Findacure reflections on CamRARE2017 summit. Re-imagining the Patient Journey.

Findacure reflections on CamRARE2017 summit. Re-imagining the Patient Journey.

On 23rd October the rare disease community gathered in Cambridge for the Cambridge Rare Disease Network’s third annual summit. This day-long conference is always a great opportunity for Findacure to meet up with the rare disease community on our own doorstep, and we were thrilled to be invited to speak on the day. Rather than give a blow by blow account of the day, Findacure’s CEO, Rick decided that his blog for the week would highlight some of its major themes.

All conferences are different. They have a different focus, target a different audience, and deliver a very different atmosphere. In a month filled with conferences, including Rick speaking at Bio2Business, an orphan drugs and rare diseases conference in London, and Katie attending EyeforPharma, it is the conferences focusing on rare diseases that have been particularly special. In addition to our own Newcastle Rare Disease Showcase event (more about that soon), the Findacure team had the pleasure of attending the CamRARE summit.  After a great day, I thought that I’d share my thoughts on what the CamRARE summit stands for.

 

C is for collaboration

Collaboration really was at the heart of the CamRARE summit. The team had worked hard to select a programme of talks that showcased projects in the rare diseases that involved many different disciplines. The specialist orphan drug pharmaceutical company Sobi spoke about their work with patient groups, both to help develop new treatments, and to improve the way that drugs are delivered to ease their day-to-day lives.

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The Mendelian team highlighted the work there online platform is doing to provide an effective digital diagnostic tool which is accessible and helpful to primary care professionals. Importantly this tool is responsive and relies on the input of clinicians around the world to improve its results.

Finally Kay Parkinson, CEO of Cambridge Rare Disease Network, gave an excellent talk about her personal experience as a mother of two children with Alström syndrome. When exhibiting a poster about the condition at an international conference, she made contact with a pharmaceutical company who had a product that had the potential to act as a treatment for this condition. From this serendipitous meeting, a research project and clinical trial for this ultra-rare condition has snowballed.

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R  is for “Read all about it”

A great innovation of the conference, and real highlight for me, was the patient journey poster competition (a project born from Kay’s own poster experience). Prior to the conference, 33 different patient groups took the time to produce posters to summarise their rare condition and their own patient journey. These posters were shared with all delegates in printed form so that everyone, whether clinician, researcher, life sciences worker, or rare disease patient, could read all about the impact of a multitude of rare diseases.

Even more excitingly five poster authors were selected to give a five-minute lightning talk during the conference, telling the audience a little about their condition and their three wishes for the future. The CamRARE team asked Findacure to chair this session, and Mary Rose and I brought our dreaded bell along to help ensure that all of the speakers kept to time. It was a real pleasure to be involved in this session, and the talks were of an exceptional quality.

 

D is for diversity

The whole day was hugely diverse, with a number of different sessions helping to bring different interest groups into the rare disease fold. The team

from Students4RareDiseases were involved in a session with medics, students, and genetic counsellors focussing on the role early career healthcare professionals can play in rare diseases. There was also a session focussing on the role of technology in rare diseases, with the team from No Isolation showcasing a robot avatar, which is designed to help children who are unable to attend their school due to ill health remain engaged in the classroom. These two breakout sessions combined with the CamRARE Companies Forum and patient journeys posters, really ensured that everyone had a place at the event.

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Cambridge Rare Disease Network - Findacure reflections on CamRARE2017 summit. Re-imagining the Patient Journey. 4

N is for new hope

The whole event was a great showcase for rare diseases, and we are grateful to the CamRARE team for giving Findacure such an exciting role in the day. Between the talks on drug repurposing, gene editing, and the impatient patient revolution, I left the day with the sense that there is lots to look forward to for rare disease patients in the near future.

Suzanne Morris – the Vasculitis UK Cluedo Patient Journey poster creator

Suzanne Morris – the Vasculitis UK Cluedo Patient Journey poster creator

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This Blog article by Suzanne Morris, one of the creators of the Vasculitis UK patient journey poster, tells about her motivation for getting involved.

