What is the Future of Rare Disease Research and Development in the EU?

Rare diseases are a major public health issue in the European Union (EU), affecting an estimated 30 million people, or between 6% and 8% of the population. (1)

However, indication specific rare disease research and development (R&D) has historically presented unique challenges due to limited patient numbers, broad geographic spread of patients afflicted, and logistical and administrative hurdles. Each these issues has driven cost and complexity in R&D efforts across the EU.

With respect to these past challenges in rare disease R&D, yesterday’s problems are tomorrow’s solutions. The EU has experienced strong growth in rare disease clinical trials conducted per year, increasing the number by 104% from 2006-2016, outpacing gains in North America and Australia (+88%) in the same time period.2
There are several factors that are increasing the value of this area of research in the EU, namely:

  • Advances in scientific research that have led to an increased understanding of the underlying mechanisms of rare diseases, such as genomics and proteomics, and policy which has made specific genetic biomarkers clinically actionable (e.g. ESMO Clinical Actionability Scale).
  • Growing interest in the development of treatments for rare diseases by pharmaceutical companies and investors due to the potential for substantial return for investment.
  • Various financial incentives and regulatory support measures in the EU to encourage the development of treatments for rare diseases including Orphan Drug Designation3, tax credits4, and fast track approval processes.3

With this progress also comes immediate challenges, chiefly among them equal access to rare disease treatments and healthcare systems raising concerns about funding and managing the introduction of new treatments, especially cell and gene therapies.

Cell and Gene therapies have the potential to substitute a lifetime of care with a single treatment, but they often necessitate substantial upfront costs for the healthcare system. This poses an immense challenge for healthcare systems already strained by heightened service demands. Simultaneously, an equality issues persists in rare disease, where there are marked differences in access to treatment between patients with rare disease and the general population2. Twice as many patients seeking treatment for rare diseases have reported either:

  1. They are not receiving treatment due to lack of availability in their country,
  2. Not receiving treatment due to their inability to pay for it,
  3. Not receiving treatment due to long waiting lists.

This is the critical juncture where industry, healthcare systems, and governments must collaborate to discover innovative approaches for conducting trials at scale and financing these treatments. With joint regulatory and health technology assessment also emerging across the EU block, collaboration will be critical if we are to prioritize patient access while ensuring the long-term sustainability of healthcare systems.

At PHAROS, we have extensive experience in helping companies to develop and commercialize new treatments for rare diseases including identifying and assessing rare disease opportunities, developing and implementing clinical trial strategy, navigating the regulatory landscape and bringing new treatments to market. We provide the advantage of a comprehensive turn-key solution, which provides our clients with a single gateway to unlock opportunities in the EU.

  1. https://research-and-innovation.ec.europa.eu/research-area/health/rare-diseases_en#:~:text=Between%206%2C000%20and%208%2C000%20different,an%20indispensable%20condition%20to%20progress.
  2. http://www.pugatch-consilium.com/reports/Benchmarking_success.pdf
  3. https://www.ema.europa.eu/en/human-regulatory/overview/orphan-designation-overview
  4. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8717920/