For rare disease patients in Mainland China, hope of greater access to treatment

Recent policy and regulatory moves have begun to sketch out a framework for rare disease drug approvals in the country, but obstacles to approvals and patient access remain.

Mainland China has taken significant steps toward improving access to treatment for its estimated 20 million rare disease patients in recent years.[1] However, these conditions remain widely underdiagnosed and treated. This post examines the recent regulatory history around rare disease treatments in this key market, with an eye toward how the market may evolve.


Establishing a definition of rare disease

In May 2010, the Chinese Medical Association (CMA) reached an expert consensus that defined rare diseases as those with a prevalence of less than 1 in 500,000, or with a morbidity rate of less than 1 in 10,000, among newborns.[2] This sets the prevalence threshold of rare diseases in Mainland China significantly lower than that in the United States (affecting less than 200,000 people), the European Union (less than 1/2,000), or Japan (less than 1/2,500).[3][4][5] Nevertheless, low diagnosis rates of rare diseases in Mainland China —owing to a lack of awareness—renders any prevalence-based definitions largely irrelevant.


Identifying rare diseases and prioritizing reviews

The lack of a clear definition for rare diseases contributed to limited policymaking efforts towards the development of and access to drugs for rare diseases in Mainland China.[6][7] However, in May 2018, the National Health Commission of China (NHC), together with four other national agencies, formulated China’s First List of Rare Diseases (CRDL) to provide a foundation for policymaking around rare disease treatments. The list, designed to serve as a reference point for prioritized drug review and evaluation policies, included 121 rare diseases.[8]

Following the release of the CRDL, the agency has introduced two major policies with a clear focus on the development of therapies for rare diseases in Mainland China.


Fig. 1: Recent milestones in Mainland China’s regulation of rare disease treatments

Source: Clarivate™ analysis


Stakeholders partner to accelerate approvals

Another big boost to rare disease treatment came with the October 2018 founding of the China Alliance for Rare Disease (CHARD), comprising more than 50 universities, scientific research institutes and companies. The consortium aims to promote awareness for rare diseases within the healthcare community and general public, address the impending issue of drug availability and improve the quality of life of rare disease patients. Industry experts believe that the increased focus on drug development and market access for rare diseases will set the rare disease therapy market within Mainland China on a growth trajectory similar to that seen with oncology therapeutics in recent years.

“Industry experts believe that the increased focus on drug development and market access for rare diseases will set the rare disease therapy market within Mainland China on a growth trajectory similar to that seen with oncology therapeutics in recent years.”[9]

Since the introduction of CRDL and the establishment of CHARD, we have seen several success stories of rare disease drug development in Mainland China. Approval pathways have been established that allow manufacturers to bring innovative therapies to market without conducting trials in Mainland China, provided the safety and efficacy of the drugs have been demonstrated through real world data (RWD) in other markets. For example:

  • In the management of multiple sclerosis (MS)—a rare disease in Mainland China that is also part of the CRDL—several therapies have won approval based on real world data from Western markets, including fingolimod (approved in July 2019), teriflunomide (approved in July 2018), and dimethyl fumarate (approved in April 2021).[10][11][12]
  • Milan-based Dompé Farmaceutici’s OuShiWei (cenegermin) was launched in August 2020 for the treatment of neurotrophic keratitis (NK), a rare progressive eye disease that causes corneal scarring and decreased vision, without data from local clinical trials.[13]
  • Preferential drug review and evaluation policies have not only improved the patient access for rare disease therapies but also hastened the pace of innovative drug development in Mainland China.

In addition, the Chinese government has taken effective measures aimed at improving the affordability and access of these therapies by including them in the National Reimbursement Drug List (NRDL), including three recently approved therapies for MS in Mainland China — teriflunomide, fingolimod and siponimod. The most recent NRDL update (2021) also saw the inclusion of nusinersen (Biogen’s Spinraza), approved for the treatment of spinal muscular atrophy (SMA), a rare hereditary neuromuscular disease, following a price cut of more than 90%.[14] Regional governments are also reportedly being encouraged to supplement the reimbursement of rare disease drugs through the establishment of local medical insurance plans.[15]


