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Drug Repurposing for Rare Diseases 2018

Findacure’s fifth annual conference was held on the 27th February 2018 at the Royal College of Nursing, London.

Despite a snow storm causing serious travel disruption around the UK we still saw over a 100 delegates through the door to see our exciting programme that the central role that both patient groups and academics are playing in driving drug repurposing projects forward in the rare disease space. There are many different approaches to deliver this type of research, but all are grounded in a collaborative approach that unites patient experience, scientific understanding, and business knowledge. We are excited to see how this pattern will bring real impact to patients in the future.


A key objective of all Findacure events is ensuring a variety of interest groups are given a voice. Our 2018 conference was no exception: we had excellent talks from patient groups, academics, industry representatives, researchers, and other businesses. Scroll down to read summaries of our seven main talks and watch those that were recorded.

Rick Thompson - CEO, Findacure

Rick shared why Findacure believe drug repurposing is the future for rare diseases, highlighting the efficiency of utilising drugs which are already available. He gave an overview Findacure’s drug repurposing activities in 2017, including a literature review of published examples of rare repurposing, and the results of our Rare Repurposing Open Call. Finally, he introduced the MCDS therapy project, in which Findacure will play an exciting role disseminating information about this new repurposing clinical trial to patients and the wider rare disease community. 

Caroline Kant - Founder & Executive Director, EspeRare Foundation

Caroline is one of the founders of EspeRare – a Swiss not for profit foundation, dedicated to drug repurposing. EspeRare’s unique model evolved after Caroline’s own experiences, firstly as a mother to a daughter with a rare condition, and secondly as a member of a pharma company who had identified repurposing opportunities only to see them rejected on business grounds. EspeRare secures the rights for compounds that are shelved by pharma,  and develops them for completely new rare indications. Once early clinical evidence of efficacy is secured, the Foundation looks to re-licence these drugs back to pharma, who can then bring them to market. In making such deals EspeRare is able to have some influence over patient access, and the visibility of research data. This model is already proving successful, and Caroline’s talk certainly captured the interest of our audience.

Tracy Lynch - Co-founder and Chief Executive, Wolfram Syndrome UK (WSUK)

At the age of two, Tracy’s daughter began experiencing choking attacks, as well as problems with her bladder and eyesight. Following many years of medical appointments, scans, and referrals she was diagnosed with early-stage diabetes at six year old, however this did not explain all of her symptoms. After three more years of tests and a muscle biopsy, she was diagnosed with Wolfram Syndrome. Tracy and her family walked away from their appointment with very little information on what this meant for them and their daughter’s future, what support was available or how to move forward. Finding nothing further online, Tracy began looking for other people affected by Wolfram Syndrome and made the decision to set up a support group, with WSUK becoming an official charity five years ago. Tracy then found Prof. Tim Barrett at Birmingham Children’s Hospital, who was researching the condition, and setting up a multidisciplinary clinic. Since then, Prof. Barrett has been involved in a project to repurpose sodium valproate in wolfram syndrome patients to halt or slow down the disease progression. Last year, in 2017, this was approved for a clinical trial. Despite approval, progress in starting the trial has hit several hurdles – including the cost of the drug rising from £150,000 to £500,000. They are currently waiting, with the hopes of starting recruitment in April of this year. WSUK has been involved in fundraising for this trial, including funding pre-trial research and setting aside £33,000 to cover costs of patients attending the clinical trial. Tracy’s talk hit home with many of our audience – epitomising the determination of rare disease patients and their families.

Michale Bouskila-Chubb - Head of Business Development, Healx

Healx is a Cambridge-based start up focused on identifying new repurposing opportunities for rare diseases in collaboration with patient organisations. They have a data driven approach to finding drugs to move into rare conditions and have been working with several charities over the past few years. Michale Bouskila-Chubb, Head of Business Development, shared one of their latest success stories in her conference talk. In partnering with the US group for Fragile X, FRAXA, Healx has been able to identify a number of generic compounds that have potential to treat this condition. Excitingly, FRAXA were able to test these compounds in their own US labs in their Fragile X model systems. One showed such promise that the patient group are now planning to fund a clinical trial into its effect on patients.

