The Manchester Rare Disease Showcase
Over 100 people attended the event which was held in the stunning Bridgewater Hall, including Lord Mayor of Manchester Abid Chohan, renowned academics, medical students, and rare disease advocates and patient groups. The event provided the perfect tableau upon which to showcase the extensive rare disease work going on in the North West’s rare disease hub.
Our regional showcase series, which has previously been held in Cardiff, Glasgow and Newcastle, ensures that people from all across the UK get to stand in the rare spotlight. It provides an opportunity for a diverse range of people in a locale to form important connections during networking sessions. Our Manchester event received fantastic feedback and we are so glad that it proved useful to our attendees. By hosting these events, we will build a stronger, more resilient rare disease community one step at a time.
Programme and summaries
Stephanie Yau, Rare Disease Project Manager, Manchester University NHS Foundation Trust
Stephanie Yau bravely took to the stage as the first speaker of the day. Her first question to the audience regarding rare research was ‘Why Manchester?’
As some of you may already know, Manchester has access to a devolved healthcare budget, which means that the decisions regarding healthcare funding, covering 2.8 million people across Greater Manchester’s 10 boroughs, are made locally. This affords the opportunity for rare diseases to be allocated funding they may not otherwise have been granted. Stephanie also noted that Manchester is one of the most populated and diverse cities in the world and is very attractive for research. In 2018 alone, 476 research trials were conducted in Manchester.
Stephanie has released a blog series where she promotes rare diseases at MFT, whose titles are ‘Why we need to focus on rare diseases- individually rare, collectively common’ and ‘The Rare Reality of Rare Diseases’.
Professor Adrian Woolf, Chair in Paediatric Science, Manchester University
Adrian asked the audience ‘how many people in the UK would be dead if they had not received kidney dialysis?’ The shocking answer was 65,000, which no one in the audience guessed. Worldwide, there are 2 million people who are being kept alive by dialysis, and countless millions more who have died as a result of insufficient treatment. The life expectancy on regular dialysis is lower than that of people with many cancers.
70% of people receiving dialysis have a rare disease, with the rest living with sugar diabetes, so it is a topic very much within the remit of rare diseases.
Adrian then moved on to discussing stem cell technology, which is where his research lies. In recent years, scientists have been able to grow stem cells from a person’s own blood rather than taking them from human embryos left over from IVF treatment which many people found ethically problematic. Adrian’s team was able to make early kidney cells in a dish from human stem cells and transplanted them under the skin on the back of a mouse. Months later, a 1cm-across kidney developed. However, scientists have not been able to form a ureter or blood vessels. Adrian hopes that within 5 to 10 years, these problems with so-called ‘mini kidneys’ can be ironed out.
Naomi Litchfield, Patient Advocacy Manager & Graham Sidorowicz, VP Business Development, Bionical Emas
After our morning tea break, Naomi Litchfield, Patient Advocacy Manager and Graham Sidorowicz, Vice President of Business Development at Bionical Emas, began their presentation on early access programs. Early access programs – also known as compassionate use, expanded access, and managed access – can allow rare disease patients to access treatment for their condition before it is officially approved.
In 2018, President Trump signed the ‘Right to Try’ law which raised the profile of early access programs considerably, particularly among the general public and patient organisations.
The UK is leading the way through the collection of real-world data for its early access programs, known as ‘EAMS’. These programs are the first opportunity to find out how a patient will respond to investigatory medicine and so the collection of this data can be tremendously useful. To date, there are 21 implemented EAMS schemes in the UK.
There are two key benefits of early access: ethically responding to requests for access and generating real world data/evidence. Data collected through these programs can be utilised for scientific publications and inform the community of respective disease areas, as well as informing prospective research. Early insights can shape future trials.
Naomi talked about the power of patient advocacy and social media using a case study of Josh Hardy. Josh was able to access a life-saving medication which had not yet passed stage 3 of clinical trials and went from intensive care to home in just one week.
Naomi and Graham discussed the paper ‘What compassionate use means for gene therapies’ which can be viewed here.
Dr Bruce Bloom, Chief Collaboration Officer & Dr Karine Proulx, Drug Discovery Alliance Member, Healx
After a delicious lunch, involving some particularly outstanding brûléed goat’s cheese, Bruce Bloom and Karine Proulx from Healx took to the stage to discuss the power of patients, partnerships and AI in accelerating rare treatment development.
Bruce explained that Healx is an ‘artificial intelligence-powered company’, meaning that they ‘use a computer to do the work of a million really smart people with perfect memories’. They are a human company which uses AI to find repurposed drug for rare diseases to make them ‘smarter, faster, quicker and cheaper’ which is ideal for rare diseases. Knowing so much about a drug already eliminates a huge chunk of time from the beginning of the traditional drug development process.