Figure 2: Rare disease approvals are on the rise in Mainland China

Source: Mainland China’s Center for Drug Evaluation


Multinational pharmas seek entry for their products

Multinational pharmas have taken notice of the recent policy focus of Mainland China’s healthcare authorities on rare diseases. In 2021, NMPA approved 15 new rare disease therapies, 13 of which were developed by multinational manufacturers, bringing the total approval number for rare disease therapies since 2016 to 34. Notably, Roche brought two rare disease therapies—risdiplam (Evrysdi) for treatment of SMA and satralizumab (Enspryng) for treatment of euromyelitis optica spectrum disorder—to the Mainland China market within 12 months of their respective approvals in the United States.[16]

In addition, in September 2021, AstraZeneca announced the establishment of a rare disease business department in Mainland China. Japan’s Takeda has commercialized four rare disease therapies in Mainland China in the past two years. The company has ramped up its patient access efforts through a partnership with the Chinese Red Cross Foundation, established in June 2021 and aimed at providing physician education and patient awareness programs for rare diseases.

Takeda has also set up a rare disease special assistance fund, as the company looks towards Mainland China for the growth of its rare disease portfolio following the acquisition of Shire.


Key takeaways on the future of Mainland China’s rare disease treatment market:

  • Mainland China is making significant progress on improving the diagnosis and treatment of rare diseases as well as patient access to rare disease therapies with various preferential rare disease policies on drug approvals and social medical reimbursement coverage (both national and regional).
  • With a large potential pool of rare disease patients in Mainland China currently underdiagnosed and undertreated, multinational pharmas have an opportunity to tap into the market for future growth.

China’s rapidly evolving and increasingly dynamic rare disease market provides pharmas an opportunity for strong growth. To succeed in this market, pharmas need to adopt a comprehensive approach with the right combination of R&D and A&R strategies that truly focus on the unmet needs of Chinese rare disease patients.

Insights provided in this article were developed by Clarivate analysts using data and analysis from China In-Depth, which covers patient populations, access and reimbursement environment, treatment paradigms, pipelines and drug-level forecasts.


Gain access to intelligence on Mainland China’s healthcare market and disease-specific trends. China In-Depth clients can access the author’s full report on MS therapy market in Mainland China here.



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[2] Ma R, Li DG, Zhang X, He L. Opportunities for and challenges regarding prevention and treatment of rare diseases in China. Chinese Journal of Evidence-based Pediatrics. 2011; 6:81-82.

[3] Rare Diseases at FDA [online]

[4] EU research on rare diseases [online]

[5] Hayashi S, Umeda T. 35 years of Japanese policy on rare diseases. The Lancet. 2008;372(9642):889-890. doi:10.1016/s0140-6736(08)61393-8

[6] Shao WB, Li YY, Wang F, Zhu YJ, Xiao L, Huang RF. Accessibility of rare drugs in China and Solutions. China Food & Drug Administration Magazine. 2019; 2:8-15. (in Chinese)

[7] Ge L, Wei CJ, Shi LW, Ding J. Study on current medication situation of rare disease in China. Beijing Medical Journal. 2018; 40:432-434. (in Chinese)

[8] Announcement on the First Batch of Overseas New Drugs Urgently Needed in Clinical Settings, NMPA [online]

[9] Clinical Technical Requirements for Overseas Drugs not yet Imported to China, NMPA [online]

[10] Novartis’s multiple sclerosis blockbuster Gilenya approved for China launch (2019). GBI Source, [online]

[11] Sanofi’s rare disease therapy Aubagio approved for marketing in China (2018). GBI Source, [online]

[12] Biogen’s Tecfidera approved for MS in China (2021). GBI Source, [online]

[13] Dompé launches rare eye disease drug in China for neurotrophic keratitis (2021). GBI Source, [online]

[14] China’s NRDL updated with 64 brand new listings after talks produce average 62% price cut. GBI source [online]

[15] He J, Song P, Kang Q, Zhang X, Hu J, Yang Y, Tang M, Chen D, Hu S, Jin C. Overview on social security system of rare diseases in China. Biosci Trends. 2019;13(4):314-323. doi: 10.5582/bst.2019.01209.

[16] 2021 Year in Review: New benchmark set with 81 novel drug approvals. GBI source [online]