Rare Revolution: How China is Redefining the Future of Orphan Drug Development

China is rapidly reshaping the landscape of rare disease drug development, fueled by regulatory reforms, robust expansion of clinical infrastructure, and surge in biotech innovation. Over past decade, China has introduced policies to promote research and development on rare disease drugs. The number of rare disease drugs in the pipeline in China has increased significantly in last five years, with an average annual growth rate of 34%, compared with 24% for the global rare disease drug pipeline. Furthermore, since 2020, China has surpassed the United States in the leadership of rare disease studies, benefited by affordability and expedited regulatory procedures for rare disease medication approvals.

From 2012 to 2023, the number of rare diseases agents in preclinical and clinical development increased in China. Below graph represents clinical trial scenario for rare disease drugs for last decade.

Source: Springer Nature Limited

• At the end of 2023, there were total 1,200 number of drugs being developed for rare diseases in China, reflecting the country's aggressive push to build one of the world's largest orphan drug pipelines.
• In 2023 clinical trial on rare disease drugs in China increases by 42.9% compared to 2022. Such rapid growth underscores rising investment and regulatory confidence in the rare disease space.
• Further in 2022, 49% of all clinical trials on rare disease drugs are under preclinical stage, with 7% in Phase III, 18% in Phase II, 25% Phase II and 2% in pre-registration phase of clinical trial stage. This preclinical dominance signals a robust innovation pipeline with long-term market potential.
• Additionally, China has specific focus on oncology, accounting for 71%, compared to only 43% globally of all rare disease drug pipeline, highlighting China's strategic alignment with high burden rare cancers and emerging precision therapies.

China's Bold Moves: Catalyzing the Future of Rare Disease Innovation

Regulatory reforms

• China has made significant policy moves to stimulate rare disease drug development. The National Medical Products Administration (NMPA) has streamlined the approval process through expedited pathways, such as priority review and conditional approvals.
• In 2018, China released its first national list of rare diseases (121 diseases), which provided a framework for regulatory and reimbursement focus. This list helped clarify disease recognition, incentivizing R&D and international collaboration.

Biotech Innovation and Partnerships

• A wave of innovative biotech startups such as Canbridge Pharmaceuticals Inc., Hua Medicine (Shanghai) Co., Ltd., and Genetron Holdings Limited., have prioritized rare disease pipelines, often focusing on gene therapies, precision medicine, and CNS disorders.
• Many companies have partnered with global players to access orphan drugs or co-develop new therapies. For instance, CANbridge Pharmaceuticals Inc. entered into a strategic collaboration with LogicBio Therapeutics, securing a worldwide license to develop gene therapy programs for Fabry disease and Pompe disease using LogicBio’s novel AAV sL65 capsid.

On March 7, 2025, Advent Life Sciences becomes the first European nation to enter China, changing the way patients can receive treatment for Wilson's diseases and marking a major advancement in the rare disease care sector. A strategic alliance with SPH Kyuan Trade, a top pharmaceutical distributor in China, has enabled this launch.

Dr. Naseem Amin, CEO of Advent Life Sciences, stated that: “This is a breakthrough for Chinese patients with rare diseases, more than just a market growth. Our partnership with SPH Kyuan Trade marks a significant turning point in Orphalan's development. We are transforming access to care for people who need it most, not just introducing a therapy to the market. This launch serves as a reminder of our dedication to provide transformative treatments all across the world”.

The Future is Rare: China Commanding the Next Wave of Rare Disease Therapies

As China accelerates innovation and regulatory efficiency, it is likely to become a central hub for rare disease research and development, attract greater foreign investment, and influence global clinical trial strategies. This shift will redefine global market dynamics and access models for orphan drugs.