Healx were able to combine two drugs which had nothing to do with the rare condition Pitt Hopkins Syndrome to rescue 7 of 8 behaviours in their mouse models.
Karine said that the most successful projects have been when Healx and patient groups ‘taught each other’. This synergy led them to launch the first pilot of their Rare Treatment Accelerator right there at the Showcase which has the potential to really lead the way in the development of new treatments for rare diseases. The Rare Treatment Accelerator allows patient groups to apply to get involved with industry by giving natural history data, carer’s reported outcomes, and omics data which are then input into Healx’s algorithm. Rare disease advocates would then be involved in designing clinical trials by identifying which end points are important to them.
Using the example of their project with Fragile X, Healx was able to go from translation to clinical trials in a timeline of just 2 years, cutting off years from traditional drug development timelines.
Asya Choudry, Community Engagement Manager, Breaking Down Barriers
The topic of lack of ethnic diversity in rare disease engagement is very rarely discussed in the community, yet it is an important topic as many people in the UK are not receiving the care that they should. Asya Choudry from Breaking Down Barriers discussed the problems faced by charities in attempting to engage with BME communities, including language and cultural barriers.
Consanguinity (marrying within the family) is a taboo topic in the British media and so people are reluctant to come forward to seek support with their rare disease. Consanguinity increases the chance of children being born with a rare disease as recessive genes are more likely to be inherited, including Asya’s own brother who passed away in childhood. Her mother never sought support due to the cultural taboo surrounding this subject. Studies have shown that South Asian populations have an increased risk of Ehlos Danlos Syndrome.
A study led by the Breaking Down Barriers project found that people felt ‘judged or stigmatised’ and that accessing treatment was a ‘postcode lottery’. Poor quality interpreters also proved an obstacle to some people, and many missed appointments due to the alienation associated with this. Breaking Down Barriers funded 15 charities to improve accessibility with target communities. Examples of these charities’ project include Jnetics, which offered free genetic screenings in schools and universities through linking with synagogues, and WellChild Wolfram Syndrome, who translated their information and put the two languages side-by-side. The simple English in this document also helped English speakers as it provided more palatable, less-scientific information.
Sally Hatton, Young People's Project Officer, Metabolic Support UK
Sally concluded the day by talking about her personal experiences growing up with the rare inherited metabolic bone disorder XLH which is related to a lack of phosphate in the blood. The condition affects all of the bones and muscles in the body and severity can vary greatly. The main hallmarks are generalised bone pain and weakness, bow legs and a difference in gait, short stature, and stress fractures. Currently, the main treatment is phosphate supplements as well as surgical intervention.
Sally led the audience through her diagnostic journey, from her parents noticing a problem with her gait which was initially dismissed by doctors to the present day where she supports other people with metabolic disorders in her role as Young People’s Project Officer at Metabolic Support UK. It was only through a chance meeting while out shopping that her mother bumped into an old acquaintance with severe bowleggedness who gave her the details of an expert paediatrician who had successfully treated her children with XLH.
Whilst growing up, Sally dealt with the occasional negative comment about her condition from other children at school and in her teens dealt with a mental health crisis as a result of becoming more self aware of how she was different from others in her class. She had an operation to reset her legs and eventually began to ‘open up more about [her] condition’. A letter came through her door from a charity called Climb (now Metabolic Support UK) inviting her to a patient day. She enjoyed the day so much that she has now ended up working for the charity.
Sally talked about the problems people with ‘invisible’ conditions face, such as sitting in priority seats on public transport, as well as the relationship between rare diseases and psychological wellbeing.
Lightning talk session
Sondra Butterworth, PhD Psychosocial Research Student, University of Chester
Sondra drew attention to her research project focussing on the intersectionality of social support and quality of life for those living with rare diseases.
Michael Cain, Patient and Trustee, HSP Support Group
Michael discussed the realities of living with a rare disease which many doctors believe requires end-of-life care. He has proactively sought his own treatments for his condition after being turned away by doctors.
Rachel Jones, Medical Director, Swii.ch Health
Rachel discussed the video series she is putting together where people with rare diseases can simply send in ‘a day in the life’ videos from their smartphone.
Jackie Imrie, Trustee, Niemann Pick UK
Jackie talked about the incredible work her charity, Niemann Pick UK, has done in leading the way for patient-led registries.
Michelle Ainsworth, Head of Camper Recruitment & Logistics, Over The Wall Children's Charity
Liz Blows, Founder, Stiff Person Syndrome UK
Liz discussed the history of Stiff Person Syndrome as well as the symptoms of the condition.
Maja Jeffries, Cure DRPLA Patient Group
With thanks to our sponsors
We would like to thank our sponsors for providing financial support for this event. This event has been solely organised by Findacure and our sponsors have not determined the content or organisation. All funds received by pharmaceutical companies have been used in accordance with the ABPI code.