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Drug Repurposing for Rare Diseases Conference 2020

Every year Findacure holds its conference – Drug Repurposing for Rare Diseases – in late February to celebrate Rare Disease Day. This is a chance for a diverse collection of people with an interest in rare diseases and drug repurposing to gather together and share their knowledge and experiences, and hopefully drive forward the redevelopment of old drugs for rare patients.

In many ways 2020 was no different. We gathered in London to hold what was a fantastic and engaging event, featuring speakers from across the community and highlighting innovative work, new ideas, and personal experience in the field. However, in other ways, the 2020 conference was a big change. The event was hosted at a new venue – The America Square Conference Centre – included multiple sponsor and patient group exhibitors, featured more varied talk formats and lengths, and included tech guy called Russel and a hot lunch (yum). All these little changes, along with a lot of hard work, combined to make the 2020 conference the largest and most successful to date, with more attendees than ever before but that same Findacure feel.

A huge thank to everyone who attended and supported the event, helping to make it such a success. Of course, if you weren’t fortunate to be there on the day, you can read on for a full review of the day, and a chance to re-watch some of the exceptional talks delivered by our speakers.


Rick Thompson, CEO, Findacure

As is now traditional, the main programme of the conference was opened by Findacure’s CEO, Rick Thompson. Rick introduced the basics of drug repurposing – that it essentially a form of recycling where we find new uses for existing drugs, ideally based on the outcomes of clinical trials. Rick highlighted the potential of drug repurposing to provide a different model of drug development for rare conditions, one which should be faster and cheaper, and therefore have the potential to deliver lower cost treatments for rare disease patients.

Having set the scene, he used the academic-led clinical trial MCDS-Therapy as an example of the way repurposing is a more accessible research route for rare conditions. This project is an international collaboration led by Newcastle University, which aims to run the first every clinical trial in the rare bone disease MCDS. The team have secured EU funding to test a generic drug used to treat epilepsy – carbamazepine – to see if it can prevent the malformation of bones and reduce pain in MCDS patients. Recruitment is almost complete in the UK, and the hope is that this academic model will be replicated in other rare conditions in the future.

View Rick’s slides here. 

Watch Rick’s talk below:

Dr Will Evans, Chair, Niemann Pick UK Taylor Fields, Senior Vice President, Intrabio & Dan Lewi, Co-founder, CATS Foundation

Over the last couple of conferences a number of speakers and delegates have raised the idea of pooling rare diseases with similar underlying causes or disease mechanisms together into a single clinical trial. In theory this could improve recruitment into trials, but at very least would speed the development process for multiple rare conditions. Well for the first time this year we were able to feature such a trial and highlight the crucial role that patient groups have played in getting it set up.

The project in question is run by Intrabio. They are looking to repurpose the compound N-acetyl-DL-leucine into three distinct rare conditions – Tay Sachs, Niemann Pick, and ataxia-telangiectasia – and with the help of patient organisations, have sent up a master protocol that has allowed them to begin recruitment for trials in all three conditions.

In their talk Will Evans, Chair of Niemann Pick UK, highlighted how he came across N-acetyl-DL-leucine as a possible treatment for Niemann Pick, with the potential to improve coordination and motor function. While Niemann Pick UK investigated the potential of getting access to it off-label for patients in the UK, they also discussed the compound with some of the researchers who were involved in founding Intrabio. This led the company to take the drug on, and as Taylor Fields explained, develop a trial for three different conditions concurrently. Taylor really stressed the importance of patient group collaboration in the process – it helped the company to recognise that the initial advice they received, to run a double-blind placebo-controlled trial, was not appropriate for the study. They stuck to this line and were able to secure support from the regulators for an open label study with a washout period as a control arm. Taylor explained, “The collaboration with the patient groups was intrinsic. We had to listen to them. If we were running a double-blind placebo-controlled trial right now I don’t know where we would be with recruitment. We wouldn’t be far, and instead we have finished recruitment for our Niemann Pick C study within three and a half months”. Dan Lewi from the CATS Foundation really echoed the importance of the collaboration in this project. For Tay Sachs, a failed trial could potentially set research back ten years – by ensuring their voice was heard in the trail set up and design, they have the best chance to deliver a successful trail, and encourage further developments in the future.

Will, Dan, and Taylor’s talk highlighted so much of what is good about the rare disease community. Passion and drive to deliver change for patients, a willingness to collaborate, and a desire to use innovative approaches to deliver clinical programmes in the best way possible. It set a fantastic tone for the rest of the day and highlighted the potential of a collaborative approach to repurposing to both benefit patients and bring together disparate stakeholders to deliver it.

 Will, Dan, and Taylor’s slides and video will be available soon.

