Driving research, providing support and improving outcomes for rare disease patients and their families



The team from the Myrovlytis Trust attended the drug repurposing for rare diseases conference (14-15th June 2021) organised by findacure. Findacure aim to build a strong, supportive and collaborative rare disease community to transform the lives of people affected by rare diseases. This conference aimed to bring together industry, patient groups, researchers and clinicians and get them thinking about how we can use drug repurposing in the rare disease field.

Of the 7000 recognised rare diseases, only 400 have licensed treatments. Finding new treatments for all these conditions would take 500 years at the current rate of drug development. There is a clear, urgent need for new treatments and drug repurposing is one way to accelerate this.

Day 1 Highlights

Rick Thompson, CEO of findacure highlighted the advantages of drug repurposing:

A series of short talks from Dr Rona Smith (University of Cambridge), Dr John Liddicoat (University of Cambridge) and Professor Indi Banerjee (Manchester University) showcased examples of drug repurposing and what is needed to drive forward a drug repurposing project. It is more common for clinicians and researchers to pursue this type of project as there can be little financial incentive for industry. However, the cost of developing a new treatment should be weighed against the cost of lifetime healthcare for patients.

Two parallel sessions featured 5 minute ‘lightning talks’ from a range of speakers from patients, clinicians and industry. They focused on the importance of advocacy and raising awareness of rare diseases and discussed the challenges of doing this.

In a session hosted by LifeArc, the headline sponsor of the conference, the challenges of creating collaboration between patient groups and industry was highlighted, from initiating a discussion through to intellectual property rights. However, there are clear benefits of involving industry – they often have greater resources than a smaller rare disease charity, with expertise in the regulatory affairs aspect of getting a drug to market. To help navigate collaboration with industry, LifeArc recently published a report entitled “Repurposing medicines: the opportunity and the challenges”.

Day 2 Highlights

The second day of the conference concentrated on drug repurposing in action. Talks from industry featured George Drakakis (CEO of Purposeful) and Kelly Gray (open innovation manager at Astrazeneca); both considered how patient groups and researchers can collaborate with industry to advance drug repurposing projects. Pulse Infoframe led a discussion on the need for quality data and how this can increase interest from industry to form partnerships. Patient data is vital for all stages of drug repurposing, from pre-clinical through to approval. A patient registry, or a large patient dataset with quality data can be invaluable in clinical trials, in which recruiting enough patients can be difficult due to the rarity of the disease.

Medical student Catriona Chaplin gave an overview of her winning essay for the student voice essay competition. She explained that rare diseases aren’t often a focus of medical training, and through spending time with patients of rare diseases learned that this lack of awareness of rare diseases has a significant impact on both a patient’s life and the healthcare treatment they receive. Catriona also highlighted the fact that patients are in fact often the ‘expert’ in their own rare disease and that doctors need to listen and work in partnership with their patients to ensure the best care.

One of the major strengths of the rare disease community is the involvement of and engagement with patients. We heard from Professor Robert Semple (University of Edinburgh) about the scientific and clinical perspective of a rare condition, PIK3CA-related overgrowth syndrome. This was followed up by Mandy Sellars who has this condition and kindly shared her lived experience. We also heard an overview of the journey to repurpose nitisinone for alkaptoneuria (AKU) by a panel of people from industry, research and AKU patient representatives. The final session of the conference featured Dr David Fajgenbaum who spoke about being diagnosed with the inflammatory disorder Castleman Disease during medical school. He founded the Castleman Disease Collaborative Network, to advocate for and promote research into Castleman Disease and has established a patient registry and sample biobank to enable the identification of new treatments.

Take Home Messages

  1. Collaboration, collaboration, collaboration! Establishing a solid network between different groups from patients, through to researchers and clinicians, industry partners and regulatory agencies is critical to the success of a drug repurposing projects. Patient charities can be the central point of collaboration and work to bring everyone together.
  2. Projects should be patient focused. Patients need to be at the centre of research and their voice needs to be heard throughout the drug repurposing process.
  3. Clinical trial design needs to be innovative. There are additional challenges when conducting clinical trials for a rare disease, and a multiplatform approach is often the best method. This can involve testing the same drug on multiple, related diseases or testing multiple drugs on the same disease.
  4. Patient registries are important in providing quality data for researchers and clinicians, establishing industry partnerships and clinical trial design.
  5. Raising awareness of rare diseases is vital to improve patient’s lives and the treatment they receive. Rare diseases need to be thought of as more than just the physical symptoms and care should be approached holistically.

The Myrovlytis Trust team would like to thank Findacure for organising such an engaging and thought-provoking meeting that has had an impact on us and will drive our thought processes as we move forward with various initiatives. We are looking forward to what the future brings for drug repurposing in rare diseases!