Real-world evidence: the panacea for rare diseases?

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The publication of the National Institute for Health and Care Excellence’s real-world evidence framework in June 2022 has accelerated discussions about the role that real-world evidence can play in resolving gaps in knowledge and driving forward access to innovations for patients with rare diseases. Senior Policy and Public Affairs Executive, Joe Smale, reflects on a recent BIA-facilitated discussion on the potential of real-world evidence in rare diseases and the importance of patient involvement in future discussions.    

The rare disease ‘data gap’

It is well understood that the drug development cycle in rare diseases is stifled by the inherent lack of data available for such small patient populations. For life science companies working in rare diseases, the collection of real-world evidence (RWE) – data collected outside of the clinical trial setting – and its use during the drug development, access and post-access phase might hold the key to resolving many of the challenges involved in delivering much-needed therapies to people living with rare diseases.

In June 2022, the National Institute for Health and Social Care (NICE) published a framework setting out the circumstances in which real-world evidence can be used, in tandem with clinical trial evidence, to resolve the uncertainty surrounding a treatment’s effectiveness. The signal sent by NICE towards greater acceptance of RWE has accelerated discussions about other steps that need to be taken to support a shift towards greater collection and use of RWE elsewhere.

Discussions around RWE in the context of rare diseases can be complex to grapple with. Not only does it demand an understanding of the importance of data during the drug development cycle and the impact that a lack of data can have, but navigating the implications that RWE has on various parts of the healthcare ecosystem is no mean feat.

Assembling expert voices on RWE

It was with the objective of further exploring the benefits of RWE, and the implications of its collection and use, that the BIA recently brought together a group of expert voices from across the healthcare ecosystem and rare disease community for an in-person roundtable discussion.

To set the scene for the discussion, the CEO of one medtech company reminded us of the benefits that RWE can provide for people with rare diseases. Through the use of electronic health records, he explained how his company was helping to resolve delays in diagnosis by developing tools to support clinicians to diagnose hard-to-find rare diseases. Early data suggests that the tool can enable healthcare providers to diagnose patients with rare diseases three to four years earlier than through traditional methods.

Over the course of the discussion, we also heard from representatives of the rare disease patient group community who reminded us that whilst patients may have the most to gain from a shift towards greater use and acceptance of RWE, the burden of data collection (on which the use of RWE hinges) falls most heavily on patients and their families.

‘How should industry approach patients for more data, given their life circumstances and the additional impact this will have?’ was the question asked by industry colleagues. In response, patient group representatives emphasised the importance of securing patient “buy-in”. Providing patients with adequate information about the purpose of the data collection and how their data will be used is central to empowering patients to make these choices. Ensuring that data collection fits into and around the diverse lifestyles of rare disease patients and their families is also a key component that industry was urged not to neglect.

The way forwards

Looking to the future, the degree of optimism among the roundtable participants was mixed. Whilst the aspiration for the role that RWE would play in ten years’ time was clear, the path to getting there remains less so. Increased focus on RWE is likely to unveil further structural, technological, and ethical barriers. Overcoming these barriers will rely on the continued conversation between all relevant stakeholders so that the potential benefits of RWE can be mutually realised. Of standout importance to me is the need to ensure that patients, as the providers and beneficiaries of RWE, remain at the centre of all future discussions.

On the BIA’s part, we will continue to act as a facilitator to these discussions, seeking to bring a range of stakeholders, including patient representatives, to the table along the way.  


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