FORUM: Clinical trials for rare and ultra-rare diseases

On Thursday 24 March and Wednesday 30 March 2022, the Academy of Medical Sciences' FORUM, in partnership with the Faculty of Pharmaceutical Medicine, hosted a virtual workshop on 'clinical trials for rare and ultra-rare diseases'.

3.5 million people in the UK will be affected by a rare disease - defined as affecting fewer than 5 in 10,000 people - at some point in their lifetime.[1] 75% of rare diseases affect children and can prove fatal in early life.[2] There are approximately 7,000 distinct rare diseases and only 1 in 20 currently have available treatment options.[3]

The development of medicines for rare diseases remains challenging for a number of reasons, affecting different stages of drug development, for example:

• The underlying biology of rare diseases are often not well understood, providing limited opportunities to find biological targets for novel treatments.
• The patient populations of people living with any single rare disease are by definition small, making it more difficult to gather enough evidence to prove the safety and efficacy of medicines for rare diseases in clinical trials.
• Assessing the efficacy and safety of medicines for rare diseases and subsequently adopting approved treatments can both be challenging. The requirements for getting regulatory approval for a medicine for a rare disease often dictate and heavily influence the decisions made when identifying potential treatments and conducting clinical trials.

Central to many of these challenges are the design, execution and evaluation of clinical trials. As such, this workshop brought these communities together, along with the wider life sciences sector, to try and establish where innovations in clinical trials could be applied to rare diseases and what criteria for acceptability these innovations have amongst trial participants, trial sites, trial sponsors, regulators and health technology assessors.

The objectives of the workshop were therefore to:

• Identify tractable advances or innovations in clinical trial design for rare diseases that could improve both the participant experience and likelihood of success.
• Examine the relative acceptability of these innovations to people living with rare diseases and/or their carers, regulatory bodies, clinical trial sponsors and clinical trial sites.
• Explore practical considerations, changes and reassurances that need to be implemented, and by whom, to adopt these innovations.

This invite-only FORUM workshop took place via Zoom in two parts from 9.00 to 12.00 GMT on Thursday 24 March and from 13.30 to 16.30 BST on Wednesday 30 March.

To find out more, please get in touch with the FORUM team at forum@acmedsci.ac.uk

[1] https://www.genomicsengland.co.uk/understanding-genomics/rare-disease-genomics/

[2] Department of Health and Social Care (2021). The UK rare diseases framework. https://assets.publishing.service.gov.uk/government/uploads/system/uploads/attachment_data/file/950651/the-UK-rare-diseases-framework.pdf 

[3] PhRMA (2015). A decade of innovation in rare diseases: 2005-2015. http://phrma-docs.phrma.org/files/dmfile/PhRMA-Decade-of-Innovation-Rare-Diseases4.pdf