Drug Repurposing for Rare Diseases Conference 2019

On Wednesday 27th February 2019 we held the Drug Repurposing for Rare Diseases Conference at the Royal College of Nursing in London. As our sixth annual conference, we were keen to make this year’s event the best yet, and we were delighted that over 110 people from across the rare disease space came to join us to hear about the thriving world of drug repurposing.  As always, we were also celebrating international Rare Disease Day. This year’s Rare Disease Day theme was ‘Bridging Health and Social Care’ – focusing on closing gaps and improving coordination between rare stakeholders. We feel our conference showcased this theme wonderfully – with exceptional examples of collaboration between patient groups, pharmaceutical companies, academia, and medical professionals. 

Programme

Rick Thompson - CEO, Findacure

Our CEO, Rick Thompson, gave the first talk of the conference. In his presentation, Rick introduced the concept of drug repurposing as well as the benefits it holds for rare disease drug development, including: faster and cheaper development, known safety profiles, history and evidence of human use, and reduced need for early stage clinical trials. He also touched on the purpose behind our Drug Repurposing conference, particularly in regards to the opportunities it creates – opportunities to meet new people, to share your work, and to build a cohesive rare disease community. Finally, Rick discussed MCDS Therapy – an academic-led repurposing trial for an ultra-rare bone condition, in which Findacure is a partner. As part of this project, MCDS Therapy aims to develop a low cost treatment for a rare skeletal condition, alleviating pain and bone malformations that patients live with on a daily basis. Within this, Findacure’s role is responsible for communications and dissemination of information, such as building and managing the website, social media and newsletters.

Becky Jenner - CEO, Rett UK & Rachael Bloom Stevenson - Executive Director, Reverse Rett

Our next talk came from Becky Jenner and Rachael Bloom Stevenson who discussed the first UK clinical trial for Rett syndrome, launched at the King’s College Hospital, London, in 2017. Rett syndrome is a rare neurological disorder, mainly affecting females, which can cause profound physical and mental disabilities. Becky, CEO of Rett UK, and Rachael, Executive Director of Reverse Rett, both have adult daughters with Rett syndrome who have participated in this trial. In their presentation, Rachael discussed the work of Reverse Rett in helping facilitate implementation of the trial, including pre-screening support, reviewing trial facilities, developing patient information sheets, and providing general logistical support. The trial is now at capacity, with an expected completion of October 2019. Becky then shared the reality of taking part in the trial; the extensive paperwork required, compromises to home and work commitments, increased anxiety both for patient and parent, and difficulties with repeated blood draws. Despite difficulties, Becky argued that taking part in the trial has been completely worth it in order to have access to the drug. Finally, Becky and Rachael emphasized the importance of similar patient organisations working together, rather than in competition so that the patient community does not feel divided or isolated from any one group.

 

 

 

Prof. Lakshminarayan Ranganath - Clinical Director, National Alkaptonuria Centre

After a quick tea break, we were joined by Prof. Ranganath – Clinical Director of the National Alkaptonuria Centre (NAC), and co-founder of the AKU Society. Alkaptonuria (AKU) is an ultra-rare genetic condition, also known as ‘black bone disease’. AKU prevents patients from breaking down a chemical known as homogentisic acid (HGA) and as a result, HGA builds up around the body causing significant damage to bones, cartilage and tissue. For the last few years, a repurposed drug – nitisinone – has been given to patients off label at the NAC in Liverpool. In parallel, the drug is also being tested in an EU funded clinical programme – DevelopAKUre – of which Prof. Ranganath is the Principal Investigator. In this talk, Prof. Ranganath discussed the trial, the development of the NAC and the data they have collected from patients showing the beneficial effects of using nitisinone to treat AKU.

Download Prof. Ranganath’s slides here. 

