More than 30 million people across Europe live with a rare disease, yet fewer than 5% of these conditions have an approved treatment. In this context, access — not just innovation — is the defining challenge.

With diagnostic delays spanning years and a severe lack of standard-of-care therapies, the promise of emerging orphan drugs is often undercut by fragmented, slow-moving pathways to market. In this context, where very minimal clinical trial data is available, real-world evidence (RWE) has started to play an increasingly vital role in securing not only regulatory approval but also broader, long-term patient access.

During a recent webinar, senior leaders from Sciensus were joined by guest speaker Chris Hoyle, Head of Market Access, Pricing & HEOR at Immunocore, to discuss how rare disease drug developers can better leverage real-world data to support reimbursement, meet regulatory demands, and improve patient outcomes.

RWE: From optional to essential

“The question was once whether we should use real-world evidence at all,” said Dr Raymond Huml, Vice President, Rare Disease Strategy at Sciensus. “Now, it’s really a matter of where you should use it, how best to use it, and how to use it most economically.”

The speakers included:

  • Ross Law: Moderator, GlobalData
  • Dr Raymond Huml: Vice President, Rare Disease Strategy, Sciensus
  • Noolie Gregory: Head of Evidence Generation, Sciensus
  • Chris Hoyle: Head of Market access, Pricing & HEOR, Immunocore

Supporting broader access for rare disease assets

There are three phases where real-world evidence is now employed: pre-approval, where it supports registration packages, often through disease natural history data; pre-reimbursement, where early access programmes gather essential patient insights; and post-reimbursement, where ongoing data collection may be mandated by health authorities to assess long-term outcomes.

But with many companies still viewing real-world evidence activities as “an additional cost on top of the clinical trial”, Chris Hoyle argued it can be a powerful tool for overcoming one of the greatest challenges in orphan drug development: patient access.

“Real-world evidence is a supplement,” noted Chris Hoyle, “and the better you supplement what is inevitably a single-arm trial, the more likely you are to secure broad, cross-market access — especially in a budget-constrained environment.”

Home-based care: The new frontier for data collection

A major theme of the discussion was the increasing value of home-based care models — not just for convenience, but as structured environments for high-quality RWE capture.

“Home care is a really important part for some medicines, especially with rare diseases, where patients may be travelling huge distances to be able to access their clinicians,” noted Noolie Gregory, Head of Evidence Generation at Sciensus. “It goes far beyond the shipment of a product; it’s really supporting patients in making the most of their medicines.”

These in-home touchpoints enable the collection of caregiver- and patient-reported outcomes that would be missed in clinic settings, while also improving adherence and real-time safety monitoring.

Early access: Ethical responsibility, strategic opportunity

Early access programs are another option to consider. While the priority of an EAP is always providing patient access, the speakers shared their experiences of collecting rigorous data for monitoring safety, developing best practice in collaboration with clinicians, and supporting future use of the product.

According to Gregory, real-world evidence is becoming “much more accepted” by HTA bodies overall, meanwhile the industry is finding increasingly sophisticated and efficient ways of gathering it. This includes the use of AI for transforming existing unstructured data from electronic health records, for example, into robust structured data.

However, while HTA bodies may accept real-world evidence, it will always be assessed as a secondary standard and must be collected with methodological rigour.

A collaborative, patient-centric evidence model

Successful RWE programs depend on the people behind it. Across the webinar, speakers returned repeatedly to the importance of involving patients, clinicians, and advocacy groups early and often.

“Never discount the power of the patient voice, not only in the pre-approval but in the post-approval setting as well,” said Dr Huml. “They can tell you how the treatment is working, how it works against competition, what could be improved, and what needs to be educated on, and that’s really important.”

Hoyle agreed, also adding that when collecting real-world evidence via a registry, for instance, input from treating clinicians and scientific advisory boards ensures that the data gathered is both relevant and effective. In turn, this involvement can support publications that may feed directly into HTA decisions.

To hear how leaders from Sciensus and Immunocore are navigating Europe’s evolving rare disease landscape — and what it means for future orphan drug launches — watch the full on-demand webinar here.