“Earlier this year, Cambridge Rare Disease Network put a call out for Patient Journey posters to be part of the 3rd Cambridge Rare Disease Summit (#CamRARE2017) in October. They said, “Journey maps go beyond the static medical view of a condition by illustrating the patient experience, promoting emotional responses and empathy and providing a visually compelling story of the patients’ journey.”

Su’s full size Vasculitis UK poster, winner of the competition, can be seen here

And the overall winner of our #CamRARE2017 Patient Journey poster competition is…

And the overall winner of our #CamRARE2017 Patient Journey poster competition is…

Suzanne Morris of Cambridge and Lynn Laidlaw have collaborated, using Suzanne’s graphic design skills and wonderful artistic vision, to create a patient journey poster submission for the Cambridge Rare Disease Summit 2017 for the Vasculitis UK charity, Suzanne and Lynn both have has Behçet’s Disease and volunteer for the charity.

We are delighted to announce that the Vasculitis UK poster has been nominated as the best overall design for it is incredible creativity and impact.

Judges said “The novel way in which the journey was portrayed using the characters from Cluedo really cleverly draws you in and is extremely memorable. Congratulations to all of you for your contribution to this – you should be very proud!!”

To learn more about how the poster was conceived and it’s message read on here and view the full poster here.

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We asked rare disease patients and groups to design a poster for #CamRARE2017 summit and we got more than we bargained for…

We asked rare disease patients and groups to design a poster for #CamRARE2017 summit and we got more than we bargained for…

We asked rare disease patients and groups to design a poster for #CamRARE2017 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 CamRARE, 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 #CamRARE2017 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.

 

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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 #CamRARE2017 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 #CamRARE2017 summit and we got more than we bargained for... 8

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…

Cambridge Rare Disease Annual Summit – Oct 23 2017

Cambridge Rare Disease Annual Summit – Oct 23 2017

Following the success of our 2 previous summits the Cambridge Rare Disease Network is pleased to announce our 3rd annual International Rare Disease Summit.

Venue: Robinson College, Cambridge will be hosting our event on 23rd October 2017

Costing: tiered pricing with early bird tickets and discount tickets for patients and patient groups, students and start-ups.

 


 

This day long event seeks to create a forum that brings together patient groups, healthcare, academics, researchers, biotech companies, and the pharmaceutical industry in a spirit of collaboration, innovation and passion to re-imagine and re-invent the Rare Disease patient journey.

Theme: “Re-imagining the Patient Journey”

We will provide a morning of exploration of inspirational Rare Disease patient journeys where patients and patient carers have been partners in healthcare and treatment development. Take a walk with us through case-studies from early symptoms, dead-ends and steps forward to diagnosis, patient group formation, campaigning and research to pharma collaboration and drug development.
The afternoon will showcase pioneering work being undertaken in Cambridge and around the world to re-imagine and re-write the endings of Rare Disease Patient journeys from drug re -purposing and pharma ‘adoption’ of rare diseases to empowering patient revolution.

 


 

Patient groups a chance to showcase posters in a Patient Journey gallery and all delegates will enjoy wide networking opportunities with exhibition stand holders from industry and patient organisations.
Followed by a drinks and canape reception in the pleasant surroundings of the Crausaz Wordsworth building on site.

 


 

Confirmed Speakers with more pending:

 

  • Dr Ségolène Aymé – Founder of Orphanet
  • Dr Kate Bushby – Professor of Neuromuscular Genetics, Newcastle University John Walton Centre for Muscular Dystrophy Research
  • Dr Ana Mingorance – Dracaena Consulting, Chasing cures for neurological and rare diseases
  • Dr Rick Thompson – Head of Research, Finadacure
  • Neil Dugdale – General Manager, UK and RoI, Sobi
  • Kay Parkinson – CEO, CamRARE and Alstrom Europe
  • Dr Owen Vaughan – Senior Director, Regulatory Affairs, ProMetic Pharma SMT Ltd
  • Dr Sanjay Patel – Senior Director, ProMetic Pharma SMT Ltd
  • Daniel Lewi – CEO, Cure and Action for Tay-Sachs Foundation

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

CamRARE 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 CamRARE 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 CamRARE (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