Newcastle is known for many things – brown ale; the Geordie accent and love of conversation; Ant and Dec; some of the world’s most passionate football supporters; and being voted the best city in the UK in 2014. Importantly, though surprisingly to some, Newcastle is also a hub for excellent rare disease research. On the 31st of October 2017 the Findacure team opened the doors of the Centre for Life, welcoming the rare disease world to The Newcastle Rare Disease Showcase with the aim of highlighting the great research being done in the North-East of England.
The day followed the format of our successful Birmingham event in 2016, with a series of talks in the morning and early afternoon, before a lightning-talk filled two-hour networking session rounded off the day. As usual, Findacure CEO, Dr Rick Thompson, opened the event sharing the reasons we should all care about rare. He highlighted the experiences shared by rare disease patients regardless of the symptoms of their condition: multiple misdiagnoses, isolation, difficulty maintaining employment, and little hope of treatment. After introducing our patient empowerment programmes to the Newcastle audience, and touching on our social impact bond project, Prof. Mike Briggs took the stage.
You can hear Rick’s talk here.
Mike is a Professor of skeletal genetics at Newcastle University, and was instrumental in bringing the showcase to Newcastle having contacted Findacure with the idea in 2016. Mike is a big advocate of drug repurposing as a way to deliver new drugs to rare disease patients, and shared the story of his work to develop a drug for the rare bone disease metaphyseal chondrodysplasia type Schmid (MCDS). This condition leads to reduced bone growth, particularly in the limbs, which can result in bowing of the legs and joint pain. Mike’s work on skeletal genetics has led him to focus on many of the common underlying mechanisms in skeletal diseases. One such mechanism, which is also seen in many other rare conditions, is cell stress. Through understanding how cell stress occurs Mike and his collaborators were able to identify a 50 year old drug that is able to lower stress and restore normal bone growth in MCDS model mice. This work is now in the process of being moved to a first in-human clinical trial.
You can hear Mike’s talk here.
Our third talk touched on another of our major themes for the day – access to medicines. Nigel Nicholls from Biomarin gave a talk on a new type of model that the NHS are using to pay for drugs in England: the managed access agreement. Here patients are prescribed a drug on the NHS for an appropriate illness, but have to undergo careful monitoring. Their progress is assessed regularly to see the effects of the drug on their health and quality of life. If certain goals are reached, treatment is continued, but if not, the drug is withdrawn. The idea is that only those that benefit from an expensive drug should receive access. Biomarin were involved in the negotiation of the first such agreement, and Nigel shared the huge positive impact made by the patient group in helping to secure this landmark deal, and ultimately treatment for their patient community.
You can hear Nigel’s talk here.
Our final talk before a well-earned coffee break came from Charlotte Proud. Charlotte lives with Osteogenesis Imperfecta – or brittle bone disease – and has had to live with fractures throughout her life. She shared her story of living with this rare condition, and impressed the whole audience with her outlook on life: “When they say you can’t, they’re showing their limits, not yours.” True to form Charlotte is passionate about sport, playing football, netball and hockey throughout school. She is an excellent runner, having completed 10 half marathons and 2 full marathons! A huge achievement for anyone regardless of bone strength! Charlotte was a fantastic advocate for brittle bone disease and all rare conditions, and it was a pleasure to have her at the event.
You can hear Charlotte’s talk here, and read more about her story in the press here.
After a short break we returned to the theme of drug repurposing, as Dr Neil Rajan from Newcastle University shared his journey in repurposing a drug for a rare skin tumour. The condition leads to benign tumours across specific regions of the body, in particular the scalp, and growth can be so extensive that total scalp removal can be the best option for patients. Due to the benign status of the tumour the disease is often considered minor and treatment development a low priority. Neil’s work with patient groups and individuals affected quickly convinced him otherwise. Through careful research he has identified a potential repurposed treatment for the condition, and this is currently undergoing clinical trials.
You can read more about Neil and his work on page 40 of Rare Revolution Magazine’s Rare Skin Edition here.
Next we returned to our access to medicines theme, with Richard Leach from Mawdsley-Brooks giving us an overview of named patient supply programmes. These programmes help patients to access drugs that are not currently licenced in their country – Richard shared an example of one rare disease drug that was licenced in Europe 20 years after it was first approved in the USA. Despite the lack of a licence, such drugs are still in demand from patients, and named patient programmes can help to provide vital medicine where it is needed.
After a lunch break with some top quality sweet potato fries, we returned to the conference hall to hear a clinical research perspective. Dr Hannah Steele is a clinical research associate working at Newcastle’s neuro-genetic clinic. This centre covers a wide range of neurological rare conditions, and is a registered ataxia clinic. Hannah highlighted how having a specialist neuro-genetic centre in the region can provide both high quality care to patients, and a fantastic hub for research into these poorly understood rare conditions. The Newcastle centre is involved in research projects and collaborations that track the natural history of disease, help to develop accurate diagnostic tests, and provide crucial new biomarkers that can allow the progress of diseases to be monitored much more carefully. This latter role is crucial as it will allow clinical trials to demonstrate a clinical impact of treatments over a shorter time frame, potentially allowing them to reach more patients more quickly.
The final talk of our conference programme was delivered by Victoria Hedley, who works at the John Walton Muscular Dystrophy Research centre in Newcastle. This centre, along with others in Newcastle, is a hub for a number of Europe-wide rare disease projects, which cover rare disease research with a particular focus on the neuromuscular, rare disease policy, and the new European Reference Networks. Victoria highlighted the truly collaborative approach we continually see in the rare disease field, and the impressive work coming out of Newcastle in this area.
You can listen to Victoria’s talk here.
With the close of our main speaker programme we moved to our networking and lightning talk session. Eight brave souls took the five minute challenge to share their rare disease stories with our audience. I don’t have the time to cover them all in detail here, suffice to say it was a pleasure to showcase the excellent work of patient groups, advocates, and researchers. You can see the full list of lightning talks below, with links to their recordings.
The whole day was a fantastic experience, and the programme really showcased the excellent work being done in the North-East of England. Newcastle is a real hub for research, fantastically connected with European collaborators, and growing its own network of rare disease patients. It was great to take the Findacure showcase to the city, and we look forward to visiting again in the future.
Lightning talk programme
Kerry Leeson-Beevers, Alström Syndrome UK – Breaking Down Barriers – developing supportive and inclusive services
Dr Ritchie Head, Ceratium Limited – Venture philanthropy funding for orphan drug development: The VISION-DMD case study
Brian Cullen – What is HHT?
Dr Tom Van Agtmael, University of Glasgow – Chemical chaperones as a therapeutic approach for collagen IV pathologies
Roberto Fernandez Torron, Newcastle University – The clinical outcome study for dysferlinopathy
Beryl Park, Ben’s Friends – Spinocerebellar ataxia: an experience of diagnosis in the North East
Rebecca Leary, Newcastle University – ERN-EURO-NMD: Diagnosis and care for patients with rare neuromuscular diseases
Nicola Miller, Rare Revolution – Rallying a rare disease community