Prof Michael Briggs - Professor of Skeletal Genetics, Newcastle University

Mike is part of the team leading the MCDS therapy project, introduced earlier in Rick’s presentation. In patients with MCDS, the gene that contains the instructions for producing the protein collagen-10 is faulty. Collagen-10’s normal function is to direct the growth of bones, but the faulty gene in MCDS patients causes it to misfold. This misfolding means collagen-10 cannot escape cells (or more specifically, the endoplasmic reticulum, which is the part of the cell that folds and releases protein molecules) where it should form the hard bony matrix. The build up in the cells causes endoplasmic reticulum stress, while the lack of collagen outside causes the flaring of the ends of bones, and joint misalignment. This leads to a great deal of pain for patients, and has a large impact on their quality of life. Pre-clinical work in both mouse and cell models showed carbamazepine, a drug originally used as an anti-epileptic in the 1960s, reduces endoplasmic reticulum stress and flaring of the ends of bones. It also increases growth velocity and bone length. The researchers secured Orphan Drug Designation for this use of carbamazepine in October 2016, and in December 2017, they received funding from the EU’s Horizon 2020 grant to run a full clinical trial. Mike gave a great explanation of the science behind the trial and plans for its future.

Emily Crossley - Co-founder and Joint CEO, Duchenne UK

Emily explained how her life changed when her eldest son was diagnosed with Duchenne muscular dystrophy, a genetic muscle wasting disease, which almost always affects boys. Following diagnosis, Emily and her family were faced with a choice – accept the disease, or fight it. They chose to fight it. Emily promptly set up Duchenne Children’s Trust and in 2016 merged with Joining Jack to form Duchenne UK. Over five years, Duchenne UK (under its previous banners) has raised £10 million, and committed almost all of this to funding research and trials. In 2013, a paper was published looking at tamoxifen, a breast cancer drug, as a treatment for Duchenne and pre-clinical studies proved positive. Last year, Duchenne UK provided funding for a trial coordinator to run a clinical study, and as a result of that funding the trial will now happen in the UK. Duchenne UK also worked with the trial team to increase the eligibility of those considered for the trial, and have funded an additional study to allow non-ambulant patients to take part. Emily highlighted the advantages of being involved in the trial, as well as the challenges they’ve faced and lessons learnt along the way, including being realistic about cost, timeframes and regulatory demands, and making sure you have in-house expertise. Emily also echoed a long-held belief of Findacure’s – that funding research into rare diseases can also lead to answers in common diseases. Emily’s presentation showed just how important patient organisations and charities are and how they really can lead the way in drug repurposing for rare diseases.

Dr Feruza Nasirova - Therapeutic Area Medical Head Rare Disease, Novartis

Feruza shared the story of Novartis’ work in bringing one of their existing drugs to tuberous sclerosis patients. Tuberous sclerosis is a rare condition that leads to the formation of benign tumours throughout the body, with particular issues in the kidneys, brain, and skin. Novartis worked in collaboration with both patient groups and academia to take a drug traditionally used as an immunosuppressant for transplants, and use it to treat tuberous sclerosis tumours. The programme has been running for over 10 years, and Feruza shared the vital role that patient groups played in the process , and Novartis’ continued commitment to the condition by developing a global registry for tuberous sclerosis.

Lightning talk session

When registering, all delegates were welcome to submit a 5-minute ‘lightning talk’ about their own experiences in drug repurposing for rare diseases. The Findacure team chose our favourite six suggestions, all of which were delivered excellently in the day’s dedicated session. Thank you to everyone to took on the challenge!

Barbara Asboth - Barbara Asboth Photography

Barbara Asboth introduced her “1 in 17” project, aimed at documenting the everyday lives of rare disease patients through a series of photographic essays.

Jens Harald Kongose - Founder & Strategic Lead, Clinical Survey Outcomes

An impromptu addition to the programme, Jens Harald Kongsoe presented on the importance of obtaining patient feedback in developing medications, and how collecting this early on can influence and improve the presentation of drugs in subsequent trials.

Lucy McKay - Founder, Medics4RareDiseases

Lucy announced the fantastic news of S4RD’s graduation, to become Medics4RareDiseases the following day (Rare Disease Day). Medics4RareDisease is a great organisation, encouraging students and doctors in training to consider rare diseases and improve the patient journey.

Richard Hampson - CEO, Thelial

Richard Hampson, CEO of Thelial, introduced his work to understand the biology of junctions between cells, and how he hopes to repurpose compounds to treat multiple rare conditions that are influenced by cell junctions

Rod Hall - Managing Director, Mucokinetica

Rod Hall, Managing Director of Mucokinetica, shared an exciting drug opportunity for cystic fibrosis – repurposing MKA 104, a drug which has been in clinical use in Japan for several decades as an intravenous anticoagulant therapy.

Prof Tim Barrett - Professor of Paediatrics, University of Birmingham

Tim, who also spoke at our 2017 conference, shared the rare disease progress taking place in the West Midlands and the model they are hoping to implement to increase the number of rare diseases with available treatments.


Drug Repurposing for Rare Diseases 2018

by Libbie Read time to read: 13 min