Real-world evidence for coverage determination of treatments for rare diseases

Area of Science:

• Health Technology Assessment (HTA)
• Real-World Evidence (RWE)
• Rare Disease Therapeutics

Background:

• Health technology assessment (HTA) for pharmaceuticals is complex and evolving, particularly for rare disease treatments approved via accelerated pathways.
• Accelerated approval schemes for rare disease drugs create uncertainties regarding clinical evidence and budget impact upon market entry.
• Real-world evidence (RWE) is proposed to support HTA decisions for rare disease treatments, including through early coverage with evidence development.

Purpose of the Study:

• To describe the methodological challenges in developing and utilizing prospective and retrospective RWE for HTA decisions concerning rare disease treatments.
• To focus on critical elements of study design and analysis for RWE generation in rare diseases.

Main Methods:

• Examination of methodological challenges in prospective and retrospective RWE development for HTA.
• Focus on key study design and analysis components: patient selection, confounding adjustment, bias control, outcome selection, and data quality monitoring.
• Exploration of challenges specific to RWE in the context of rare diseases.

Main Results:

• Significant methodological challenges exist in collecting and using RWE for HTA, especially for rare diseases.
• Key challenges identified include patient recruitment, confounding and bias adjustment, outcome selection, and data quality assurance.
• The paper outlines specific issues related to study design and analytical approaches for RWE in rare disease contexts.

Conclusions:

• Addressing the methodological challenges of RWE is essential for robust HTA decisions in rare diseases.
• The role of RWE in coverage and pricing determination is expected to increase.
• Researchers, manufacturers, HTA agencies, and payers must adhere to rigorous scientific principles when employing RWE in decision-making.