marie Tooth Disease,  Familial cold autoinflammatory syndrome type 2, Xeroderma Pigmentosum – XP, Hyper IgD Syndrome (HIDs), Trisomy 13/18, Vasculitis, Leber Hereditary Optic Neuropathy, Lipodystrophy, pemphigus/pemphigoid, Stiff Person Syndrome, Gitelman Syndrome, Complex Regional Pain Syndrome, Pitt Hopkins, Lymphangiomatosis/Gorham Stout Disease, Genetic Overgrowth PIK3 , HSAN1E, Akinetic Crisis in the autosomal dominant LRRK2 (G2019S) Parkinson’s Disease, Alkaptenuria AKU, Blounts Disease, Sotos Syndrome, Aarskog Syndrome, Kawasaki Disease, Ring Chromosome 20 Syndrome,  Wyburn-Mason syndrome, Acromegaly, Wilson Syndrome, CSF Leaks, Bardet-Biedl Syndrome, Duchenne Muscular Dystrophy, UPS, Hereditary Spastic Paraplegia with a few more to come…

CRDN Inaugural Summit: Tackling the rare disease conundrum with passion, innovation and investment

CRDN Inaugural Summit: Tackling the rare disease conundrum with passion, innovation and investment

Tackling the rare disease conundrum with passion, innovation and investment

Article by Paul Tunnah, Pharmaphorum

Passion

The level of passion for making a difference among all those working in rare diseases is incredible, but it is no doubt led by the patients and their families themselves, each with their own unique story. But it is the ability for these individuals to truly empower themselves and cross the bridge from patient/carer to researcher, communicator and innovator that never ceases to amaze me. 

Take the example of Matt Might whose response to his son’s initially undiagnosed condition was to secure funding for his entire genome sequencing and identify a completely new rare disease cause by a mutation in the NGLY1 gene. Since then, he has built a global community (NGLY1.org), which has so far identified 39 patients around the world, accepted a Visiting Professorship at Harvard Medical School and is now actively leading the race to find a drug that can be used as an effective treatment.

His opening keynote set the tone for the entire day and his experience is reflective of many others who are taking the same proactive steps and not waiting for others to bring the medicine to them. Nick Sireau, one of the CRDN founders and Chairman of the AKU Society and Findacure, is another good example in the work he has done to identify a treatment for his two sons, who have alkaptonuria (AKU), also known as black bone disease.

Innovation comes in many forms, but drug development is at the core of it

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Professor Gregory Winter – Cam Uni and Cambridge Antibody Technology (right), Dr Tim Guilliams – Founder and Chair CRDN (left)

 Innovation

Such passion needs to be combined with innovation to help find solutions to the problems that rare disease patients and their families face. Innovation comes in many forms, but drug development is at the core of it and the Summit featured several notable scientific researchers sharing their experiences.

 Professor Sir Greg Winter, cofounder of Cambridge Antibody Technology and local to Cambridge as Master of Trinity College, explained the science of synthetic antibodies and their critical role in treating diseases where the genetic pathways are well understood, including their developing application in rare diseases. His current focus is on bicyclic small peptides, which could hold the same therapeutic potential as antibodies, while being able to permeate cells more easily owing to their small size and being cheaper to produce. A later speech by Professor Steve Jackson, also locally based with his work at The Gurdon Institute, presented equally dazzling science into the mechanisms of DNA-repair pathways. Although early application has been in cancer treatment (Jackson was a founder of KuDOS Pharmaceuticals, which developed olaparib and was later acquired by AstraZeneca), the potential is much broader and his work touches on rare diseases such as ataxia.

Innovation also comes in how the rare disease community is connected to help elevate disease awareness and aid in bringing such great science to patients. Eurordis, the ‘voice of rare disease patients in Europe’ has been at the forefront of activities here and clearly has ambitions to expand into a more global role. Denis Costello, RareConnect Project Leader, provided a sneak preview of what the new RareConnect.org information platform will look like, which appears to be very much like a Google for rare diseases, including translation into multiple languages. With launch anticipated in the next couple of months, watch this space!

Passion and innovation is impossible to translate into front-line treatment without sufficient funding

Investment

Innovation also comes in how the rare disease community is connected to help elevate disease awareness and aid in bringing such great science to patients. Eurordis, the ‘voice of rare disease patients in Europe’ has been at the forefront of activities here and clearly has ambitions to expand into a more global role. Denis Costello, RareConnect Project Leader, provided a sneak preview of what the new RareConnect.org information platform will look like, which appears to be very much like a Google for rare diseases, including translation into multiple languages. With launch anticipated in the next couple of months, watch this space!

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Herman Hauser – speaker 

 One topic for the day was the idea of ‘repurposing’ – taking existing drugs for more common conditions and securing approval for them to be used as a rare disease therapeutic. This has been a core focus for the work of the aforementioned champions like Matt Might, but more systematic initiatives are now underway with platforms like  www.cureaccelerator.org. Dr Bruce Bloom, President of Cures Within Reach, the organisation behind Cure Accelerator, also outlined how they are trying to work with the generics industry as a whole to support drug repurposing.

While charities such as MRC Technology are working tirelessly to help fund the transition from research to treatment and there is a sense that more funding is flowing in the direction of this area (something also covered by Professor Steve Jackson), there is a clear need to explore novel funding mechanisms. This was covered during an interesting session on ‘alternative funding strategies’, which included crowdfunding and the growing area of impact investing, where investment is made not just on the basis of expected return financially, but also what ethical impact the work will have. 

Could we see ‘social investment bonds’ help drive future rare disease research?

Paul Tunnah

Ultimately, it is clear that the involvement of commercial companies in rare diseases is critical to accelerate the race to find cures. Financial incentives are part of the solution here, but also needed is the realisation that a rare disease indication can provide a good ‘foothold’ for approval as a precursor to approval in a broader range of indications. In addition, the experience gained from working in the microcosm of rare diseases could also have much broader benefits, as personalised medicine holds the potential to ultimately segment common conditions into clusters of rare diseases.

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Professor Stephen Hawking provided a video keynote 

A closing video keynote from none other than Professor Stephen Hawking reminded us all of the importance of continued activity in tackling the challenges of rare diseases. Hawking, who was diagnosed at a young age with amyotrophic lateral sclerosis (ALS), a motor neurone disease, has defied the odds in staying alive, but how many brilliant minds have been lost too early under similar circumstances? I would challenge any health economist to calculate the benefits of investing in rare disease treatment in that context