Abstract
Rare diseases represent a significant public health challenge in China, affecting an estimated 20 million individuals. Despite incremental policy improvements over the past decade, including the publication of two National Rare Disease Lists, an increasing number of available treatments, and the inclusion of some therapies in the Nationally Reimbursed Drug List (NRDL), patients continue to face systemic challenges in diagnosis, treatment access, and sustainable protection. That said, China has very limited rare disease research & development (R&D) and industrial development, so the market potential is far from being tapped. This policy review argues that the lack of a national legal definition for rare diseases and orphan drugs, an unsustainable payment mechanism for high-value innovative therapies, and insufficient incentives for domestic research and development have collectively hindered the creation of a sustainable rare disease ecosystem. Drawing on an analysis of patient registry data, policy documents, and proposals from China's National People's Congress (NPC) sessions, we demonstrate a growing societal consensus on the need for comprehensive national legislation on rare diseases, which is not only a moral imperative to safeguard the rights of patients but also a strategic necessity for a national population strategy and biomedical industrial development. We consider systemic rare disease legislation in China to be imperative, and now is the optimal time to promote rare disease legislation in China. We propose nine key initiatives, including establishment of a working committee on national legislation, creating a standardized definition of rare diseases and orphan drugs, creating a dedicated national rare disease fund, and robust R&D incentives.