Xavier Paoli - Chief Commercial Officer, Pharnext & Rodolphe Hajj - Chief Pharmacology Officer, Pharnext

Our final talk of the morning came from Xavier Paoli and Rodolphe Hajj, Chief Commercial Officer and Chief Pharmacology Officer respectively at Pharnext, our conference’s Platinum Sponsor. Pharnext is an advanced clinical stage biopharmaceutical company which develops therapeutics for rare and common neurodegenerative diseases. In their presentation, Xavier and Rodolphe explained Pharnext’s new technology – Pleotherapy – which uses genomic data and artificial intelligence to identify and develop interactive combinations of repurposed drugs, called Pleodrugs. Pharnext have already used this model in a number of conditions, include Alzheimer’s and Charcot-Marie-Tooth disease type 1A (CMT1A) – a rare neurological disorder. They discussed how this has been implemented in CMT1A, outlining the discovery of the drug (PXT3003), design, and the drug’s effects in action. Finally, they described how the Pleotherapy model can be applied to other rare conditions, in the hopes that treatments can be delivered quickly to those with unmet medical needs.

Logan Williams - Medical Student, University of Auckland

Following lunch, we kicked off the afternoon with a talk from our Student Voice essay competition winner, Logan Williams. Logan is a medical student at the University of Auckland, and in his presentation he discussed how he became involved in our competition, and the experiences behind his winning essay ‘Repurposing a rare opportunity: a brief insight into how implicit bias towards biomedicine impacts the care received by patients with a rare illness’. Logan explained how upon meeting a young boy with worster drought syndrome, he became caught up with focusing on his diagnosis, rather than himself as a patient. It wasn’t until he spoke with the boy’s mother that he realised he had a strong bias towards focusing on the biomedical aspects of patient care, rather than the human. The mother felt robbed of being able to celebrate her son’s milestones – for example, whilst many parents rejoice when their child starts walking, for this mother it meant challenges in dealing with her son’s newfound mobility and ensuring he could not come into contact with anything which cause him harm. In his talk, Logan stressed the need for future doctors to look beyond the medicine, ensure patients and families are given a voice and reduce the marginalisation of those facing rare diseases.

 

Pan Pantziarka - Program Director, Anticancer Fund

Through his work at the Aniticancer Fund, Pan has been heavily involved in identifying generic drug repurposing opportunities for rare cancers. As part of this work he was a key member of a round table on drug repurposing that was covened by the Association of Medical Research Charities and the Department of Health in England. The aim of this group was to identify new ways to ensure that generic drugs with evidence based off label uses can be brought into standard use within the NHS. Pan discussed this work, in particular highlighting three major outcomes from the group. Firstly, there is now a route for generic drugs that are used off-label with a strong evidence base to be listed in the British National Formulary for that use. This simple change should increase the visibility of this type of prescription, and improve the uniformity of access for UK patients. Secondly, special committees are being set up to identify such generic off-label use, and projects of promise. Finally, in collaboration with the British Generics Manufacturers Association, a proposal is being put together to allow companies that do development on generic drugs to secure tax credits to help bring them to market for new conditions. This simple incentive could begin to create a more viable business model for such companies to engage in generic drug repurposing.

Catherine Lawrence - Senior Medical Advisor UK, Santhera & Janet Bloor - Parent & Duchenne Advocate

Before our final break, Janet Bloor and Catherine Lawrence took to the stage to discuss how drug repurposing is being used to treat Duchenne muscular dystrophy (DMD). DMD is a rare genetic disease mainly affecting boys, characterised by progressive muscle degeneration and weakness. Around the world, there are currently over 50 clinical trials focused on Duchenne. However, the majority of these trials focus on the younger generation of DMD patients and those who are still ambulatory, leaving an entire generation of older non-mobile patients largely neglected. Recently, however, Santhera – a pharmaceutical company – has started to address the unmet needs of this group and began trialling Ibedone as a respiratory drug for Duchenne. In their talk, Catherine outlined the science behind this repurposing opportunity, which looks at mitochondrial function and cell death in Duchenne, rather than targeting the faulty dystrophin protein.

Janet also shared her story, as a parent of an adult son who has been on the Ibedone trial for the past 18 months. Janet’s son was diagnosed age 9, at which time they were told there was “no hope, no cure, dead by 20”. Janet refused to accept this and has dedicated her life to battling for her son, now 25, and other Duchenne families. As an older Duchenne patient, Janet’s son was one of those whose needs were previously ignored and Janet has advocated hard to bring him, and others, to the attention of pharmaceutical companies.

