Why China is becoming a global engine for rare disease clinical research
The landscape of rare disease drug development is changing rapidly. As sponsors seek new ways to accelerate clinical development, improve patient recruitment and support global regulatory strategies, China has emerged as a market that deserves serious consideration.
Historically, many multinational companies have viewed China as a commercial opportunity only after regulatory approvals had been secured in the United States or Europe. Today, that mindset is evolving. China has become one of the world's most active clinical research environments, contributing to approximately 30% of open trials globally and playing an increasingly important role in early-phase development.1 China also accounts for a significant proportion of global Phase I activity and continues to strengthen its position across innovative therapeutic categories.
For rare disease sponsors, this evolution creates a compelling opportunity.
China’s rise as a clinical research hub
Several factors have contributed to China's emergence as a leading destination for clinical research. The country has invested heavily in research infrastructure, regulatory modernization and scientific innovation. Additionally, a growing biotechnology sector is advancing novel therapeutics while pursuing licensing agreements and development programs for global markets.
China has also become increasingly active in advanced therapeutic modalities, including siRNA therapies, antibody-drug conjugates and bispecific medicines. The expansion of these technologies is particularly relevant for rare disease development where precision approaches are increasingly shaping treatment strategies.
At the same time, a large and aging population continues to drive demand for innovative therapies. The combination of clinical infrastructure, scientific capability and patient access has positioned China as a major contributor to global drug development.
The scale of rare disease in China
Rare diseases are often described as individually uncommon but collectively common. Nowhere is this more apparent than in China.
More than 20 million people in China are estimated to be living with a rare disease.2 This represents one of the largest, rare disease populations in the world and creates substantial opportunities for research and clinical development.
The need for innovation remains significant. While progress has been made in improving access to therapies, gaps remain between China and more established rare disease markets. Many conditions still lack approved treatments domestically despite therapies being available elsewhere in the world. As a result, there is strong interest from patients and healthcare providers in new clinical research opportunities.
For sponsors developing treatments for rare diseases, access to larger patient populations can play an important role in supporting recruitment goals and development timelines.
Why rare disease development is entering a new era
Rare disease drug development has traditionally faced a common set of challenges. Researchers often struggle to identify eligible patients, recruitment timelines can be lengthy and highly specialized treatment centers may be geographically dispersed. China's evolving clinical ecosystem is helping address some of these challenges.
A growing network of specialized hospitals, improvements in diagnosis and greater awareness among clinicians are increasing the visibility of rare disease populations. Combined with regulatory reforms and expanded research capabilities, these factors are making China a more attractive location for early and late-phase studies.
Importantly, rare disease development is no longer viewed as a niche area of research. Advances in genetic medicine, precision therapies and targeted biologics have transformed the field into one of the most innovative areas of drug development.
Why sponsors are bringing China into development plans earlier
One of the most notable trends in recent years has been the movement toward earlier inclusion of China in global development programs. Sponsors increasingly recognize that waiting until late-stage development can create additional complexity and potentially delay access to the market. By involving China earlier, companies can align development activities across regions, gather data from broader patient populations and establish relationships with investigators and regulators throughout the development journey. This approach is becoming particularly important in rare diseases where every patient enrolled can have a meaningful impact on study timelines.
The future of rare disease development in China
The role of China in rare disease development continues to grow. A large patient population, expanding infrastructure, ongoing innovation and a strong commitment to advancing healthcare have created an environment that is increasingly attractive for global rare disease clinical research.
For sponsors evaluating future development strategies, China should no longer be viewed simply as a future commercial market. It is becoming an important contributor to global development plans from the earliest stages of clinical research.
As the rare disease ecosystem continues to mature, the question for many organizations is no longer whether China should be considered. The question is how early it should be included.
Learn more about how Fortrea can support your rare disease study.