Insights from Pharma 2025: Preparing for change: Rare disease launches in the era of EU Health Technology Assessment (HTA)

The introduction of the joint clinical assessment (JCA) and joint scientific consultation (JSC) processes marks a pivotal shift in how rare disease medicines will gain access to patients across Europe. The EU HTA regulation officially came into force in January 2025, initially focusing on oncology products and advanced therapy medicinal products (ATMPs). As O’Donnell remarked, “These changes will fundamentally reshape the way medicines gain access to patients across the continent.” However, according to Sinkevich, the rare disease community is fortunate to have a few years to observe and adapt to these developments before the full implementation in 2028. This transitional period could allow companies to refine their approaches but also highlights a significant challenge: many products currently in clinical development may not easily align with the JCA's requirements. 

Key challenges ahead 

1. Comparative evidence: Generating robust comparative evidence poses a major hurdle. The inherent complexities of rare diseases, including heterogeneous populations and the difficulty of conducting randomized clinical trials, create a challenging environment for demonstrating relative effectiveness. Sinkevich remarked, "Without randomized clinical trials, what do we do?" The existing guidance acknowledges observational and single-arm trials, yet the HTA assessors may prioritize traditionally “strong” evidence, such as randomised controlled trials, potentially sidelining the unique context of rare disease therapies. 
2. Expertise and conflict of interest: Another critical concern is the limited pool of opinion leaders in rare diseases. Given the small number of experts available, conflicts of interest may arise when these individuals serve on scientific committees or advisory boards. Sinkevich pointed out, "If we are launching into a new therapeutic area, we probably have a couple of experts in the whole of Europe," which raises concerns about the adequacy of expertise available for the JCA process. 

As the landscape of EU HTA regulation continues to evolve, the next few years will be critical for the successful launch of rare disease therapies. Sinkevich encapsulated the dual mission of prioritizing patient access while ensuring that companies remain competitive. "We need to ensure that Europe stays competitive and our business can thrive because otherwise, we cannot bring innovations to our patients." 

O’Donnell emphasized the importance of collaboration and adaptation in this evolving landscape, stating, “The success of the new HTA framework will ultimately depend on our ability to work together as an industry, engage with stakeholders, and keep the needs of patients at the forefront of our efforts.” 

The insights shared at Pharma 2025 highlight the pressing need for the pharmaceutical industry to embrace flexibility and innovation in response to regulatory changes. By fostering partnerships, sharing knowledge, and remaining committed to patient-centric approaches, the sector can pave the way for greater access to cutting-edge treatments for rare diseases. The path forward will require collective effort, but the potential rewards of improved patient outcomes and enhanced therapeutic options are well worth the journey.