By Eric Bouteiller

There are more than 7,000 confirmed rare diseases in the world, accounting for about 10% of human diseases, more than 1,400 of which have been diagnosed in China. Rare diseases are not rare in China, however, as it is estimated that the total number of patients suffering from such ailments exceeds 20 million.

Before 2018, China had no specific policies in place to identify and treat rare diseases, but in recent years new policies have improved this situation significantly. That said, progress in this area can be accelerated via a combination of measures including increased investment and using rare diseases to spur medical research innovation.

There are several areas key to continuing progress in China, including clarifying the Chinese definition of rare diseases; accelerating the development, registration and accessibility of relevant drugs; and making rare diseases a high-profile priority to attract financial support from not only the state but also from corporate sources, philanthropists as well as charities and foundations. Furthermore, by making the improvement of rare disease treatment a national goal this can attract more researchers to focus on this area, making it an engine for medical breakthroughs which can benefit medicine as a whole.

A major complaint among patients in China is that many doctors are not fully aware of the rare diseases and spend years, sometime decades, to get an accurate diagnosis, often wasting resources on incorrect treatment, resulting in patient suffering. One study suggests that accelerating the diagnosis of rare diseases is of primary importance – systematic epidemiological research is of limited use to its high cost and limited success. Moreover, the “reverse” seems to be more effective – when therapeutic solutions emerge, patients with the same diagnosis and treatment may seek similar solutions themselves – patients are the best advocates. Therefore, what is most needed is the development of clinical specialised centres, coupled with research facilities and clinical coverage.

Accelerated approval is critical for the development of drugs against rare diseases. China’s National Medical Products Administration (NMPA) has started the fight by issuing its first list of rare diseases, but this is far from having a significant impact. Of the 121 diseases listed, drug trials for only 14 of these are underway in China, mainly focusing on haemophilia, homozygous familial hypercholesterolemia, idiopathic pulmonary fibrosis and multiple sclerosis.

Unfortunately, limited market potential prevents scientists and pharma companies from investing in this area. Some policy support such as subsidies could be beneficial. The best policy support for rare disease drugs in China is to allow approval without clinical trials in cases where the compound and application are already well-established. However, lowering of clinical standards for economic reasons must be avoided. Clinical trials on rare diseases already face significant medical challenges, such as a limited number of patients and non-ethical placebos, and patient associations such as EURORDIS demand quality and conclusive clinical trials. Also, from insurance point of view, reimbursement can only happen when proof of efficacy and tolerance are well established.

Increasing R&D financing

One way to improve investment in R&D is not linked to rare diseases, but to the behaviour of the market. Lack of focused policies have created “herd-innovation” where companies copy each other and bring only incremental improvement to markets. Innovation is not well protected and thus in the end all actors are copying each other, restricting optimal progress. In July 2021, the NMPA changed its processes to better recognize more substantial innovation, but this was only done in the field of cancer drugs. These changes were successful and should be applied to other areas. This way, economic actors will stop wasting resources on the same goals as their competitors and can focus on new therapeutic areas, such as rare diseases.

R&D cost reductions in drugs could be achieved by focusing on new uses for existing drugs. Many rare diseases could be cured with existing chemical compounds. The NMPA and China National Intellectual Property Administration (CNIPA) could unleash innovation by recognizing patents for new uses for existing drugs – something which is inherently less costly than researching new chemical compounds.

State support

Increased state investment is needed to improve access to drugs against rare diseases. But the nature of rare diseases can help control costs. The investment per rare disease patient may be higher than the average patient, but the net cost of rare diseases must factor in the lack of social or economic activity from sufferers. Additionally, reimbursement for common diseases is sometimes difficult as there is more room for prescriptions to be made improperly. In the case of rare diseases, prescriptions must match very specific conditions, limiting over prescriptions. Thus, the situation is manageable due to the limited number of patients who need these specific drugs and individual financial risk is limited. The collective cost of rare disease drugs is significant, but it is a matter of priority – currently China is not investing enough in healthcare and part of the incremental increases could be allocated to rare disease.

Spending in health care in China accounted for just over 7% of its GDP in 2019, and the figure increased slightly to 7.2% in 2020 due to the COVID-19 epidemic. In most developed markets, the range is 10 to 12% of the GDP while the world average is 9.8%. China is not playing in this league. For a middle-income country, China is spending relatively too much on highways and buildings and not enough in services, especially healthcare.

The number of rare disease patients is limited and, due to sometimes prohibitive costs, they may be open to innovative approaches in funding. Provincial government support, partnerships with insurance companies, and payment by instalments are just several ways which can improve the efficiency of medical insurance for patients with rare diseases.

Elite philanthropy and charity contributions

Chinese society has profoundly changed in last decade. People care more about society at large, and elite business people have generated sizeable financial resources. National disasters in China trigger massive donations and charity, and such giving could become a supplemental force to help patients with rare diseases while the state takes care of the masses.

A survey of 38,634 Chinese medical workers conducted by the Chinese Organization for Rare Disorders (CORD) showed that 1,770 had never heard of rare diseases, accounting for 4.6%. 23,514 were familiar with, but did not deeply understand rare diseases, accounting for 60.9%. At the same time, 87.6% of medical workers said they did not understand the national policy on rare diseases. This demonstrates that the treatment of patients with rare diseases has a long way to go.

Charity support for rare diseases has precedent. In 2016, the global “ice bucket challenge” publicized the concept of caring for patients with rare diseases, as people from all walks of life participated and helped raise significant funding for treatments. At that time, the China Doll Centre for Rare Disorders received millions of donations. In a similar way, Genethon is a remarkable success story of a charity coupled to a patient association that has now become a key player in emerging R&D for rare diseases.

To better solve the health problems of patients with rare diseases, we should raise public awareness about rare diseases. It would enable the general population to better understand the situation and be sympathetic to such sufferers. It would encourage charity organizations to donate and support patient associations and organisations fighting rare diseases. Ultimately, increasing awareness among the public and medical workers of rare diseases would help unleash the financial power of elites and give full play to the power of charity.

This article is based on a forthcoming working paper entitled, "Rare Diseases are not Rare in China". Click here to download a copy of the complete paper. Eric Bouteiller is an Adjunct Professor of Management at CEIBS. For more on his teaching and research interests, please visit his faculty profile here.