Dr Annabel Griffiths
Head of Rare Diseases, Costello Medical
Seeking to approve rare disease treatments as quickly as possible means making decisions based on limited data, with innovative methods used to reduce uncertainty.
There are ~7,000 rare diseases but fewer than 5% have an effective treatment.1,2 This means the vast majority of patients and families find themselves without a treatment option. Therefore, when potential treatments are found, they need to be evaluated quickly to determine if they are safe, effective and worth the amount of money they will cost.
Making decisions about new treatments
Regulatory authorities, like the Medicines and Healthcare products Regulatory Agency (MHRA) and the U.S. Food and Drug Administration (FDA) endeavour to evaluate the safety and efficacy of these products as early as they can. Countries also decide whether or not to pay for treatments based on the costs and the benefits.
There are processes in place such as the MHRA’s new Innovative Licensing and Access Pathway (ILAP) for ground-breaking products that have the potential to offer benefit to patients with life-threatening or seriously debilitating conditions.3 This programme aims to reduce the time to patient access by encouraging input from all relevant authorities early in the development process.
By evaluating rare disease treatments quickly, decision-makers often have to make judgements based on limited data, for example, from small patient populations and short trials without a placebo control. Such data are associated with a lot of uncertainty, whereby results could be unclear or inconclusive.
When potential treatments are found, they need to be evaluated quickly to determine if they are safe, effective and worth the amount of money they will cost.
How to tackle uncertainty
Developers of treatments aim to think creatively about how best to reduce the risk of uncertainty at the time of decisions being made.
The most robust, patient-relevant data possible should be collected, with the novel HERCULES collaboration in Duchenne muscular dystrophy paving the way for how to achieve this.4 In the absence of data, experts – patients, caregivers or doctors – often advise on what are reasonable assumptions. This feedback can be collected and analysed in different ways to account for potential bias.5 Through innovative strategies and working collaboratively with authorities, developers strive to bring the right treatments to patients as early as possible.
1 Haendel M, Vasilevsky N, Unni D, et al. How many rare diseases are there? Nat Rev Drug Discov 2020;19:77-78. | 2 Kaufmann P, Pariser AR, Austin C. From scientific discovery to treatments for rare diseases – the view from the National Center for Advancing Translational Sciences – Office of Rare Diseases Research. | 3 Medicines and Healthcare products Regulatory Agency (MHRA). Innovative Licensing and Access Pathway (ILAP) for medicines, 2020. www.gov.uk/government/publications/innovative-licensing-and-access-pathway-ilap-for-medicines. Last accessed 14.02.20. | 4 Duchenne UK. Project HERCULES, 2018. www.duchenneuk.org/project-hercules. Last accessed 14.02.20. | 5 Gosling JP. Methods for eliciting expert opinion to inform health technology assessment, 2014.