Suzanne Morris - Patient Representative, PNH

Our final talk came from Suzanne Morris, who lives with Paroxysmal nocturnal haemoglobinuria (PNH). PHN is a life-threatening rare blood condition where blood cells are prone to be attacked by the body’s immune system. Suzanne was initially diagnosed with aplastic anaemia at 10 years old, at which point her parents were told she only have three months left to live. In the following two years she was diagnosed with PNH and spent much of her time either in hospital receiving blood transfusions, or in bed. In a time before internet, her parents were left without any help or support and with nowhere to go.

Suzanne outlived her initial life expectancy but the condition still had a significant impact on her life. She was determined to live a “normal” life, but never told anyone about her condition, partially due to the stigma of having a blood disorder during the AIDs crisis, and prejudice people received. Many years later, during an appointment at St George’s Hospital, her doctor asked her if she’d like to participate in a clinical trial, and she accepted immediately. Initially, her body completely rejected the new drug – Soliris – and she was admitted to hospital. Eventually, however, her body accustomed to it and she began to make improvements. For every single patient on the trial, it was proven that the drug had a significant positive impact on their life, which was key to it eventually being approved by the FDA and NICE. Soliris is known to be one of the most expensive drugs in the world, and Suzanne has now been on this treatment for over 15 years. Finally, Suzanne highlighted the difficulties of living with an ‘invisible condition’ and the need to focus on the mental and social effects of rare diseases.

 

 

 

Lightning talk programme

Joanna Segieth - Director, Biosynetix

Joanna was the first to take the five minute challenge. Her talk focused on the ways that new clinical trial designs in cancer are allowing a single drug to be trialled for multiple different conditions within the same trial. She suggested that this type of structure could be hugely beneficial for families of related rare genetic conditions.

Download Joanna’s slides here

Heather Band - Scientific Officer, BDFA

Patient groups are in a unique position to capture the patient view on life with a rare condition, and the research that is been done to improve their treatment outlook. Heather shared the experience of the Batten Disease Family Association in conducting a detailed patient survey, and how it has shaped their work.

Download Heather’s slides here

Jabe Wilson - Consulting Director, Text and Data Analytics, Elsevier

Elsevier have been working in collaboration with US charities Cures Within Reach and Mission Cure to deliver Datathon project with the Pistoria Alliance. Here they were able to employ literature mining technology to identify and infer a number of exciting new drug repurposing ideas for chronic pancreatitis. At least one of these will be taken forward to be trialled beyond the computer this year.

Download Jabe’s slides here

Helen Springford - VP, Strategic Development, Illingworth Research

Helen’s talk looked at the experience of rare disease patients in smaller nations who are looking to take part in clinical trials. She focused on a young boy living with Duchenne in Iceland – ordinarily they would be very unlikely to be able take part in a trial, as sites would rarely be set up in Iceland; however the use of mobile research nurses within one Canadian trial meant that an Icelandic research nurse could be used, allowing a number of study visits to occur in Iceland, and thus allowing the family to take part in the trial.

Download Helen’s slides here

Gavin Jones - Director of Rare Disease, Open Health

Gavin’s talk was inspired by attendance of Findacure’s 2018 conference as well as the European Conference on Rare Diseases. In it he outlined some of the key things that patient groups can do to form strong partnerships with the Biopharma industry in order to develop new rare disease treatments. In particular he advocated the importance of considering the impact a patient group can have along the whole development pathway, including helping to secure marketing approval and reimbursement.

Download Gavin’s slides here

With thanks to

Thank you to all of our speakers, lightning talk speakers and panellists for sharing their work and experience with us, our Photographer Arnab Ghosal, and our volunteers Gayaneh Szenkovits and Lucy McKay. Finally, thank you to our sponsors, without whom this event would not have been possible: Platinum sponsor Pharnext, Silver sponsors Sobi and Takeda, and our Bronze sponsors Alexion, LifeArc, PharmacoMedics and SOM Biotech. Our sponsors provided financial support for this event. This event was solely organised by Findacure and our sponsors did not determine the content. All funds received from pharmaceutical companies were used in accordance with the ABPI code. Please note, sponsorship does not equate to endorsement of products or services.