Dr Alex Bullock- Principal Investigator Structural Genomics Consortium, Nuffield Department of Clinical medicine

Repurposing provides a pathway for academics to move their work into the clinic. This is beautifully illustrated by the work of Dr Alex Bullock from Oxford University, who gave our next talk. Alex is essentially a structural biologist, interested in the molecules and signalling pathways in the human body. However, early in his research career this led him to the world of FOP (Fibrodysplasia Ossificans Progressiva) or stone man syndrome, a truly horrific disease where parts of your soft tissue turn to bone over the course of your life.

Alex’s work led to his involvement in identifying the underlying cause of this condition and subsequently identifying a pathway that could treat the disease. Rather than leaving the research there, Alex tested this mechanism in model systems of FOP, demonstrating that ALK2 inhibitors prevented FOP affected mice from developing their characteristic bony plates in the soft tissue. With interaction and support from the patient community, this led Alex to search for and secure further funding to test this potential treatment within humans. He is now recruiting for a clinical trial to test this treatment in patients.

Watch Alex’s video below:

Sheela Upadhyaya, Associate Director, Highly Specialised Technologies, NICE

Throughout our earlier talks, reimbursement and pricing of repurposed drugs was a common question – we’re thrilled to see new drugs reaching the clinic, but what will they cost if they are successful and will they be affordable so that they can reach patients?

Luckily our next speaker, Sheela Upadhyaya from NICE, was able to give some thoughts and reflections on this. Initially Sheela gave a fantastic overview of NICE and the different pathways available for health technology assessment. In particular, she highlighted the criteria to be included on the Highly Specialised Technologies pathway. While many people assume that this should be the default option for an orphan drug, rather drugs assessed in this route should meet a number of criteria including requiring national commissioning and delivery at a small number of centres, have a high cost, and potential for life long use.

With regard to repurposing, Sheela recognised that there are an increasing number of projects beginning to reach the market and NICE are beginning to think about different strategies to examine them. Fundamentally though, repurposing clearly should offer a somewhat lower priced route to drug development, and potentially open up avenues for patient access. NICE’s hope is to see transparency around costs from developers, and fair pricing for the products they have developed. Whether drugs are being developed by big pharma, small biotechs, or academic collaborations, they encourage early engagement with NICE, to ensure the right data is available, and that the route to reimbursement is as smooth as possible.

As our morning programme of talks drew to a close, we took a few minutes to celebrate the winners of Findacure and Medics 4 Rare Diseases Student Voice Essay Prize. This competition encourages medical students from around the world to write essays that focus on rare diseases, their impact on the patients who live with them, and the role that medical professionals play in the lives and journeys of these people. Three of our four winners were present on the day and they each received their certificates in front of our delegates. You can find out more about our winners and their entries here.

Sandy Ayoub, Student Voice 2019 Runner Up, St George's, University of London

After a hearty lunch with delegates from all walks of the rare disease community enjoying a chance to share their experiences, we returned to hear from one of our Student Voice Prize winners. Sandy Ayoub is training in medicine at St Georges University London, and hopes to specialise in genetic medicine in the future. She took the stage to share her experiences in writing her essay, which focussed on the psychological burden that rare diseases have on patients and families, as well as the physical symptoms. To write her piece, Sandy spent time talking directly to a family affected by FOP to understand the real impact of this devastating condition.

One of the key takeaways from Sandy’s talk was the difference between demoralisation and depression. For many people the symptoms of their condition, pain in particular, can be hugely demoralising, particularly when they see no end in sight or hope for change. Sandy said “During [the FOP patient’s] last rheumatology review, he was told by his rheumatologist, ‘There is nothing more I can do’”. This type of response can only drive demoralisation and damage mental health. Clinicians have a huge role to play in helping people by providing understanding and ensuring that patients know that there is never a time when nothing can be done.

Watch Sandy’s talk below:


Dr Anthony Hall, Chief Medical Officer, Healx

After Sandy’s talk Findacure founder Tony Hall took the stage to introduce the way that Healx is using AI to identify new repurposing opportunities and accelerating rare disease drug development. The Healx AI system allows a “hypothesis free” approach. They don’t need to understand the disease mechanism fully but can identify repurposing candidates based on ‘omic data sources to work out gene expression patterns for a condition and match them to a drug. This has so far proved successful in a number of cases, including Fragile X, where there have previously been a swathe of failed trials. The Healx approach has identified a new combination of generic drugs that has shown great promise in returning certain ‘Fragile-X-like’ behaviours in mice to normal. The team are now working on a protocol, along with a US-based patient group called FRAXA, to bring this drug to a in human clinical trial.

