Rare Disease Day – Findacure Scientific Conference: Drug Repurposing for Rare Diseases

This year’s Findacure Scientific Conference took place in London on Rare Disease Day and was again focused on Drug Repurposing for Rare Diseases. The conference brought together over 100 representatives from patient groups, researchers and members of the healthcare industry to discuss the importance and the latest developments in drug repurposing for rare diseases.

Rick Thompson from Findacure started the conference with an introduction to drug repurposing for rare diseases and its advantages. Currently from the ~7000 rare diseases only 400 have treatments. Finding new uses for existing drugs to treat a new population offers several advantages such as being faster and cheaper, the known safety profile, side effects and pathways of action of the drug and the reduction in early phase trials. To support drug repurposing Findacure is creating a Social Impact Bond (SIB) program to enable investment in drug repurposing projects for rare diseases that have high costs for the NHS by reducing the burden of the current care costs, generating returns from healthcare savings. If this model is successful this will be a new way to quickly develop new treatments for rare diseases. Findacure is promoting an open call for new repurposing ideas.

Tim Barrett from the University of Birmingham introduced drug repurposing for Wolfram syndrome, a very rare disease with no cure, no treatment and little research. p21cip1 was identified as a drug target and a drug screen for repurposed drugs took place. The screening identified sodium valproate, a drug used for epilepsy, as a potential candidate. The hypothesis was that sodium valproate administration would slow the rate of progression of neurodegeneration in Wolfram syndrome compared with current standard of care. Funding for a phase II efficacy study was awarded to pursue this idea. Tim ended his talk suggesting the possibility of having several arms in a clinical trial with different diseases with similar mechanisms or phenotypes being tested with a same drug.

Bev and Georgia Hart talked about their experience as a family affected by Friedreich’s ataxia. They specifically focused on their experience participating in an IFNγ clinical trial in the US highlighting how being able to act is so important for patients and how patients should be involved in deciding the outcomes of clinical trials.

Richard Wyse from The Cure Parkinson’s Trust (CPT) presented Parkinson’s as a series of rare diseases, unique to each patient. Drug repositioning represents one of CPT’s major therapeutic initiatives. They are currently promoting a Linked Clinical Trials initiative to evaluate, prioritise and repurpose existing regulatory-approved medications that may also have direct therapeutic benefits for patients with Parkinson’s.

Christine Charman from the company Takeda presented the TAK-celerator, a new business model to accelerate development of therapies in rare diseases. The TAK-celerator focus is to establish the capacity to execute rare diseases projects with external partners, to bridge the gap between academia and industry providing a mechanism to accelerate early stage programs to preclinical development and to reposition assets from the Takeda pipeline in addition to de novo opportunities

Daniel O’Connor from the MHRA and Jonathan Underhill from NICE talked about regulation, implementation and optimisation in drug repurposing. Daniel mentioned the regulatory incentives to support repurposing such as a new therapeutic indication for a well-established substance, Paediatric use marketing authorisation and Orphan drug designation. Jonathan presented the medicines optimisation approach, a person-centred approach to ensure people obtain the best possible outcomes from their medicines. This approach sees shared decision-making as an essential part of evidence-based medicine and is seeking to use the best available evidence to guide decisions about the care of the individual patient, considering their needs, preferences and values. Jonathan remembered that NICE offers guidelines not tramlines and that informed, shared decision making is key in drug repurposing for rare diseases.

This was followed by six lightning talks with five minutes presentations on mobilising information resources for rare diseases, on bringing the clinical trials to the patients in an in-home service, and on cases studies of drug repurposing in polyglucosan body disease, MdDS and mast cell and on accelerating the UK drug repurposing pipeline.

The last talk was given by Pan Pantziarka from the Anticancer Fund who shared their projects on repurposing non-cancer drugs for new indications in oncology in rare cancers.

BHD is a rare disease with no cure or preventative treatments available.  Greater understanding of the molecular pathways in BHD and their roles in pathology will enable researchers to identify drug target candidates since the BHD clinical trial with Rapamycin, an mTOR inhibitor, did not show promising results (Gijezan et al., 2014). Repositioning of known drugs could then be useful in discovering treatments for BHD and other rare diseases faster and more cost effectively than conventional drug development.

  • Gijezen LM, Vernooij M, Martens H, Oduber CE, Henquet CJ, Starink TM, Prins MH, Menko FH, Nelemans PJ, & van Steensel MA (2014). Topical rapamycin as a treatment for fibrofolliculomas in Birt-Hogg-Dubé syndrome: a double-blind placebo-controlled randomized split-face trial. PloS one, 9 (6) PMID: 24910976

Leave a Reply

Your email address will not be published. Required fields are marked *