Why a global approach can accelerate innovation

Rare diseases are a global public health priority: approximately 400 million people are affected across the globe1 and many conditions are progressive, life-limiting and incurable.

The journey to diagnosis may take five years or more2 and there are no meaningful treatments for 90% of the 10,000 different rare diseases.^3,4

The need for rare disease innovation is urgent and clinical trials are essential to establish the safety and efficacy of novel medicines. Yet conducting clinical trials in rare diseases is complex due to the small, dispersed patient populations and limited understanding of the natural history of many rare conditions. Taking a global approach to research can help overcome these barriers and accelerate innovation for people living with rare diseases across the world.

Applying global patient insights

Between 2016 and 2020, a quarter of rare disease trials worldwide were terminated due to low accrual rates.5 At Alexion, AstraZeneca Rare Disease, we serve patients in more than 60 countries, ensuring we build a deep understanding of how the patient journey may differ across the globe and informing how we design and recruit our clinical trials. This includes seeking direct patient input on which trial endpoints are most meaningful, how to reduce the burden of taking part for the duration of the study and how to increase inclusion of underrepresented populations.

Novel trial methodologies increase global reach

Given rare disease populations are not only small, but also globally dispersed, decentralized clinical trials (DCTs) can encourage participation and increase retention of patients as data collection is achieved at least partially remotely or with fewer site visits. In addition, DCT methodologies can increase equity by including a route for inclusion in clinical trials for patients who were previously unreachable due to geographical and infrastructure issues.

Well-designed real-world evidence (RWE) studies are also increasingly being used to generate compelling safety and efficacy data in rare diseases to provide both complementary data (e.g., placebo arms when it may be unethical not to provide a promising treatment to patients), and additional data post-approval of a new medicine. Data from electronic health records and registries can be integrated, offering further potential to include patients in underserved geographic locations.  Collaboration is key, however, so that appropriate infrastructure and guidance is in place to ensure data privacy standards are maintained and data generated via wearables and/or patients’ mobile phones is adequately protected.

Global collaboration to accelerate innovation

Recognising that rare disease patients may be hard to reach, novel strategies are emerging to improve inclusion in clinical trials and accelerate innovation. Regional rare disease ecosystems are increasingly connecting doctors, scientists and industry virtually across borders to share expertise and conduct research studies, so that expertise travels rather than the patient.6,7 As a rare disease community, we must continue to listen and apply diverse patient insights, share learnings across different countries and incorporate new research methodologies so that, ultimately, novel medicines can reach more patients, more quickly.8

References
1 Global Genes. Rare Disease Facts. Available at: https://globalgenes.org/rare-disease-facts/. Last accessed: May 2024.
2 EURORDIS. Earlier, faster and more accurate diagnosis. Available at: https://www.eurordis.org/our-priorities/diagnosis/. Last accessed: May 2024.
3 Kaufmann, et al. (2018). From scientific discovery to treatments for rare diseases – the view from the National Center for Advancing Translational Sciences – Office of Rare Diseases Research. Orphanet Journal of Rare Diseases. 13:196. https://doi.org/10.1186/s13023-018-0936-x
4 Rare-X. (2022). The Power of Being Counted Report. Available at: https://rare-x.org/wp-content/uploads/2022/05/be-counted-052722-WEB.pdf.
5 Elliott, et al. (2022) Accrual-Monitoring Practices for Various Disease Trials among AACI Member Cancer Centers. Clinics and Practice. 31;12(5):692–700. https://doi.org/10.3390%2Fclinpract12050072
6 EURORDIS. European Reference Networks. Available at: https://www.eurordis.org/our-priorities/european-reference-networks/. Last accessed: May 2024.
7 Asia-Pacific Economic Cooperation (APEC). Action Plan on Rare Diseases. Available at: https://www.apec.org/docs/default-source/satellite/Rare-Diseases/APEC_ActionPlan.pdf.
8 McKinsey. (2024). Accelerating clinical trials to improve biopharma R&D productivity. Available at: https://mckinsey.com/industries/life-sciences/our-insights/accelerating-clinical-trials-to-improve-biopharma-r-and-d-productivity. Last accessed: May 2024.

Patryk Mikucki is VP & Global Head of Country Operations at Alexion, AstraZeneca Rare Disease, a global biopharmaceutical company focused on developing life-changing therapies for people living with rare diseases. Patryk leads oversight of Alexion’s clinical studies across the company’s portfolio of rare disease medicines.