Abstract
BACKGROUND: The epidemiological burden of rare diseases positions them as a global public health challenge. Because rare disease policies are heterogeneous and complex, evaluating their effectiveness requires a systematic and structured approach. Policy evaluation frameworks provide tools to understand how policies are defined, implemented, and assessed in different health systems. These frameworks help identify gaps in policy design and support the development of mechanisms to improve rare disease management. Although several policy evaluation methods have been proposed, no study has synthesized them in a structured and comparative manner. This study aims to map existing policy evaluation frameworks for rare diseases, describe their overarching structures, and propose recommendations for improvement. RESULTS: This scoping review followed the Context, Population and Concept (CPC) structure to guide the search strategy. Databases and grey literature were searched from inception to 1 May 2025. Ultimately, five studies were included for extraction and evaluation. The context, population and concept of the included studies were categorized into three thematic domains: policy focus, policy problem, and stakeholder groups and collaboration. CONCLUSIONS: The limited number of available frameworks underscores the need for further methodological development. While current approaches provide initial insights, they remain context-specific and lack a unified, transferable framework applicable to different health systems.