Barbara Goodman, President & COO, Cures Within Reach

Cures Within Reach have been working in drug repurposing in the US for many years and had a huge role to play in triggering Findacure’s interest in repurposing and our attempts to develop a drug repurposing social impact bond. Due to this, it was fantastic to finally have them present at our conference, with their President Barbara Goodman talking about some of their work in the US, and the ways they build value in repurposing opportunities.

Barbara really highlighted the way that Cures Within Reach aim to fund projects at a critical stage of development – something she termed the “come back when” time. This is the time when there is some interest from investors or more traditional funders, but they are looking for that bit more evidence to convince them to come on board. This means that Cures Within Reach is able to support projects that may otherwise become stuck and provide an amount of funding that is small but impactful: it catalyses further investment down the line. Interestingly, when these projects have commercial potential Barbara revealed that they do not use the term repurposing. In their experience companies and investors don’t like it, perceiving a lack of innovative. Instead these projects are referred to as “proven therapies that enhance the therapeutic benefit”. Whatever they are named, it was clear from her talk that Cures Within Reach has a model that can deliver significant impact to repurposing research and want to build this internationally in the future.

 View Barbara’s slides here.

 Watch Barbara’s talk below:

Kelly Vance, Secretary and Patient Representative, LAM Action

Our final talk of the day was delivered by Kelly Vance, who reflected on her personal experience of being diagnosed with the rare condition Lymphangioleiomyomatosis, or LAM, and her subsequent journey to treatment. LAM is a progressive disease of the lungs that effects almost exclusively women. When Kelly was diagnosed in 1999, she was given only 10 years to live, with a prognosis of gradual but severe degeneration in her ventilation. She initially showed very slow progression, but as the disease began to progress mare rapidly she was lucky enough to receive a repurposed and fully approved generic drug, sirolimus, which has been used to successfully stabilised her condition.

Kelly’s talk recounted the journey of this drug to patients, and the role played by patient associations in both the US and UK to bring it to patients. Her talk closed by reflecting on the power that a new treatment, even one in development, has to transform the outlook of patients. It helped the community as a whole move from a position of despair, with a bleak outlook and reduced lifespan, to one of hope. A crucial message upon which to end our day.

View Kelly’s slides here.

Watch Kelly’s talk below:



Lightning talk session

A staple of all Findacure events is our lightning talk session. This is the chance for conference delegates to propose their own talk to highlight their work in rare diseases. Successful applicants take the stage with the aim of beating the five-minute bell and deliver their points in an interesting and engaging way. The 2020 lightning speakers were no different.

Tony Thornburn, Chair, Behçet's UK

In the first of our lightning talks looked at the challenge facing Behcet’s patients, a condition which is apparently diagnosed simply by ruling out lots of alternatives. In his talk, Tony reviewed the specialist centres that patient have access to in the UK, and some of the repurposing options open to the community.

View Tony’s slides here.

Lisa Dilworth, Vice President Rare, Orphan and Pediatrics, Synteract

In her talk Lisa Dilworth explained the potential benefit a CRO can bring to a clinical trial or drug development for rare disease. She highlighted some of the major challenges that companies developing drugs for rare conditions face, and how CROs try to tackle these issues.

View Lisa’s slides here.

Watch Lisa’s talk below:


David Cavalla, CEO, Numedicus

During his talk David introduced the website This is an online database that aims to collate information on repurposing opportunities, connecting compounds with mechanisms or indications. The site is open to collaborative input, allowing the knowledge base to grow based on the existing literature and database of patents.

View David’s slides here.

Watch Davids’s talk below:


Paul Wicks, Independent Consultant, Wicks Digital Health

Paul’s talk highlighted the potential power of the digital world to drive change in rare conditions. In particular, he focussed on an example where an online ALS community were able to run an online self-reported trial for a widely available generic drug, eventually proving that it had no patient benefit.

Watch Paul’s talk below:


Karen James, Public Relations Director, MEBO Research

Karen shared her personal experiences of living with the malodour condition, trimethylaminuria. In this disease patients naturally emit highly unpleasant odour and there is very little to be done to control it. Naturally this has far reaching consequences throughout their lives, impairing social interaction, harming mental health, and driving some people to self-harm or suicide. Karen reflected that “it is considered socially acceptable to discriminate against people who have a malodour disorder”, and this is one of the hardest things to overcome.

View Karen’s slides here.

Watch Karen’s talk below:



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 Barbara Asboth, and our volunteer Lucy McKay. Finally, thank you to our sponsors, without whom this event would not have been possible: Gold  sponsors Sobi, Ergomed, LifeArc and Newron, and our Bronze sponsors PharmacoMedics and Roche. And, of course a massive thank you to Healx, our 2020 Corporate Partner. 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.


Drug repurposing for rare diseases 2020

by Philippa Norman time to read: 18 min